Helping You Find Full Text Journal Articles

Search Results:

Author: Josef Frank (62)


Jan
2018

Sleep spindles are a hallmark of NREM stage 2 sleep. Fast sleep spindles correlate with cognitive functioning, and are reduced in schizophrenia. Although spindles are highly genetically determined, distinct genetic mechanisms influencing sleep spindle activity have not been identified so far.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2017

Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Alcohol metabolizing enzymes, such as the alcohol dehydrogenases and the aldehyde dehydrogenases, regulate the levels of acetaldehyde in the blood and play an important role in the development and maintenance of alcohol addiction. Recent genome-wide systematic searches found associations between a single nucleotide polymorphism (rs1789891, risk allele: A, protective allele: C) in the alcohol dehydrogenase gene cluster and the risk of alcohol dependence. The current study investigated the effect of this single nucleotide polymorphism on alcohol consumption, craving for alcohol, relapse risk and brain gray matter volume.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Genome-wide association studies (GWAS) and proteomic studies have provided convincing evidence implicating alterations in immune/inflammatory processes in schizophrenia. However, despite the convergence of evidence, direct links between the genetic and proteomic findings are still lacking for schizophrenia. We investigated associations between single nucleotide polymorphisms (SNPs) from the custom-made PsychArray and the expression levels of 190 multiplex immunoassay profiled serum proteins in 149 schizophrenia patients and 198 matched controls.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2017

Genome-wide association study identifies inversion in thelocus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.

Gut 2017 Jul 28. Epub 2017 Jul 28.
Jonas Rosendahl, Holger Kirsten, Eszter Hegyi, Peter Kovacs, Frank Ulrich Weiss, Helmut Laumen, Peter Lichtner, Claudia Ruffert, Jian-Min Chen, Emmanuelle Masson, Sebastian Beer, Constantin Zimmer, Katharina Seltsam, Hana Algül, Florence Bühler, Marco J Bruno, Peter Bugert, Ralph Burkhardt, Giulia Martina Cavestro, Halina Cichoz-Lach, Antoni Farré, Josef Frank, Giovanni Gambaro, Sebastian Gimpfl, Harald Grallert, Heidi Griesmann, Robert Grützmann, Claus Hellerbrand, Péter Hegyi, Marcus Hollenbach, Sevastitia Iordache, Grazyna Jurkowska, Volker Keim, Falk Kiefer, Sebastian Krug, Olfert Landt, Milena Di Leo, Markus M Lerch, Philippe Lévy, Markus Löffler, Matthias Löhr, Maren Ludwig, Milan Macek, Nuria Malats, Ewa Malecka-Panas, Giovanni Malerba, Karl Mann, Julia Mayerle, Sonja Mohr, Rene H M Te Morsche, Marie Motyka, Sebastian Mueller, Thomas Müller, Markus M Nöthen, Sergio Pedrazzoli, Stephen P Pereira, Annette Peters, Roland Pfützer, Francisco X Real, Vinciane Rebours, Monika Ridinger, Marcella Rietschel, Eva Rösmann, Adrian Saftoiu, Alexander Schneider, Hans-Ulrich Schulz, Nicole Soranzo, Michael Soyka, Peter Simon, James Skipworth, Felix Stickel, Konstantin Strauch, Michael Stumvoll, Pier Alberto Testoni, Anke Tönjes, Lena Werner, Jens Werner, Norbert Wodarz, Martin Ziegler, Atsushi Masamune, Joachim Mössner, Claude Férec, Patrick Michl, Joost P H Drenth, Heiko Witt, Markus Scholz, Miklós Sahin-Tóth,
Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Major depression disorder (MDD) is a complex neuropsychiatric disorder and an increasing number of genetic risk variants are being identified. Investigation of their influence in the general population requires accurate and efficient assessment of depressive symptoms. Here, clinical interviews conducted by clinicians are the gold standard.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2017

