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Author: Elizabeth G Holliday (97)


Dec
2017

Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images].

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Jan
2017

Background Transient ischemic attack incurs a risk of recurrent stroke that can be dramatically reduced by urgent guideline-recommended management at the point of first medical contact. Aims This study describes the prevalence and associations of new transient ischemic attack presentations to general practice registrars and the management undertaken. Methods A cross-sectional analysis of the Registrar Clinical Encounters in Training cohort study.

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Nov
2017

Objective Limited international evidence suggests general practice registrars' emergency department (ED) referral rates exceed those of established general practitioners (GPs). The aim of the present study was to fill an evidence gap by establishing the prevalence, nature and associations of Australian GP registrar ED referrals.Methods A cross-sectional analysis was performed of the Registrar Clinical Encounters in Training (ReCEnT) cohort study of GP registrars' consultation experiences, between 2010 and 2015.

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Sep
2017

Limited longitudinal research has examined relationships between depression and injury, particularly in rural contexts. This paper reports cross-sectional and longitudinal analyses from the Australian Rural Mental Health Study (ARMHS) exploring relationships between "probable depression" episodes and unintentional injury. Participants completed four surveys over five years.

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Oct
2017

Primary care physicians are well placed to offer physical activity counseling, but insufficient time is a barrier. Referral to an exercise specialist is an alternative. In Australia, exercise specialists are publicly funded to provide face-to-face counseling to patients who have an existing chronic illness.

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Aug
2017

Objectives Expanding learner cohorts of medical students and general practitioner (GP) vocational trainees and the impending retirement of the 'baby boomer' GP cohort threaten the teaching and supervisory capacity of the Australian GP workforce. Engaging newly qualified GPs is essential to sustaining this workforce training capacity. The aim of the present study was to establish the prevalence and associations of in-practice clinical teaching and supervision in early career GPs.

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Jul
2017

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension 2017 Jul 24. Epub 2017 Jul 24.
Louise V Wain, Ahmad Vaez, Rick Jansen, Roby Joehanes, Peter J van der Most, A Mesut Erzurumluoglu, Paul F O'Reilly, Claudia P Cabrera, Helen R Warren, Lynda M Rose, Germaine C Verwoert, Jouke-Jan Hottenga, Rona J Strawbridge, Tonu Esko, Dan E Arking, Shih-Jen Hwang, Xiuqing Guo, Zoltan Kutalik, Stella Trompet, Nick Shrine, Alexander Teumer, Janina S Ried, Joshua C Bis, Albert V Smith, Najaf Amin, Ilja M Nolte, Leo-Pekka Lyytikäinen, Anubha Mahajan, Nicholas J Wareham, Edith Hofer, Peter K Joshi, Kati Kristiansson, Michela Traglia, Aki S Havulinna, Anuj Goel, Mike A Nalls, Siim Sõber, Dragana Vuckovic, Jian'an Luan, Fabiola Del Greco M, Kristin L Ayers, Jaume Marrugat, Daniela Ruggiero, Lorna M Lopez, Teemu Niiranen, Stefan Enroth, Anne U Jackson, Christopher P Nelson, Jennifer E Huffman, Weihua Zhang, Jonathan Marten, Ilaria Gandin, Sarah E Harris, Tatijana Zemunik, Yingchang Lu, Evangelos Evangelou, Nabi Shah, Martin H de Borst, Massimo Mangino, Bram P Prins, Archie Campbell, Ruifang Li-Gao, Ganesh Chauhan, Christopher Oldmeadow, Gonçalo Abecasis, Maryam Abedi, Caterina M Barbieri, Michael R Barnes, Chiara Batini, John Beilby, Tineka Blake, Michael Boehnke, Erwin P Bottinger, Peter S Braund, Morris Brown, Marco Brumat, Harry Campbell, John C Chambers, Massimiliano Cocca, Francis Collins, John Connell, Heather J Cordell, Jeffrey J Damman, Gail Davies, Eco J de Geus, Renée de Mutsert, Joris Deelen, Yusuf Demirkale, Alex S F Doney, Marcus Dörr, Martin Farrall, Teresa Ferreira, Mattias Frånberg, He Gao, Vilmantas Giedraitis, Christian Gieger, Franco Giulianini, Alan J Gow, Anders Hamsten, Tamara B Harris, Albert Hofman, Elizabeth G Holliday, Jennie Hui, Marjo-Riitta Jarvelin, Åsa Johansson, Andrew D Johnson, Pekka Jousilahti, Antti Jula, Mika Kähönen, Sekar Kathiresan, Kay-Tee Khaw, Ivana Kolcic, Seppo Koskinen, Claudia Langenberg, Marty Larson, Lenore J Launer, Benjamin Lehne, David C M Liewald, Li Lin, Lars Lind, François Mach, Chrysovalanto Mamasoula, Cristina Menni, Borbala Mifsud, Yuri Milaneschi, Anna Morgan, Andrew D Morris, Alanna C Morrison, Peter J Munson, Priyanka Nandakumar, Quang Tri Nguyen, Teresa Nutile, Albertine J Oldehinkel, Ben A Oostra, Elin Org, Sandosh Padmanabhan, Aarno Palotie, Guillaume Paré, Alison Pattie, Brenda W J H Penninx, Neil Poulter, Peter P Pramstaller, Olli T Raitakari, Meixia Ren, Kenneth Rice, Paul M Ridker, Harriëtte Riese, Samuli Ripatti, Antonietta Robino, Jerome I Rotter, Igor Rudan, Yasaman Saba, Aude Saint Pierre, Cinzia F Sala, Antti-Pekka Sarin, Reinhold Schmidt, Rodney Scott, Marc A Seelen, Denis C Shields, David Siscovick, Rossella Sorice, Alice Stanton, David J Stott, Johan Sundström, Morris Swertz, Kent D Taylor, Simon Thom, Ioanna Tzoulaki, Christophe Tzourio, André G Uitterlinden, Uwe Völker, Peter Vollenweider, Sarah Wild, Gonneke Willemsen, Alan F Wright, Jie Yao, Sébastien Thériault, David Conen, John Attia, Peter Sever, Stéphanie Debette, Dennis O Mook-Kanamori, Eleftheria Zeggini, Tim D Spector, Pim van der Harst, Colin N A Palmer, Anne-Claire Vergnaud, Ruth J F Loos, Ozren Polasek, John M Starr, Giorgia Girotto, Caroline Hayward, Jaspal S Kooner, Cecila M Lindgren, Veronique Vitart, Nilesh J Samani, Jaakko Tuomilehto, Ulf Gyllensten, Paul Knekt, Ian J Deary, Marina Ciullo, Roberto Elosua, Bernard D Keavney, Andrew A Hicks, Robert A Scott, Paolo Gasparini, Maris Laan, YongMei Liu, Hugh Watkins, Catharina A Hartman, Veikko Salomaa, Daniela Toniolo, Markus Perola, James F Wilson, Helena Schmidt, Jing Hua Zhao, Terho Lehtimäki, Cornelia M van Duijn, Vilmundur Gudnason, Bruce M Psaty, Annette Peters, Rainer Rettig, Alan James, J Wouter Jukema, David P Strachan, Walter Palmas, Andres Metspalu, Erik Ingelsson, Dorret I Boomsma, Oscar H Franco, Murielle Bochud, Christopher Newton-Cheh, Patricia B Munroe, Paul Elliott, Daniel I Chasman, Aravinda Chakravarti, Joanne Knight, Andrew P Morris, Daniel Levy, Martin D Tobin, Harold Snieder, Mark J Caulfield, Georg B Ehret
Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals.

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Jul
2017

To assess the number of pathology tests ordered by general practice registrars during their first 18-24 months of clinical general practice.
Longitudinal analysis of ten rounds of data collection (2010-2014) for the Registrar Clinical Encounters in Training (ReCEnT) study, an ongoing, multicentre, cohort study of general practice registrars in Australia. The principal analysis employed negative binomial regression in a generalised estimating equations framework (to account for repeated measures on registrars).