Telomere length (TL) is a marker of biological aging, and numerous studies have shown associations between TL and somatic or psychiatric disorders. Research also indicates an association between maternal stress during pregnancy and TL in the offspring. The present study investigated possible associations between TL and: (1) maternal perceived stress during pregnancy; (2) a maternal lifetime history of psychiatric disorder (lifetime PD); and (3) paternal age.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The brain neuropeptide S (NPS) system has recently generated substantial interest and may be of major relevance for central stress regulation. The NPS receptor (NPSR1) is highly expressed in the limbic system, exogenous NPS exerts pronounced anxiolytic and fear-attenuating effects in rodents and extensive close crosstalk between the NPS system and the hypothalamic-pituitary-adrenal (HPA) axis has been demonstrated. In humans, associations between NPSR1 variants and anxiety and panic disorder, as well as amygdala responsiveness to fear- relevant faces and prefrontal cortex activity in a fear conditioning paradigm have been reported.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Nat Genet 2017 Jan 21;49(1):27-35. Epub 2016 Nov 21.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto, Madhusudan Gujral, William M Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V Fuentes Fajarado, Michelle S Maile, Stephan Ripke, Ingrid Agartz, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu A Bacanu, Richard A Belliveau, Sarah E Bergen, Marcelo Bertalan, Elizabeth Bevilacqua, Tim B Bigdeli, Donald W Black, Richard Bruggeman, Nancy G Buccola, Randy L Buckner, Brendan Bulik-Sullivan, William Byerley, Wiepke Cahn, Guiqing Cai, Murray J Cairns, Dominique Campion, Rita M Cantor, Vaughan J Carr, Noa Carrera, Stanley V Catts, Kimberley D Chambert, Wei Cheng, C Robert Cloninger, David Cohen, Paul Cormican, Nick Craddock, Benedicto Crespo-Facorro, James J Crowley, David Curtis, Michael Davidson, Kenneth L Davis, Franziska Degenhardt, Jurgen Del Favero, Lynn E DeLisi, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H Fanous, Kai-How Farh, Martilias S Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B Freimer, Joseph I Friedman, Andreas J Forstner, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S Gershon, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I Goldstein, Jacob Gratten, Lieuwe de Haan, Marian L Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M Hartmann, Frans A Henskens, Stefan Herms, Joel N Hirschhorn, Per Hoffmann, Andrea Hofman, Hailiang Huang, Masashi Ikeda, Inge Joa, Anna K Kähler, René S Kahn, Luba Kalaydjieva, Juha Karjalainen, David Kavanagh, Matthew C Keller, Brian J Kelly, James L Kennedy, Yunjung Kim, James A Knowles, Bettina Konte, Claudine Laurent, Phil Lee, S Hong Lee, Sophie E Legge, Bernard Lerer, Deborah L Levy, Kung-Yee Liang, Jeffrey Lieberman, Jouko Lönnqvist, Carmel M Loughland, Patrik K E Magnusson, Brion S Maher, Wolfgang Maier, Jacques Mallet, Manuel Mattheisen, Morten Mattingsdal, Robert W McCarley, Colm McDonald, Andrew M McIntosh, Sandra Meier, Carin J Meijer, Ingrid Melle, Raquelle I Mesholam-Gately, Andres Metspalu, Patricia T Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W Morris, Bertram Müller-Myhsok, Kieran C Murphy, Robin M Murray, Inez Myin-Germeys, Igor Nenadic, Deborah A Nertney, Gerald Nestadt, Kristin K Nicodemus, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, Sang-Yun Oh, Ann Olincy, Line Olsen, F Anthony O'Neill, Jim Van Os, Christos Pantelis, George N Papadimitriou, Elena Parkhomenko, Michele T Pato, Tiina Paunio, , Diana O Perkins, Tune H Pers, Olli Pietiläinen, Jonathan Pimm, Andrew J Pocklington, John Powell, Alkes Price, Ann E Pulver, Shaun M Purcell, Digby Quested, Henrik B Rasmussen, Abraham Reichenberg, Mark A Reimers, Alexander L Richards, Joshua L Roffman, Panos Roussos, Douglas M Ruderfer, Veikko Salomaa, Alan R Sanders, Adam Savitz, Ulrich Schall, Thomas G Schulze, Sibylle G Schwab, Edward M Scolnick, Rodney J Scott, Larry J Seidman, Jianxin Shi, Jeremy M Silverman, Jordan W Smoller, Erik Söderman, Chris C A Spencer, Eli A Stahl, Eric Strengman, Jana Strohmaier, T Scott Stroup, Jaana Suvisaari, Dragan M Svrakic, Jin P Szatkiewicz, Srinivas Thirumalai, Paul A Tooney, Juha Veijola, Peter M Visscher, John Waddington, Dermot Walsh, Bradley T Webb, Mark Weiser, Dieter B Wildenauer, Nigel M Williams, Stephanie Williams, Stephanie H Witt, Aaron R Wolen, Brandon K Wormley, Naomi R Wray, Jing Qin Wu, Clement C Zai, Rolf Adolfsson, Ole A Andreassen, Douglas H R Blackwood, Elvira Bramon, Joseph D Buxbaum, Sven Cichon, David A Collier, Aiden Corvin, Mark J Daly, Ariel Darvasi, Enrico Domenici, Tõnu Esko, Pablo V Gejman, Michael Gill, Hugh Gurling, Christina M Hultman, Nakao Iwata, Assen V Jablensky, Erik G Jönsson, Kenneth S Kendler, George Kirov, Jo Knight, Douglas F Levinson, Qingqin S Li, Steven A McCarroll, Andrew McQuillin, Jennifer L Moran, Bryan J Mowry, Markus M Nöthen, Roel A Ophoff, Michael J Owen, Aarno Palotie, Carlos N Pato, Tracey L Petryshen, Danielle Posthuma, Marcella Rietschel, Brien P Riley, Dan Rujescu, Pamela Sklar, David St Clair, James T R Walters, Thomas Werge, Patrick F Sullivan, Michael C O'Donovan, Stephen W Scherer, Benjamin M Neale, Jonathan Sebat,
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2016

It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia. One way to estimate the effects of inbreeding is to examine the association between disease diagnosis and genome-wide autozygosity estimated using runs of homozygosity (ROH) in genome-wide single nucleotide polymorphism arrays. Using data for schizophrenia from the Psychiatric Genomics Consortium (n = 21,868), Keller et al.

View Full Text PDF Listings View primary source full text article PDFs.

Feb
2017

Stress increases the risk for major depressive disorder (MDD), overeating, and alcohol dependence (AD). The neuropeptide Y system is one of the best-known modulators of the stress response, and some of its effects are mediated through the neuropeptide Y receptor Y2 (NPY2R). The functional NPY2R variant rs6857715 (C-599T) has been implicated in both obesity and AD, but with opposing alleles.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Atrial natriuretic peptide (ANP) receptors are highly expressed in the amygdala, caudate and hypothalamus. GATA4 gene encodes a transcription factor of ANP associated with the pathophysiology of alcohol dependence. We have previously demonstrated that the GATA4 single nucleotide polymorphism (SNP) rs13273672 revealed stronger alcohol-specific amygdala activation associated with lowered relapse risk to heavy drinking at 90 days in the AA-homozygotes.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2016

Common variants in the gene GATA binding protein 4 (GATA4) show association with alcohol dependence (AD). The aim of this study was to identify rare variants in GATA4 in order to elucidate the role of this gene in AD susceptibility. Identification of rare variants may provide a more complete picture of the allelic architecture at this risk locus.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Measuring cortisol in hair is a promising method to assess long-term alterations of the biological stress response system, and hair cortisol concentrations (HCC) may be altered in psychiatric disorders and in subjects suffering from chronic stress. However, the pattern of associations between HCC, chronic stress and mental health require clarification. Our exploratory study: (1) assessed the association between HCC and perceived stress, symptoms of depression and neuroticism, and the trait extraversion (as a control variable); and (2) made use of the twin design to estimate the genetic and environmental covariance between the variables of interest.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2016

Bipolar disorder (BD) and schizophrenia (SCZ) are psychiatric disorders with shared and distinct clinical and genetic features. In both disorders, stress increases the risk for onset or relapse and dysregulation of the hypothalamus-pituitary-adrenal (HPA) axis has been reported. The latter is frequently investigated by measuring changes in the hormonal end product of the HPA axis, i.

View Full Text PDF Listings View primary source full text article PDFs.

Mar
2016

Hyper-IgE syndromes (HIES) are primary immunodeficiency disorders characterized by elevated serum IgE, eczema, and recurrent infections. Despite the availability of confirmatory molecular diagnosis of several distinct HIES entities, the differentiation of HIES particularly from severe forms of atopic dermatitis remains a challenge. The two most common forms of HIES are caused by mutations in the genes STAT3 and DOCK8.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2015

Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independent European cohorts (1,148 cases and 922 controls). We identified variants in the MBOAT7 (P = 1.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2015

Sex is a powerful modulator of disease susceptibility, course and outcome. The gene CACNA1C is among the best replicated vulnerability genes of bipolar disorder and schizophrenia. The aim of the present study was to investigate whether sex and a variant in CACNA1C (rs10774035 as a proxy for the well-acknowledged risk variant rs1006737) influence psychosocial adaptation in a large German patient sample with schizophrenia-spectrum (n=297) and bipolar (n=516) disorders.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2015