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Dec
1969

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Sci Rep 2017 05 26;7:46835. Epub 2017 May 26.
Mathias Gorski, Peter J van der Most, Alexander Teumer, Audrey Y Chu, Man Li, Vladan Mijatovic, Ilja M Nolte, Massimiliano Cocca, Daniel Taliun, Felicia Gomez, Yong Li, Bamidele Tayo, Adrienne Tin, Mary F Feitosa, Thor Aspelund, John Attia, Reiner Biffar, Murielle Bochud, Eric Boerwinkle, Ingrid Borecki, Erwin P Bottinger, Ming-Huei Chen, Vincent Chouraki, Marina Ciullo, Josef Coresh, Marilyn C Cornelis, Gary C Curhan, Adamo Pio d' Adamo, Abbas Dehghan, Laura Dengler, Jingzhong Ding, Gudny Eiriksdottir, Karlhans Endlich, Stefan Enroth, Tõnu Esko, Oscar H Franco, Paolo Gasparini, Christian Gieger, Giorgia Girotto, Omri Gottesman, Vilmundur Gudnason, Ulf Gyllensten, Stephen J Hancock, Tamara B Harris, Catherine Helmer, Simon Höllerer, Edith Hofer, Albert Hofman, Elizabeth G Holliday, Georg Homuth, Frank B Hu, Cornelia Huth, Nina Hutri-Kähönen, Shih-Jen Hwang, Medea Imboden, Åsa Johansson, Mika Kähönen, Wolfgang König, Holly Kramer, Bernhard K Krämer, Ashish Kumar, Zoltan Kutalik, Jean-Charles Lambert, Lenore J Launer, Terho Lehtimäki, Martin H de Borst, Gerjan Navis, Morris Swertz, Yongmei Liu, Kurt Lohman, Ruth J F Loos, Yingchang Lu, Leo-Pekka Lyytikäinen, Mark A McEvoy, Christa Meisinger, Thomas Meitinger, Andres Metspalu, Marie Metzger, Evelin Mihailov, Paul Mitchell, Matthias Nauck, Albertine J Oldehinkel, Matthias Olden, Brenda Wjh Penninx, Giorgio Pistis, Peter P Pramstaller, Nicole Probst-Hensch, Olli T Raitakari, Rainer Rettig, Paul M Ridker, Fernando Rivadeneira, Antonietta Robino, Sylvia E Rosas, Douglas Ruderfer, Daniela Ruggiero, Yasaman Saba, Cinzia Sala, Helena Schmidt, Reinhold Schmidt, Rodney J Scott, Sanaz Sedaghat, Albert V Smith, Rossella Sorice, Benedicte Stengel, Sylvia Stracke, Konstantin Strauch, Daniela Toniolo, Andre G Uitterlinden, Sheila Ulivi, Jorma S Viikari, Uwe Völker, Peter Vollenweider, Henry Völzke, Dragana Vuckovic, Melanie Waldenberger, Jie Jin Wang, Qiong Yang, Daniel I Chasman, Gerard Tromp, Harold Snieder, Iris M Heid, Caroline S Fox, Anna Köttgen, Cristian Pattaro, Carsten A Böger, Christian Fuchsberger
This corrects the article DOI: 10.1038/srep45040.

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Dec
1969

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Sci Rep 2017 04 28;7:45040. Epub 2017 Apr 28.
Mathias Gorski, Peter J van der Most, Alexander Teumer, Audrey Y Chu, Man Li, Vladan Mijatovic, Ilja M Nolte, Massimiliano Cocca, Daniel Taliun, Felicia Gomez, Yong Li, Bamidele Tayo, Adrienne Tin, Mary F Feitosa, Thor Aspelund, John Attia, Reiner Biffar, Murielle Bochud, Eric Boerwinkle, Ingrid Borecki, Erwin P Bottinger, Ming-Huei Chen, Vincent Chouraki, Marina Ciullo, Josef Coresh, Marilyn C Cornelis, Gary C Curhan, Adamo Pio d'Adamo, Abbas Dehghan, Laura Dengler, Jingzhong Ding, Gudny Eiriksdottir, Karlhans Endlich, Stefan Enroth, Tõnu Esko, Oscar H Franco, Paolo Gasparini, Christian Gieger, Giorgia Girotto, Omri Gottesman, Vilmundur Gudnason, Ulf Gyllensten, Stephen J Hancock, Tamara B Harris, Catherine Helmer, Simon Höllerer, Edith Hofer, Albert Hofman, Elizabeth G Holliday, Georg Homuth, Frank B Hu, Cornelia Huth, Nina Hutri-Kähönen, Shih-Jen Hwang, Medea Imboden, Åsa Johansson, Mika Kähönen, Wolfgang König, Holly Kramer, Bernhard K Krämer, Ashish Kumar, Zoltan Kutalik, Jean-Charles Lambert, Lenore J Launer, Terho Lehtimäki, Martin de Borst, Gerjan Navis, Morris Swertz, Yongmei Liu, Kurt Lohman, Ruth J F Loos, Yingchang Lu, Leo-Pekka Lyytikäinen, Mark A McEvoy, Christa Meisinger, Thomas Meitinger, Andres Metspalu, Marie Metzger, Evelin Mihailov, Paul Mitchell, Matthias Nauck, Albertine J Oldehinkel, Matthias Olden, Brenda Wjh Penninx, Giorgio Pistis, Peter P Pramstaller, Nicole Probst-Hensch, Olli T Raitakari, Rainer Rettig, Paul M Ridker, Fernando Rivadeneira, Antonietta Robino, Sylvia E Rosas, Douglas Ruderfer, Daniela Ruggiero, Yasaman Saba, Cinzia Sala, Helena Schmidt, Reinhold Schmidt, Rodney J Scott, Sanaz Sedaghat, Albert V Smith, Rossella Sorice, Benedicte Stengel, Sylvia Stracke, Konstantin Strauch, Daniela Toniolo, Andre G Uitterlinden, Sheila Ulivi, Jorma S Viikari, Uwe Völker, Peter Vollenweider, Henry Völzke, Dragana Vuckovic, Melanie Waldenberger, Jie Jin Wang, Qiong Yang, Daniel I Chasman, Gerard Tromp, Harold Snieder, Iris M Heid, Caroline S Fox, Anna Köttgen, Cristian Pattaro, Carsten A Böger, Christian Fuchsberger
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data.

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Aug
2017

Both perioperative chemotherapy (PECT) and postoperative chemoradiotherapy (POCRT) have a significant survival advantage over surgery alone for the treatment of patients with gastric cancer. However, to the best of our knowledge, these regimens have not been compared in a randomized clinical trial. The purpose of the current observational study was to compare overall survival among patients receiving PECT versus POCRT for the treatment of gastric/gastroesophageal junction (GEJ) adenocarcinomas.

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Apr
2017

Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (SERPINA1) encoding alpha-1 antitrypsin [AAT; p.

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Sep
2017

To assess the 5-year progression from unilateral to bilateral age-related macular degeneration (AMD) and associated risk factors.
Pooled data analyses of three prospective population-based cohorts, the Blue Mountains Eye Study, Beaver Dam Eye Study and Rotterdam Study.
Retinal photography and interview with comprehensive questionnaires were conducted at each visit of three studies.

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Dec
1969

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

PLoS One 2017 20;12(1):e0167742. Epub 2017 Jan 20.
Paul S de Vries, Maria Sabater-Lleal, Daniel I Chasman, Stella Trompet, Tarunveer S Ahluwalia, Alexander Teumer, Marcus E Kleber, Ming-Huei Chen, Jie Jin Wang, John R Attia, Riccardo E Marioni, Maristella Steri, Lu-Chen Weng, Rene Pool, Vera Grossmann, Jennifer A Brody, Cristina Venturini, Toshiko Tanaka, Lynda M Rose, Christopher Oldmeadow, Johanna Mazur, Saonli Basu, Mattias Frånberg, Qiong Yang, Symen Ligthart, Jouke J Hottenga, Ann Rumley, Antonella Mulas, Anton J M de Craen, Anne Grotevendt, Kent D Taylor, Graciela E Delgado, Annette Kifley, Lorna M Lopez, Tina L Berentzen, Massimo Mangino, Stefania Bandinelli, Alanna C Morrison, Anders Hamsten, Geoffrey Tofler, Moniek P M de Maat, Harmen H M Draisma, Gordon D Lowe, Magdalena Zoledziewska, Naveed Sattar, Karl J Lackner, Uwe Völker, Barbara McKnight, Jie Huang, Elizabeth G Holliday, Mark A McEvoy, John M Starr, Pirro G Hysi, Dena G Hernandez, Weihua Guan, Fernando Rivadeneira, Wendy L McArdle, P Eline Slagboom, Tanja Zeller, Bruce M Psaty, André G Uitterlinden, Eco J C de Geus, David J Stott, Harald Binder, Albert Hofman, Oscar H Franco, Jerome I Rotter, Luigi Ferrucci, Tim D Spector, Ian J Deary, Winfried März, Andreas Greinacher, Philipp S Wild, Francesco Cucca, Dorret I Boomsma, Hugh Watkins, Weihong Tang, Paul M Ridker, Jan W Jukema, Rodney J Scott, Paul Mitchell, Torben Hansen, Christopher J O'Donnell, Nicholas L Smith, David P Strachan, Abbas Dehghan
An increasing number of genome-wide association (GWA) studies are now using the higher resolution 1000 Genomes Project reference panel (1000G) for imputation, with the expectation that 1000G imputation will lead to the discovery of additional associated loci when compared to HapMap imputation. In order to assess the improvement of 1000G over HapMap imputation in identifying associated loci, we compared the results of GWA studies of circulating fibrinogen based on the two reference panels. Using both HapMap and 1000G imputation we performed a meta-analysis of 22 studies comprising the same 91,953 individuals.

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Feb
2017

We aimed to evaluate the effect of pain education on opioid prescribing by early-career general practitioners. A brief training workshop was delivered to general practice registrars of a single regional training provider. The workshop significantly reduced "hypothetical" opioid prescribing (in response to paper-based vignettes) in an earlier evaluation.

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Nov
2016

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

Nat Genet 2016 Nov;48(12):1591
Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R Gonzalez, Saskia Haitjema, Robert Karlsson, Sander W van der Laan, Karl-Heinz Ladwig, Jari Lahti, Sven J van der Lee, Penelope A Lind, Tian Liu, Lindsay Matteson, Evelin Mihailov, Michael B Miller, Camelia C Minica, Ilja M Nolte, Dennis Mook-Kanamori, Peter J van der Most, Christopher Oldmeadow, Yong Qian, Olli Raitakari, Rajesh Rawal, Anu Realo, Rico Rueedi, Börge Schmidt, Albert V Smith, Evie Stergiakouli, Toshiko Tanaka, Kent Taylor, Gudmar Thorleifsson, Juho Wedenoja, Juergen Wellmann, Harm-Jan Westra, Sara M Willems, Wei Zhao, , Najaf Amin, Andrew Bakshi, Sven Bergmann, Gyda Bjornsdottir, Patricia A Boyle, Samantha Cherney, Simon R Cox, Gail Davies, Oliver S P Davis, Jun Ding, Nese Direk, Peter Eibich, Rebecca T Emeny, Ghazaleh Fatemifar, Jessica D Faul, Luigi Ferrucci, Andreas J Forstner, Christian Gieger, Richa Gupta, Tamara B Harris, Juliette M Harris, Elizabeth G Holliday, Jouke-Jan Hottenga, Philip L De Jager, Marika A Kaakinen, Eero Kajantie, Ville Karhunen, Ivana Kolcic, Meena Kumari, Lenore J Launer, Lude Franke, Ruifang Li-Gao, David C Liewald, Marisa Koini, Anu Loukola, Pedro Marques-Vidal, Grant W Montgomery, Miriam A Mosing, Lavinia Paternoster, Alison Pattie, Katja E Petrovic, Laura Pulkki-Råback, Lydia Quaye, Katri Räikkönen, Igor Rudan, Rodney J Scott, Jennifer A Smith, Angelina R Sutin, Maciej Trzaskowski, Anna E Vinkhuyzen, Lei Yu, Delilah Zabaneh, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Dorret I Boomsma, Harold Snieder, Shun-Chiao Chang, Francesco Cucca, Ian J Deary, Cornelia M van Duijn, Johan G Eriksson, Ute Bültmann, Eco J C de Geus, Patrick J F Groenen, Vilmundur Gudnason, Torben Hansen, Catharine A Hartman, Claire M A Haworth, Caroline Hayward, Andrew C Heath, David A Hinds, Elina Hyppönen, William G William, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Liisa Keltikangas-Järvinen, Peter Kraft, Laura D Kubzansky, Terho Lehtimäki, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Melinda Mills, Renée de Mutsert, Albertine J Oldehinkel, Gerard Pasterkamp, Nancy L Pedersen, Robert Plomin, Ozren Polasek, Christine Power, Stephen S Rich, Frits R Rosendaal, Hester M den Ruijter, David Schlessinger, Helena Schmidt, Rauli Svento, Reinhold Schmidt, Behrooz Z Alizadeh, Thorkild I A Sørensen, Tim D Spector, John M Starr, Kari Stefansson, Andrew Steptoe, Antonio Terracciano, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, André G Uitterlinden, Peter Vollenweider, Gert G Wagner, David R Weir, Jian Yang, Dalton C Conley, George Davey Smith, Albert Hofman, Magnus Johannesson, David I Laibson, Sarah E Medland, Michelle N Meyer, Joseph K Pickrell, Tõnu Esko, Robert F Krueger, Jonathan P Beauchamp, Philipp D Koellinger, Daniel J Benjamin, Meike Bartels, David Cesarini

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Nov
2016

The strongest known risk factor for endometrial cancer is obesity. To determine whether SNPs associated with increased body mass index (BMI) or waist-hip ratio (WHR) are associated with endometrial cancer risk, independent of measured BMI, we investigated relationships between 77 BMI and 47 WHR SNPs and endometrial cancer in 6,609 cases and 37,926 country-matched controls.
Logistic regression analysis and fixed effects meta-analysis were used to test for associations between endometrial cancer risk and (i) individual BMI or WHR SNPs, (ii) a combined weighted genetic risk score (wGRS) for BMI or WHR.