Most, but not all, limb amputees develop phantom limb pain (PLP) or residual limb pain (RLP), and large interindividual differences in pain intensity and course are apparent. The present cross-sectional study of 122 double amputees investigated the possible role of genetic factors in PLP and RLP, assuming that strong individual predisposition results in high intraindividual concordance in pain phenotype. Intraindividual concordance was observed in 116 (95%) patients for development of PLP and in 110 patients (90%) for development of RLP.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Research has demonstrated an association between exposure to early life stress and an increased risk of psychiatric disorders in later life, in particular depression. However, the mechanism through which early life stress contributes to disease development remains unclear. Previous studies have reported an association between early life stress and altered methylation of the serotonin transporter gene (SLC6A4), a key candidate gene for several psychiatric disorders.

View Full Text PDF Listings View primary source full text article PDFs.

Mar
2016

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts.

Behav Genet 2016 Mar 21;46(2):151-69. Epub 2015 Sep 21.
Tae-Hwi Schwantes-An, Juan Zhang, Li-Shiun Chen, Sarah M Hartz, Robert C Culverhouse, Xiangning Chen, Hilary Coon, Josef Frank, Helen M Kamens, Bettina Konte, Leena Kovanen, Antti Latvala, Lisa N Legrand, Brion S Maher, Whitney E Melroy, Elliot C Nelson, Mark W Reid, Jason D Robinson, Pei-Hong Shen, Bao-Zhu Yang, Judy A Andrews, Paul Aveyard, Olga Beltcheva, Sandra A Brown, Dale S Cannon, Sven Cichon, Robin P Corley, Norbert Dahmen, Louisa Degenhardt, Tatiana Foroud, Wolfgang Gaebel, Ina Giegling, Stephen J Glatt, Richard A Grucza, Jill Hardin, Annette M Hartmann, Andrew C Heath, Stefan Herms, Colin A Hodgkinson, Per Hoffmann, Hyman Hops, David Huizinga, Marcus Ising, Eric O Johnson, Elaine Johnstone, Radka P Kaneva, Kenneth S Kendler, Falk Kiefer, Henry R Kranzler, Ken S Krauter, Orna Levran, Susanne Lucae, Michael T Lynskey, Wolfgang Maier, Karl Mann, Nicholas G Martin, Manuel Mattheisen, Grant W Montgomery, Bertram Müller-Myhsok, Michael F Murphy, Michael C Neale, Momchil A Nikolov, Denise Nishita, Markus M Nöthen, John Nurnberger, Timo Partonen, Michele L Pergadia, Maureen Reynolds, Monika Ridinger, Richard J Rose, Noora Rouvinen-Lagerström, Norbert Scherbaum, Christine Schmäl, Michael Soyka, Michael C Stallings, Michael Steffens, Jens Treutlein, Ming Tsuang, Tamara L Wall, Norbert Wodarz, Vadim Yuferov, Peter Zill, Andrew W Bergen, Jingchun Chen, Paul M Cinciripini, Howard J Edenberg, Marissa A Ehringer, Robert E Ferrell, Joel Gelernter, David Goldman, John K Hewitt, Christian J Hopfer, William G Iacono, Jaakko Kaprio, Mary Jeanne Kreek, Ivo M Kremensky, Pamela A F Madden, Matt McGue, Marcus R Munafò, Robert A Philibert, Marcella Rietschel, Alec Roy, Dan Rujescu, Sirkku T Saarikoski, Gary E Swan, Alexandre A Todorov, Michael M Vanyukov, Robert B Weiss, Laura J Bierut, Nancy L Saccone
The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) in OPRM1 has been extensively studied, yet its role in addiction has remained unclear, with conflicting association findings. To resolve the question of what effect, if any, rs1799971 has on substance dependence risk, we conducted collaborative meta-analyses of 25 datasets with over 28,000 European-ancestry subjects.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2015

The aim of the current study was to determine genotype effects of four single nucleotide polymorphisms (SNPs) in the genes of the N-Methyl-d-aspartate receptor (GRIN1, GRIN2A, GRIN2C) and kainate receptor (GRIK1), which have been previously associated with alcoholism, on behavior, neural cue-reactivity and drinking outcome. Eighty-six abstinent alcohol dependent patients were recruited from an in-patient setting. Neuropsychological tests, genotyping and functional magnetic resonance imaging (fMRI) were used to study genotype effects.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2015