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Dec
2016

Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Nat Genet 2016 Dec 31;48(12):1462-1472. Epub 2016 Oct 31.
Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemakers, Felix C Tropf, Xia Shen, James F Wilson, Daniel I Chasman, Ilja M Nolte, Vinicius Tragante, Sander W van der Laan, John R B Perry, Augustine Kong, , Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayers, Andrew Bakshi, Danny Ben-Avraham, Klaus Berger, Aviv Bergman, Lars Bertram, Lawrence F Bielak, Gyda Bjornsdottir, Marc Jan Bonder, Linda Broer, Minh Bui, Caterina Barbieri, Alana Cavadino, Jorge E Chavarro, Constance Turman, Maria Pina Concas, Heather J Cordell, Gail Davies, Peter Eibich, Nicholas Eriksson, Tõnu Esko, Joel Eriksson, Fahimeh Falahi, Janine F Felix, Mark Alan Fontana, Lude Franke, Ilaria Gandin, Audrey J Gaskins, Christian Gieger, Erica P Gunderson, Xiuqing Guo, Caroline Hayward, Chunyan He, Edith Hofer, Hongyan Huang, Peter K Joshi, Stavroula Kanoni, Robert Karlsson, Stefan Kiechl, Annette Kifley, Alexander Kluttig, Peter Kraft, Vasiliki Lagou, Cecile Lecoeur, Jari Lahti, Ruifang Li-Gao, Penelope A Lind, Tian Liu, Enes Makalic, Crysovalanto Mamasoula, Lindsay Matteson, Hamdi Mbarek, Patrick F McArdle, George McMahon, S Fleur W Meddens, Evelin Mihailov, Mike Miller, Stacey A Missmer, Claire Monnereau, Peter J van der Most, Ronny Myhre, Mike A Nalls, Teresa Nutile, Ioanna Panagiota Kalafati, Eleonora Porcu, Inga Prokopenko, Kumar B Rajan, Janet Rich-Edwards, Cornelius A Rietveld, Antonietta Robino, Lynda M Rose, Rico Rueedi, Kathleen A Ryan, Yasaman Saba, Daniel Schmidt, Jennifer A Smith, Lisette Stolk, Elizabeth Streeten, Anke Tönjes, Gudmar Thorleifsson, Sheila Ulivi, Juho Wedenoja, Juergen Wellmann, Peter Willeit, Jie Yao, Loic Yengo, Jing Hua Zhao, Wei Zhao, Daria V Zhernakova, Najaf Amin, Howard Andrews, Beverley Balkau, Nir Barzilai, Sven Bergmann, Ginevra Biino, Hans Bisgaard, Klaus Bønnelykke, Dorret I Boomsma, Julie E Buring, Harry Campbell, Stefania Cappellani, Marina Ciullo, Simon R Cox, Francesco Cucca, Daniela Toniolo, George Davey-Smith, Ian J Deary, George Dedoussis, Panos Deloukas, Cornelia M van Duijn, Eco J C de Geus, Johan G Eriksson, Denis A Evans, Jessica D Faul, Cinzia Felicita Sala, Philippe Froguel, Paolo Gasparini, Giorgia Girotto, Hans-Jörgen Grabe, Karin Halina Greiser, Patrick J F Groenen, Hugoline G de Haan, Johannes Haerting, Tamara B Harris, Andrew C Heath, Kauko Heikkilä, Albert Hofman, Georg Homuth, Elizabeth G Holliday, John Hopper, Elina Hyppönen, Bo Jacobsson, Vincent W V Jaddoe, Magnus Johannesson, Astanand Jugessur, Mika Kähönen, Eero Kajantie, Sharon L R Kardia, Bernard Keavney, Ivana Kolcic, Päivikki Koponen, Peter Kovacs, Florian Kronenberg, Zoltan Kutalik, Martina La Bianca, Genevieve Lachance, William G Iacono, Sandra Lai, Terho Lehtimäki, David C Liewald, , Cecilia M Lindgren, Yongmei Liu, Robert Luben, Michael Lucht, Riitta Luoto, Per Magnus, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Ruth McQuillan, Sarah E Medland, Christa Meisinger, Dan Mellström, Andres Metspalu, Michela Traglia, Lili Milani, Paul Mitchell, Grant W Montgomery, Dennis Mook-Kanamori, Renée de Mutsert, Ellen A Nohr, Claes Ohlsson, Jørn Olsen, Ken K Ong, Lavinia Paternoster, Alison Pattie, Brenda W J H Penninx, Markus Perola, Patricia A Peyser, Mario Pirastu, Ozren Polasek, Chris Power, Jaakko Kaprio, Leslie J Raffel, Katri Räikkönen, Olli Raitakari, Paul M Ridker, Susan M Ring, Kathryn Roll, Igor Rudan, Daniela Ruggiero, Dan Rujescu, Veikko Salomaa, David Schlessinger, Helena Schmidt, Reinhold Schmidt, Nicole Schupf, Johannes Smit, Rossella Sorice, Tim D Spector, John M Starr, Doris Stöckl, Konstantin Strauch, Michael Stumvoll, Morris A Swertz, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Joyce Y Tung, André G Uitterlinden, Simona Vaccargiu, Jorma Viikari, Veronique Vitart, Henry Völzke, Peter Vollenweider, Dragana Vuckovic, Johannes Waage, Gert G Wagner, Jie Jin Wang, Nicholas J Wareham, David R Weir, Gonneke Willemsen, Johann Willeit, Alan F Wright, Krina T Zondervan, Kari Stefansson, Robert F Krueger, James J Lee, Daniel J Benjamin, David Cesarini, Philipp D Koellinger, Marcel den Hoed, Harold Snieder, Melinda C Mills
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB.

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Dec
1969

It remains unclear whether eradication of oligometastases by stereotactic body radiation therapy or other means will result in cure or prolongation of survival in some cases, or merely provide palliation. We address this issue with prospectively collected progression and treatment data from the TROG 03.04 RADAR randomised controlled trial for men with locally advanced prostate cancer (PC).

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Jan
2017

Cervical artery dissection (CAD) is a leading cause of stroke among middle-aged adults, but the etiology is unclear. Some reports of seasonal variation in CAD incidence have been suggested but may reflect extreme climatic conditions. Seasonal variation may implicate more transient seasonal causes such as proinflammatory or hypercoagulable states.

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Dec
1969

Home visits (HVs) and nursing home visits (NHVs) are accepted as core elements of general practice. There is concern regarding declining rates of HVs and an increasing demand for NHVs together with a perceived decreased willingness of younger GPs to provide these services.
To establish the prevalence and associations of recently vocationally qualified GPs ('graduates') performing HVs and NHVs.

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Dec
1969

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

Nat Genet 2016 07;48(8):970
Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R Gonzalez, Saskia Haitjema, Robert Karlsson, Sander W van der Laan, Karl-Heinz Ladwig, Jari Lahti, Sven J van der Lee, Penelope A Lind, Tian Liu, Lindsay Matteson, Evelin Mihailov, Michael B Miller, Camelia C Minica, Ilja M Nolte, Dennis Mook-Kanamori, Peter J van der Most, Christopher Oldmeadow, Yong Qian, Olli Raitakari, Rajesh Rawal, Anu Realo, Rico Rueedi, Börge Schmidt, Albert V Smith, Evie Stergiakouli, Toshiko Tanaka, Kent Taylor, Gudmar Thorleifsson, Juho Wedenoja, Juergen Wellmann, Harm-Jan Westra, Sara M Willems, Wei Zhao, , Najaf Amin, Andrew Bakshi, Sven Bergmann, Gyda Bjornsdottir, Patricia A Boyle, Samantha Cherney, Simon R Cox, Gail Davies, Oliver S P Davis, Jun Ding, Nese Direk, Peter Eibich, Rebecca T Emeny, Ghazaleh Fatemifar, Jessica D Faul, Luigi Ferrucci, Andreas J Forstner, Christian Gieger, Richa Gupta, Tamara B Harris, Juliette M Harris, Elizabeth G Holliday, Jouke-Jan Hottenga, Philip L De Jager, Marika A Kaakinen, Eero Kajantie, Ville Karhunen, Ivana Kolcic, Meena Kumari, Lenore J Launer, Lude Franke, Ruifang Li-Gao, David C Liewald, Marisa Koini, Anu Loukola, Pedro Marques-Vidal, Grant W Montgomery, Miriam A Mosing, Lavinia Paternoster, Alison Pattie, Katja E Petrovic, Laura Pulkki-Råback, Lydia Quaye, Katri Räikkönen, Igor Rudan, Rodney J Scott, Jennifer A Smith, Angelina R Sutin, Maciej Trzaskowski, Anna E Vinkhuyzen, Lei Yu, Delilah Zabaneh, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Dorret I Boomsma, Harold Snieder, Shun-Chiao Chang, Francesco Cucca, Ian J Deary, Cornelia M van Duijn, Johan G Eriksson, Ute Bültmann, Eco J C de Geus, Patrick J F Groenen, Vilmundur Gudnason, Torben Hansen, Catharine A Hartman, Claire M A Haworth, Caroline Hayward, Andrew C Heath, David A Hinds, Elina Hyppönen, William G Iacono, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Liisa Keltikangas-Järvinen, Peter Kraft, Laura D Kubzansky, Terho Lehtimäki, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Melinda Mills, Renée de Mutsert, Albertine J Oldehinkel, Gerard Pasterkamp, Nancy L Pedersen, Robert Plomin, Ozren Polasek, Christine Power, Stephen S Rich, Frits R Rosendaal, Hester M den Ruijter, David Schlessinger, Helena Schmidt, Rauli Svento, Reinhold Schmidt, Behrooz Z Alizadeh, Thorkild I A Sørensen, Tim D Spector, John M Starr, Kari Stefansson, Andrew Steptoe, Antonio Terracciano, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, André G Uitterlinden, Peter Vollenweider, Gert G Wagner, David R Weir, Jian Yang, Dalton C Conley, George Davey Smith, Albert Hofman, Magnus Johannesson, David I Laibson, Sarah E Medland, Michelle N Meyer, Joseph K Pickrell, Tõnu Esko, Robert F Krueger, Jonathan P Beauchamp, Philipp D Koellinger, Daniel J Benjamin, Meike Bartels, David Cesarini

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May
2016

The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contains a short tandem repeat (STR) in its upstream regulatory region which has the potential to alter gene expression. The presence of this STR has not previously been analysed in relation to breast or endometrial cancer risk.

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Dec
1969

Genome-wide association study identifies 74 loci associated with educational attainment.