The endogenous opioid system is involved in the pathophysiology of alcohol-use disorders. Genetic variants of the opioid system alter neural and behavioral responses to alcohol. In particular, a single nucleotide polymorphism rs1799971 (A118G) in the mu-opioid receptor gene (OPRM1) is suggested to modulate alcohol-related phenotypes and neural response in the mesocorticolimbic dopaminergic system.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2015

Epigenetic modulations are a hypothesized link between environmental factors and the development of psychiatric disorders. Research has suggested that patients with depression or bipolar disorder exhibit higher methylation levels in the glucocorticoid receptor gene NR3C1. We aimed to investigate whether NR3C1 methylation changes are similarly associated with externalizing disorders such as aggressive behavior and conduct disorder.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2015

Functional outcome has recently become of interest for cross-diagnostic subphenotype approaches in psychiatric genetics. Therefore, it is crucial to know about clinical, demographic and psychosocial variables that correlate with long-term functioning. Unfortunately, there is a lack of studies that directly compare the importance of correlates for functional outcome between different disorders.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2014

The objective of this study was to investigate the hypothesis that borderline personality disorder (BPD) and bipolar disorder (BD) share genetic variation through analysis of known genetic risk factors for BD in a well-characterized BPD case-control cohort. Genotyping of five genome-wide significant variants identified for BD (in CACNA1C, ANK3, and ODZ4) was performed in 673 BPD cases and 748 controls. A nominally significant association with BPD was found for rs1006737 in CACNA1C (P=0.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2015

Genetic factors have as large role as environmental factors in the etiology of alcohol dependence (AD). Although genome-wide association studies (GWAS) enable systematic searches for loci not hitherto implicated in the etiology of AD, many true findings may be missed owing to correction for multiple testing. The aim of the present study was to circumvent this limitation by searching for biological system-level differences, and then following up these findings in humans and animals.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2014

In the present study, an integrated hierarchical approach was applied to: (1) identify pathways associated with susceptibility to schizophrenia; (2) detect genes that may be potentially affected in these pathways since they contain an associated polymorphism; and (3) annotate the functional consequences of such single-nucleotide polymorphisms (SNPs) in the affected genes or their regulatory regions. The Global Test was applied to detect schizophrenia-associated pathways using discovery and replication datasets comprising 5,040 and 5,082 individuals of European ancestry, respectively. Information concerning functional gene-sets was retrieved from the Kyoto Encyclopedia of Genes and Genomes, Gene Ontology, and the Molecular Signatures Database.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2014

We have previously shown that urban upbringing and city living were associated with stress-induced activity in the amygdala and the perigenual anterior cingulate cortex (pACC). This finding might link the epidemiological risk factor "urbanicity" to neurobiological mechanisms of psychiatric disorders. However, given the heritability of stress-related phenotypes, it appears likely that genetic factors can modulate the effect of urbanicity on social stress processing.

View Full Text PDF Listings View primary source full text article PDFs.

May
2014

Two genome-wide association studies recently showed alcohol dependence to be associated with a single-nucleotide polymorphism (rs13273672) located on a gene (GATA4) that encodes a transcription factor of atrial natriuretic peptide (ANP). A growing body of evidence suggests that ANP might be involved in the symptomology of alcohol dependence. This study examined whether reactivity to alcohol cues in the ANP target region amygdala, a key area implicated in addictive behavior, differs depending on the GATA4 genotype of a patient.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2013

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.