Nature 2016 05 11;533(7604):539-42. Epub 2016 May 11.
Aysu Okbay, Jonathan P Beauchamp, Mark Alan Fontana, James J Lee, Tune H Pers, Cornelius A Rietveld, Patrick Turley, Guo-Bo Chen, Valur Emilsson, S Fleur W Meddens, Sven Oskarsson, Joseph K Pickrell, Kevin Thom, Pascal Timshel, Ronald de Vlaming, Abdel Abdellaoui, Tarunveer S Ahluwalia, Jonas Bacelis, Clemens Baumbach, Gyda Bjornsdottir, Johannes H Brandsma, Maria Pina Concas, Jaime Derringer, Nicholas A Furlotte, Tessel E Galesloot, Giorgia Girotto, Richa Gupta, Leanne M Hall, Sarah E Harris, Edith Hofer, Momoko Horikoshi, Jennifer E Huffman, Kadri Kaasik, Ioanna P Kalafati, Robert Karlsson, Augustine Kong, Jari Lahti, Sven J van der Lee, Christiaan deLeeuw, Penelope A Lind, Karl-Oskar Lindgren, Tian Liu, Massimo Mangino, Jonathan Marten, Evelin Mihailov, Michael B Miller, Peter J van der Most, Christopher Oldmeadow, Antony Payton, Natalia Pervjakova, Wouter J Peyrot, Yong Qian, Olli Raitakari, Rico Rueedi, Erika Salvi, Börge Schmidt, Katharina E Schraut, Jianxin Shi, Albert V Smith, Raymond A Poot, Beate St Pourcain, Alexander Teumer, Gudmar Thorleifsson, Niek Verweij, Dragana Vuckovic, Juergen Wellmann, Harm-Jan Westra, Jingyun Yang, Wei Zhao, Zhihong Zhu, Behrooz Z Alizadeh, Najaf Amin, Andrew Bakshi, Sebastian E Baumeister, Ginevra Biino, Klaus Bønnelykke, Patricia A Boyle, Harry Campbell, Francesco P Cappuccio, Gail Davies, Jan-Emmanuel De Neve, Panos Deloukas, Ilja Demuth, Jun Ding, Peter Eibich, Lewin Eisele, Niina Eklund, David M Evans, Jessica D Faul, Mary F Feitosa, Andreas J Forstner, Ilaria Gandin, Bjarni Gunnarsson, Bjarni V Halldórsson, Tamara B Harris, Andrew C Heath, Lynne J Hocking, Elizabeth G Holliday, Georg Homuth, Michael A Horan, Jouke-Jan Hottenga, Philip L de Jager, Peter K Joshi, Astanand Jugessur, Marika A Kaakinen, Mika Kähönen, Stavroula Kanoni, Liisa Keltigangas-Järvinen, Lambertus A L M Kiemeney, Ivana Kolcic, Seppo Koskinen, Aldi T Kraja, Martin Kroh, Zoltan Kutalik, Antti Latvala, Lenore J Launer, Maël P Lebreton, Douglas F Levinson, Paul Lichtenstein, Peter Lichtner, David C M Liewald, , Anu Loukola, Pamela A Madden, Reedik Mägi, Tomi Mäki-Opas, Riccardo E Marioni, Pedro Marques-Vidal, Gerardus A Meddens, George McMahon, Christa Meisinger, Thomas Meitinger, Yusplitri Milaneschi, Lili Milani, Grant W Montgomery, Ronny Myhre, Christopher P Nelson, Dale R Nyholt, William E R Ollier, Aarno Palotie, Lavinia Paternoster, Nancy L Pedersen, Katja E Petrovic, David J Porteous, Katri Räikkönen, Susan M Ring, Antonietta Robino, Olga Rostapshova, Igor Rudan, Aldo Rustichini, Veikko Salomaa, Alan R Sanders, Antti-Pekka Sarin, Helena Schmidt, Rodney J Scott, Blair H Smith, Jennifer A Smith, Jan A Staessen, Elisabeth Steinhagen-Thiessen, Konstantin Strauch, Antonio Terracciano, Martin D Tobin, Sheila Ulivi, Simona Vaccargiu, Lydia Quaye, Frank J A van Rooij, Cristina Venturini, Anna A E Vinkhuyzen, Uwe Völker, Henry Völzke, Judith M Vonk, Diego Vozzi, Johannes Waage, Erin B Ware, Gonneke Willemsen, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Hans Bisgaard, Dorret I Boomsma, Ingrid B Borecki, Ute Bültmann, Christopher F Chabris, Francesco Cucca, Daniele Cusi, Ian J Deary, George V Dedoussis, Cornelia M van Duijn, Johan G Eriksson, Barbara Franke, Lude Franke, Paolo Gasparini, Pablo V Gejman, Christian Gieger, Hans-Jörgen Grabe, Jacob Gratten, Patrick J F Groenen, Vilmundur Gudnason, Pim van der Harst, Caroline Hayward, David A Hinds, Wolfgang Hoffmann, Elina Hyppönen, William G Iacono, Bo Jacobsson, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Terho Lehtimäki, Steven F Lehrer, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Neil Pendleton, Brenda W J H Penninx, Markus Perola, Nicola Pirastu, Mario Pirastu, Ozren Polasek, Danielle Posthuma, Christine Power, Michael A Province, Nilesh J Samani, David Schlessinger, Reinhold Schmidt, Thorkild I A Sørensen, Tim D Spector, Kari Stefansson, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, Joyce Y Tung, André G Uitterlinden, Veronique Vitart, Peter Vollenweider, David R Weir, James F Wilson, Alan F Wright, Dalton C Conley, Robert F Krueger, George Davey Smith, Albert Hofman, David I Laibson, Sarah E Medland, Michelle N Meyer, Jian Yang, Magnus Johannesson, Peter M Visscher, Tõnu Esko, Philipp D Koellinger, David Cesarini, Daniel J Benjamin
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed.

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Dec
1969

Five endometrial cancer risk loci identified through genome-wide association analysis.

Nat Genet 2016 06 2;48(6):667-674. Epub 2016 May 2.
Timothy Ht Cheng, Deborah J Thompson, Tracy A O'Mara, Jodie N Painter, Dylan M Glubb, Susanne Flach, Annabelle Lewis, Juliet D French, Luke Freeman-Mills, David Church, Maggie Gorman, Lynn Martin, , Shirley Hodgson, Penelope M Webb, , John Attia, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Anjali K Henders, Nicholas G Martin, Grant W Montgomery, Dale R Nyholt, Shahana Ahmed, Catherine S Healey, Mitul Shah, Joe Dennis, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Per Hall, Kamila Czene, Hatef Darabi, Jingmei Li, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo Runnebaum, Frederic Amant, Stefanie Schrauwen, Hui Zhao, Diether Lambrechts, Jeroen Depreeuw, Sean C Dowdy, Ellen L Goode, Brooke L Fridley, Stacey J Winham, Tormund S Njølstad, Helga B Salvesen, Jone Trovik, Henrica Mj Werner, Katie Ashton, Geoffrey Otton, Tony Proietto, Tao Liu, Miriam Mints, Emma Tham, , Chibcha Consortium, Mulin Jun Li, Shun H Yip, Junwen Wang, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Jonathan P Tyrer, Malcolm Dunlop, Richard Houlston, Claire Palles, John L Hopper, , Julian Peto, Anthony J Swerdlow, Barbara Burwinkel, Hermann Brenner, Alfons Meindl, Hiltrud Brauch, Annika Lindblom, Jenny Chang-Claude, Fergus J Couch, Graham G Giles, Vessela N Kristensen, Angela Cox, Julie M Cunningham, Paul D P Pharoah, Alison M Dunning, Stacey L Edwards, Douglas F Easton, Ian Tomlinson, Amanda B Spurdle
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.

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Aug
2016

Inappropriate antibiotic prescription and subsequent antibacterial resistance are major threats to health worldwide.
We aimed to establish whether early-career 'apprenticeship-model' experience in family practice influences antibiotic prescribing for respiratory tract infections and to also establish other associations of antibiotic prescribing changes during this early-career experience.
A longitudinal analysis (2010-2014) of a cohort study of Australian GP registrars' (vocational trainees') consultations.

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May
2016

Due to the lack of high-throughput genetic assays for tandem repeats, there is a paucity of knowledge about the role they may play in disease. A polymorphic CA repeat in the promoter region of the insulin-like growth factor 1 gene (IGF1 has been studied extensively over the past 10 years for association with the risk of developing breast cancer, among other cancers, with variable results. The aim of this study was to determine if this CA repeat is associated with the risk of developing breast cancer and endometrial cancer.

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Dec
1969

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

Nat Genet 2016 06 18;48(6):624-33. Epub 2016 Apr 18.
Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R Gonzalez, Saskia Haitjema, Robert Karlsson, Sander W van der Laan, Karl-Heinz Ladwig, Jari Lahti, Sven J van der Lee, Penelope A Lind, Tian Liu, Lindsay Matteson, Evelin Mihailov, Michael B Miller, Camelia C Minica, Ilja M Nolte, Dennis Mook-Kanamori, Peter J van der Most, Christopher Oldmeadow, Yong Qian, Olli Raitakari, Rajesh Rawal, Anu Realo, Rico Rueedi, Börge Schmidt, Albert V Smith, Evie Stergiakouli, Toshiko Tanaka, Kent Taylor, Gudmar Thorleifsson, Juho Wedenoja, Juergen Wellmann, Harm-Jan Westra, Sara M Willems, Wei Zhao, , Najaf Amin, Andrew Bakshi, Sven Bergmann, Gyda Bjornsdottir, Patricia A Boyle, Samantha Cherney, Simon R Cox, Gail Davies, Oliver S P Davis, Jun Ding, Nese Direk, Peter Eibich, Rebecca T Emeny, Ghazaleh Fatemifar, Jessica D Faul, Luigi Ferrucci, Andreas J Forstner, Christian Gieger, Richa Gupta, Tamara B Harris, Juliette M Harris, Elizabeth G Holliday, Jouke-Jan Hottenga, Philip L De Jager, Marika A Kaakinen, Eero Kajantie, Ville Karhunen, Ivana Kolcic, Meena Kumari, Lenore J Launer, Lude Franke, Ruifang Li-Gao, David C Liewald, Marisa Koini, Anu Loukola, Pedro Marques-Vidal, Grant W Montgomery, Miriam A Mosing, Lavinia Paternoster, Alison Pattie, Katja E Petrovic, Laura Pulkki-Råback, Lydia Quaye, Katri Räikkönen, Igor Rudan, Rodney J Scott, Jennifer A Smith, Angelina R Sutin, Maciej Trzaskowski, Anna E Vinkhuyzen, Lei Yu, Delilah Zabaneh, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Dorret I Boomsma, Harold Snieder, Shun-Chiao Chang, Francesco Cucca, Ian J Deary, Cornelia M van Duijn, Johan G Eriksson, Ute Bültmann, Eco J C de Geus, Patrick J F Groenen, Vilmundur Gudnason, Torben Hansen, Catharine A Hartman, Claire M A Haworth, Caroline Hayward, Andrew C Heath, David A Hinds, Elina Hyppönen, William G Iacono, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Liisa Keltikangas-Järvinen, Peter Kraft, Laura D Kubzansky, Terho Lehtimäki, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Melinda Mills, Renée de Mutsert, Albertine J Oldehinkel, Gerard Pasterkamp, Nancy L Pedersen, Robert Plomin, Ozren Polasek, Christine Power, Stephen S Rich, Frits R Rosendaal, Hester M den Ruijter, David Schlessinger, Helena Schmidt, Rauli Svento, Reinhold Schmidt, Behrooz Z Alizadeh, Thorkild I A Sørensen, Tim D Spector, John M Starr, Kari Stefansson, Andrew Steptoe, Antonio Terracciano, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, André G Uitterlinden, Peter Vollenweider, Gert G Wagner, David R Weir, Jian Yang, Dalton C Conley, George Davey Smith, Albert Hofman, Magnus Johannesson, David I Laibson, Sarah E Medland, Michelle N Meyer, Joseph K Pickrell, Tõnu Esko, Robert F Krueger, Jonathan P Beauchamp, Philipp D Koellinger, Daniel J Benjamin, Meike Bartels, David Cesarini
Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911).

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May
2016

White matter hyperintensities (WMH) are increased in patients with lacunar stroke. Whether this is because of shared pathogenesis remains unknown. Using genetic data, we evaluated whether WMH-associated genetic susceptibility factors confer risk of lacunar stroke, and therefore whether they share pathogenesis.

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Mar
2016

Apolipoprotein H (ApoH) is a multi-functional plasma glycoprotein that has been associated with negative health outcomes. ApoH levels have high heritability. We undertook a genome-wide association study of ApoH levels using the largest sample to date and replicated the results in an independent cohort (total N = 1,255).

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Dec
1969

Endometrial cancer is the most common gynecological malignancy in the developed world. Although there is evidence of genetic predisposition to the disease, most of the genetic risk remains unexplained. We present the meta-analysis results of four genome-wide association studies (4907 cases and 11 945 controls total) in women of European ancestry.

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Mar
2016

Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been shown to influence homocysteine levels; homocysteine has been implicated as a cataractogenic stressor.
To investigate the associations of MTHFR polymorphisms and serum homocysteine levels with incident cortical cataract in an older population.
From 1992 to 1994, a population-based cohort study, the Blue Mountains Eye Study, was conducted with 3654 residents (82.

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Mar
2016

To investigate the influence of common and low-frequency genetic variants on the risk of ischemic stroke (all IS) and etiologic stroke subtypes.
We meta-analyzed 12 individual genome-wide association studies comprising 10,307 cases and 19,326 controls imputed to the 1000 Genomes (1 KG) phase I reference panel. We selected variants showing the highest degree of association (p < 1E-5) in the discovery phase for replication in Caucasian (13,435 cases and 29,269 controls) and South Asian (2,385 cases and 5,193 controls) samples followed by a transethnic meta-analysis.

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Jan
2016

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nat Commun 2016 Jan 21;7:10023. Epub 2016 Jan 21.
Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H Pers, Andrew D Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d'Adamo, Adebowale Adeyemo, Aida Karina Dieffenbach, Alan B Zonderman, Ilja M Nolte, Peter J van der Most, Alan F Wright, Alan R Shuldiner, Alanna C Morrison, Albert Hofman, Albert V Smith, Albert W Dreisbach, Andre Franke, Andre G Uitterlinden, Andres Metspalu, Anke Tonjes, Antonio Lupo, Antonietta Robino, Åsa Johansson, Ayse Demirkan, Barbara Kollerits, Barry I Freedman, Belen Ponte, Ben A Oostra, Bernhard Paulweber, Bernhard K Krämer, Braxton D Mitchell, Brendan M Buckley, Carmen A Peralta, Caroline Hayward, Catherine Helmer, Charles N Rotimi, Christian M Shaffer, Christian Müller, Cinzia Sala, Cornelia M van Duijn, Aude Saint-Pierre, Daniel Ackermann, Daniel Shriner, Daniela Ruggiero, Daniela Toniolo, Yingchang Lu, Daniele Cusi, Darina Czamara, David Ellinghaus, David S Siscovick, Douglas Ruderfer, Christian Gieger, Harald Grallert, Elena Rochtchina, Elizabeth J Atkinson, Elizabeth G Holliday, Eric Boerwinkle, Erika Salvi, Erwin P Bottinger, Federico Murgia, Fernando Rivadeneira, Florian Ernst, Florian Kronenberg, Frank B Hu, Gerjan J Navis, Gary C Curhan, George B Ehret, Georg Homuth, Stefan Coassin, Gian-Andri Thun, Giorgio Pistis, Giovanni Gambaro, Giovanni Malerba, Grant W Montgomery, Gudny Eiriksdottir, Gunnar Jacobs, Guo Li, H-Erich Wichmann, Harry Campbell, Helena Schmidt, Henri Wallaschofski, Henry Völzke, Hermann Brenner, Heyo K Kroemer, Holly Kramer, Honghuang Lin, I Mateo Leach, Ian Ford, Idris Guessous, Igor Rudan, Inga Prokopenko, Ingrid Borecki, Iris M Heid, Ivana Kolcic, Ivana Persico, J Wouter Jukema, James F Wilson, Janine F Felix, Jasmin Divers, Jean-Charles Lambert, Jeanette M Stafford, Jean-Michel Gaspoz, Jennifer A Smith, Jessica D Faul, Jie Jin Wang, Jingzhong Ding, Joel N Hirschhorn, John Attia, John B Whitfield, John Chalmers, Jorma Viikari, Josef Coresh, Joshua C Denny, Juha Karjalainen, Jyotika K Fernandes, Karlhans Endlich, Katja Butterbach, Keith L Keene, Kurt Lohman, Laura Portas, Lenore J Launer, Leo-Pekka Lyytikäinen, Loic Yengo, Lude Franke, Luigi Ferrucci, Lynda M Rose, Lyudmyla Kedenko, Madhumathi Rao, Maksim Struchalin, Marcus E Kleber, Margherita Cavalieri, Margot Haun, Marilyn C Cornelis, Marina Ciullo, Mario Pirastu, Mariza de Andrade, Mark A McEvoy, Mark Woodward, Martin Adam, Massimiliano Cocca, Matthias Nauck, Medea Imboden, Melanie Waldenberger, Menno Pruijm, Marie Metzger, Michael Stumvoll, Michele K Evans, Michele M Sale, Mika Kähönen, Mladen Boban, Murielle Bochud, Myriam Rheinberger, Niek Verweij, Nabila Bouatia-Naji, Nicholas G Martin, Nick Hastie, Nicole Probst-Hensch, Nicole Soranzo, Olivier Devuyst, Olli Raitakari, Omri Gottesman, Oscar H Franco, Ozren Polasek, Paolo Gasparini, Patricia B Munroe, Paul M Ridker, Paul Mitchell, Paul Muntner, Christa Meisinger, Johannes H Smit, , , , , , Peter Kovacs, Philipp S Wild, Philippe Froguel, Rainer Rettig, Reedik Mägi, Reiner Biffar, Reinhold Schmidt, Rita P S Middelberg, Robert J Carroll, Brenda W Penninx, Rodney J Scott, Ronit Katz, Sanaz Sedaghat, Sarah H Wild, Sharon L R Kardia, Sheila Ulivi, Shih-Jen Hwang, Stefan Enroth, Stefan Kloiber, Stella Trompet, Benedicte Stengel, Stephen J Hancock, Stephen T Turner, Sylvia E Rosas, Sylvia Stracke, Tamara B Harris, Tanja Zeller, Tatijana Zemunik, Terho Lehtimäki, Thomas Illig, Thor Aspelund, Tiit Nikopensius, Tonu Esko, Toshiko Tanaka, Ulf Gyllensten, Uwe Völker, Valur Emilsson, Veronique Vitart, Ville Aalto, Vilmundur Gudnason, Vincent Chouraki, Wei-Min Chen, Wilmar Igl, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Ruth J F Loos, Yongmei Liu, Harold Snieder, Peter P Pramstaller, Afshin Parsa, Jeffrey R O'Connell, Katalin Susztak, Pavel Hamet, Johanne Tremblay, Ian H de Boer, Carsten A Böger, Wolfram Goessling, Daniel I Chasman, Anna Köttgen, W H Linda Kao, Caroline S Fox
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci.

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Feb
2016

Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early- versus late-onset stroke, we conducted a 2-stage meta-analysis of genome-wide association studies, focusing on stroke cases with an age of onset <60 years.
The discovery stage of our genome-wide association studies included 4505 cases and 21 968 controls of European, South-Asian, and African ancestry, drawn from 6 studies.

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Feb
2016

Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single nucleotide polymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome wide-significant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10(-11)).

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Jan
2016

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

Hum Mol Genet 2016 Jan 10;25(2):358-70. Epub 2015 Nov 10.
Paul S de Vries, Daniel I Chasman, Maria Sabater-Lleal, Ming-Huei Chen, Jennifer E Huffman, Maristella Steri, Weihong Tang, Alexander Teumer, Riccardo E Marioni, Vera Grossmann, Jouke J Hottenga, Stella Trompet, Martina Müller-Nurasyid, Jing Hua Zhao, Jennifer A Brody, Marcus E Kleber, Xiuqing Guo, Jie Jin Wang, Paul L Auer, John R Attia, Lisa R Yanek, Tarunveer S Ahluwalia, Jari Lahti, Cristina Venturini, Toshiko Tanaka, Lawrence F Bielak, Peter K Joshi, Ares Rocanin-Arjo, Ivana Kolcic, Pau Navarro, Lynda M Rose, Christopher Oldmeadow, Helene Riess, Johanna Mazur, Saonli Basu, Anuj Goel, Qiong Yang, Mohsen Ghanbari, Gonneke Willemsen, Ann Rumley, Edoardo Fiorillo, Anton J M de Craen, Anne Grotevendt, Robert Scott, Kent D Taylor, Graciela E Delgado, Jie Yao, Annette Kifley, Charles Kooperberg, Rehan Qayyum, Lorna M Lopez, Tina L Berentzen, Katri Räikkönen, Massimo Mangino, Stefania Bandinelli, Patricia A Peyser, Sarah Wild, David-Alexandre Trégouët, Alan F Wright, Jonathan Marten, Tatijana Zemunik, Alanna C Morrison, Bengt Sennblad, Geoffrey Tofler, Moniek P M de Maat, Eco J C de Geus, Gordon D Lowe, Magdalena Zoledziewska, Naveed Sattar, Harald Binder, Uwe Völker, Melanie Waldenberger, Kay-Tee Khaw, Barbara Mcknight, Jie Huang, Nancy S Jenny, Elizabeth G Holliday, Lihong Qi, Mark G Mcevoy, Diane M Becker, John M Starr, Antti-Pekka Sarin, Pirro G Hysi, Dena G Hernandez, Min A Jhun, Harry Campbell, Anders Hamsten, Fernando Rivadeneira, Wendy L Mcardle, P Eline Slagboom, Tanja Zeller, Wolfgang Koenig, Bruce M Psaty, Talin Haritunians, Jingmin Liu, Aarno Palotie, André G Uitterlinden, David J Stott, Albert Hofman, Oscar H Franco, Ozren Polasek, Igor Rudan, Pierre-Emmanuel Morange, James F Wilson, Sharon L R Kardia, Luigi Ferrucci, Tim D Spector, Johan G Eriksson, Torben Hansen, Ian J Deary, Lewis C Becker, Rodney J Scott, Paul Mitchell, Winfried März, Nick J Wareham, Annette Peters, Andreas Greinacher, Philipp S Wild, J Wouter Jukema, Dorret I Boomsma, Caroline Hayward, Francesco Cucca, Russell Tracy, Hugh Watkins, Alex P Reiner, Aaron R Folsom, Paul M Ridker, Christopher J O'Donnell, Nicholas L Smith, David P Strachan, Abbas Dehghan
Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels.

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Nov
2015

Evidence from epidemiological studies points to differences in factors predisposing to stroke by age and sex. Whether these arise because of different genetic influences remained untested. Here, we use data from 4 genome-wide association data sets to study the relationship between genetic influence on stroke with both age and sex.

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Oct
2015

Excessive exposure to estrogen is a well-established risk factor for endometrial cancer (EC), particularly for cancers of endometrioid histology. The physiological function of estrogen is primarily mediated by estrogen receptor alpha, encoded by ESR1. Consequently, several studies have investigated whether variation at the ESR1 locus is associated with risk of EC, with conflicting results.

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Jun
2015

The relative effects of radiation dose escalation (RDE) and androgen suppression (AS) duration on local prostatic progression (LP) remain unclear.
We addressed this in the TROG 03.04 RADAR trial by incorporating a RDE programme by stratification at randomisation.

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Jul
2015

Endometriosis is primarily characterized by the presence of tissue resembling endometrium outside the uterine cavity and is usually diagnosed by laparoscopy. The most commonly used classification of disease, the revised American Fertility Society (rAFS) system to grade endometriosis into different stages based on disease severity (I to IV), has been questioned as it does not correlate well with underlying symptoms, posing issues in diagnosis and choice of treatment. Using two independent European genome-wide association (GWA) datasets and top-level classification of the endometriosis cases based on rAFS [minimal or mild (Stage A) and moderate-to-severe (Stage B) disease], we previously showed that Stage B endometriosis has greater contribution of common genetic variation to its aetiology than Stage A disease.

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Oct
2015

No opioid receptor, mu 1 (OPRM1) gene polymorphisms, including the functional single nucleotide polymorphism (SNP) rs1799971, have been conclusively associated with heroin/other opioid addiction, despite their biological plausibility. We used evidence of polymorphisms altering OPRM1 expression in normal human brain tissue to nominate and then test associations with heroin addiction.
We tested 103 OPRM1 SNPs for association with OPRM1 messenger RNA expression in prefrontal cortex from 224 European Americans and African Americans of the BrainCloud cohort.

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Mar
2015

We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small vessel disease.
We conducted meta-analyses of existing genotype data among individuals of European ancestry to determine associations of 1,070 common single nucleotide polymorphisms (SNPs) in the COL4A1/COL4A2 genomic region with the following: intracerebral hemorrhage and its subtypes (deep, lobar) (1,545 cases, 1,485 controls); ischemic stroke and its subtypes (cardioembolic, large vessel disease, lacunar) (12,389 cases, 62,004 controls); and white matter hyperintensities (2,733 individuals with ischemic stroke and 9,361 from population-based cohorts with brain MRI data). We calculated a statistical significance threshold that accounted for multiple testing and linkage disequilibrium between SNPs (p < 0.

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Apr
2015

Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.

Biol Psychiatry 2015 Apr 25;77(8):749-63. Epub 2014 Nov 25.
Stéphanie Debette, Carla A Ibrahim Verbaas, Jan Bressler, Maaike Schuur, Albert Smith, Joshua C Bis, Gail Davies, Christiane Wolf, Vilmundur Gudnason, Lori B Chibnik, Qiong Yang, Anita L deStefano, Dominique J F de Quervain, Velandai Srikanth, Jari Lahti, Hans J Grabe, Jennifer A Smith, Lutz Priebe, Lei Yu, Nazanin Karbalai, Caroline Hayward, James F Wilson, Harry Campbell, Katja Petrovic, Myriam Fornage, Ganesh Chauhan, Robin Yeo, Ruth Boxall, James Becker, Oliver Stegle, Karen A Mather, Vincent Chouraki, Qi Sun, Lynda M Rose, Susan Resnick, Christopher Oldmeadow, Mirna Kirin, Alan F Wright, Maria K Jonsdottir, Rhoda Au, Albert Becker, Najaf Amin, Mike A Nalls, Stephen T Turner, Sharon L R Kardia, Ben Oostra, Gwen Windham, Laura H Coker, Wei Zhao, David S Knopman, Gerardo Heiss, Michael E Griswold, Rebecca F Gottesman, Veronique Vitart, Nicholas D Hastie, Lina Zgaga, Igor Rudan, Ozren Polasek, Elizabeth G Holliday, Peter Schofield, Seung Hoan Choi, Toshiko Tanaka, Yang An, Rodney T Perry, Richard E Kennedy, Michèle M Sale, Jing Wang, Virginia G Wadley, David C Liewald, Paul M Ridker, Alan J Gow, Alison Pattie, John M Starr, David Porteous, Xuan Liu, Russell Thomson, Nicola J Armstrong, Gudny Eiriksdottir, Arezoo A Assareh, Nicole A Kochan, Elisabeth Widen, Aarno Palotie, Yi-Chen Hsieh, Johan G Eriksson, Christian Vogler, John C van Swieten, Joshua M Shulman, Alexa Beiser, Jerome Rotter, Carsten O Schmidt, Wolfgang Hoffmann, Markus M Nöthen, Luigi Ferrucci, John Attia, Andre G Uitterlinden, Philippe Amouyel, Jean-François Dartigues, Hélène Amieva, Katri Räikkönen, Melissa Garcia, Philip A Wolf, Albert Hofman, W T Longstreth, Bruce M Psaty, Eric Boerwinkle, Philip L DeJager, Perminder S Sachdev, Reinhold Schmidt, Monique M B Breteler, Alexander Teumer, Oscar L Lopez, Sven Cichon, Daniel I Chasman, Francine Grodstein, Bertram Müller-Myhsok, Christophe Tzourio, Andreas Papassotiropoulos, David A Bennett, M Arfan Ikram, Ian J Deary, Cornelia M van Duijn, Lenore Launer, Annette L Fitzpatrick, Sudha Seshadri, Thomas H Mosley,
Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting.
We conducted genome-wide association studies for paragraph or word list delayed recall in 19 cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, comprising 29,076 dementia- and stroke-free individuals of European descent, aged ≥45 years.

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Feb
2015

Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been consistently identified. We aimed to identify single nucleotide polymorphisms (SNPs) associated with GS in middle-aged to older adults using a genome-wide association study (GWAS). GS was measured using handheld dynamometry in community-dwelling men and women aged 55-85 from the Hunter Community Study (HCS, N = 2088) and the Sydney Memory and Ageing Study (Sydney MAS, N = 541).

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Mar
2015

Despite moderate heritability, the phenotypic heterogeneity of ischemic stroke has hampered gene discovery, motivating analyses of diagnostic subtypes with reduced sample sizes. We assessed evidence for a shared genetic basis among the 3 major subtypes: large artery atherosclerosis (LAA), cardioembolism, and small vessel disease (SVD), to inform potential cross-subtype analyses.
Analyses used genome-wide summary data for 12 389 ischemic stroke cases (including 2167 LAA, 2405 cardioembolism, and 1854 SVD) and 62 004 controls from the Metastroke consortium.

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May
2015

Genome-wide association study of kidney function decline in individuals of European descent.

Kidney Int 2015 May 10;87(5):1017-29. Epub 2014 Dec 10.
Mathias Gorski, Adrienne Tin, Maija Garnaas, Gearoid M McMahon, Audrey Y Chu, Bamidele O Tayo, Cristian Pattaro, Alexander Teumer, Daniel I Chasman, John Chalmers, Pavel Hamet, Johanne Tremblay, Marc Woodward, Thor Aspelund, Gudny Eiriksdottir, Vilmundur Gudnason, Tamara B Harris, Lenore J Launer, Albert V Smith, Braxton D Mitchell, Jeffrey R O'Connell, Alan R Shuldiner, Josef Coresh, Man Li, Paul Freudenberger, Edith Hofer, Helena Schmidt, Reinhold Schmidt, Elizabeth G Holliday, Paul Mitchell, Jie Jin Wang, Ian H de Boer, Guo Li, David S Siscovick, Zoltan Kutalik, Tanguy Corre, Peter Vollenweider, Gérard Waeber, Jayanta Gupta, Peter A Kanetsky, Shih-Jen Hwang, Matthias Olden, Qiong Yang, Mariza de Andrade, Elizabeth J Atkinson, Sharon L R Kardia, Stephen T Turner, Jeanette M Stafford, Jingzhong Ding, Yongmei Liu, Cristina Barlassina, Daniele Cusi, Erika Salvi, Jan A Staessen, Paul M Ridker, Harald Grallert, Christa Meisinger, Martina Müller-Nurasyid, Bernhard K Krämer, Holly Kramer, Sylvia E Rosas, Ilja M Nolte, Brenda W Penninx, Harold Snieder, M Fabiola Del Greco, Andre Franke, Ute Nöthlings, Wolfgang Lieb, Stephan J L Bakker, Ron T Gansevoort, Pim van der Harst, Abbas Dehghan, Oscar H Franco, Albert Hofman, Fernando Rivadeneira, Sanaz Sedaghat, André G Uitterlinden, Stefan Coassin, Margot Haun, Barbara Kollerits, Florian Kronenberg, Bernhard Paulweber, Nicole Aumann, Karlhans Endlich, Mike Pietzner, Uwe Völker, Rainer Rettig, Vincent Chouraki, Catherine Helmer, Jean-Charles Lambert, Marie Metzger, Benedicte Stengel, Terho Lehtimäki, Leo-Pekka Lyytikäinen, Olli Raitakari, Andrew Johnson, Afshin Parsa, Murielle Bochud, Iris M Heid, Wolfram Goessling, Anna Köttgen, W H Linda Kao, Caroline S Fox, Carsten A Böger
Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic analysis of kidney function decline over time is missing. Here we conducted a GWAS meta-analysis among 63,558 participants of European descent, initially from 16 cohorts with serial kidney function measurements within the CKDGen Consortium, followed by independent replication among additional participants from 13 cohorts. In stage 1 GWAS meta-analysis, single-nucleotide polymorphisms (SNPs) at MEOX2, GALNT11, IL1RAP, NPPA, HPCAL1, and CDH23 showed the strongest associations for at least one trait, in addition to the known UMOD locus, which showed genome-wide significance with an annual change in eGFR.

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