Genet Epidemiol 2013 Dec 1;37(8):846-59. Epub 2013 Nov 1.
Sarah H Stephens, Sarah M Hartz, Nicole R Hoft, Nancy L Saccone, Robin C Corley, John K Hewitt, Christian J Hopfer, Naomi Breslau, Hilary Coon, Xiangning Chen, Francesca Ducci, Nicole Dueker, Nora Franceschini, Josef Frank, Younghun Han, Nadia N Hansel, Chenhui Jiang, Tellervo Korhonen, Penelope A Lind, Jason Liu, Leo-Pekka Lyytikäinen, Martha Michel, John R Shaffer, Susan E Short, Juzhong Sun, Alexander Teumer, John R Thompson, Nicole Vogelzangs, Jacqueline M Vink, Angela Wenzlaff, William Wheeler, Bao-Zhu Yang, Steven H Aggen, Anthony J Balmforth, Sebastian E Baumeister, Terri H Beaty, Daniel J Benjamin, Andrew W Bergen, Ulla Broms, David Cesarini, Nilanjan Chatterjee, Jingchun Chen, Yu-Ching Cheng, Sven Cichon, David Couper, Francesco Cucca, Danielle Dick, Tatiana Foroud, Helena Furberg, Ina Giegling, Nathan A Gillespie, Fangyi Gu, Alistair S Hall, Jenni Hällfors, Shizhong Han, Annette M Hartmann, Kauko Heikkilä, Ian B Hickie, Jouke Jan Hottenga, Pekka Jousilahti, Marika Kaakinen, Mika Kähönen, Philipp D Koellinger, Stephen Kittner, Bettina Konte, Maria-Teresa Landi, Tiina Laatikainen, Mark Leppert, Steven M Levy, Rasika A Mathias, Daniel W McNeil, Sarah E Medland, Grant W Montgomery, Tanda Murray, Matthias Nauck, Kari E North, Peter D Paré, Michele Pergadia, Ingo Ruczinski, Veikko Salomaa, Jorma Viikari, Gonneke Willemsen, Kathleen C Barnes, Eric Boerwinkle, Dorret I Boomsma, Neil Caporaso, Howard J Edenberg, Clyde Francks, Joel Gelernter, Hans Jörgen Grabe, Hyman Hops, Marjo-Riitta Jarvelin, Magnus Johannesson, Kenneth S Kendler, Terho Lehtimäki, Patrik K E Magnusson, Mary L Marazita, Jonathan Marchini, Braxton D Mitchell, Markus M Nöthen, Brenda W Penninx, Olli Raitakari, Marcella Rietschel, Dan Rujescu, Nilesh J Samani, Ann G Schwartz, Sanjay Shete, Margaret Spitz, Gary E Swan, Henry Völzke, Juha Veijola, Qingyi Wei, Chris Amos, Dale S Cannon, Richard Grucza, Dorothy Hatsukami, Andrew Heath, Eric O Johnson, Jaakko Kaprio, Pamela Madden, Nicholas G Martin, Victoria L Stevens, Robert B Weiss, Peter Kraft, Laura J Bierut, Marissa A Ehringer
Neuronal nicotinic acetylcholine receptor (nAChR) genes (CHRNA5/CHRNA3/CHRNB4) have been reproducibly associated with nicotine dependence, smoking behaviors, and lung cancer risk. Of the few reports that have focused on early smoking behaviors, association results have been mixed. This meta-analysis examines early smoking phenotypes and SNPs in the gene cluster to determine: (1) whether the most robust association signal in this region (rs16969968) for other smoking behaviors is also associated with early behaviors, and/or (2) if additional statistically independent signals are important in early smoking.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2013

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.
, S Hong Lee, Stephan Ripke, Benjamin M Neale, Stephen V Faraone, Shaun M Purcell, Roy H Perlis, Bryan J Mowry, Anita Thapar, Michael E Goddard, John S Witte, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A Andreassen, Adebayo Anjorin, Richard Anney, Verneri Anttila, Dan E Arking, Philip Asherson, Maria H Azevedo, Lena Backlund, Judith A Badner, Anthony J Bailey, Tobias Banaschewski, Jack D Barchas, Michael R Barnes, Thomas B Barrett, Nicholas Bass, Agatino Battaglia, Michael Bauer, Mònica Bayés, Frank Bellivier, Sarah E Bergen, Wade Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B Binder, Donald W Black, Douglas H R Blackwood, Cinnamon S Bloss, Michael Boehnke, Dorret I Boomsma, Gerome Breen, René Breuer, Richard Bruggeman, Paul Cormican, Nancy G Buccola, Jan K Buitelaar, William E Bunney, Joseph D Buxbaum, William F Byerley, Enda M Byrne, Sian Caesar, Wiepke Cahn, Rita M Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, C Robert Cloninger, David A Collier, Edwin H Cook, Hilary Coon, Bru Cormand, Aiden Corvin, William H Coryell, David W Craig, Ian W Craig, Jennifer Crosbie, Michael L Cuccaro, David Curtis, Darina Czamara, Susmita Datta, Geraldine Dawson, Richard Day, Eco J De Geus, Franziska Degenhardt, Srdjan Djurovic, Gary J Donohoe, Alysa E Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P Ebstein, Howard J Edenberg, Josephine Elia, Sean Ennis, Bruno Etain, Ayman Fanous, Anne E Farmer, I Nicol Ferrier, Matthew Flickinger, Eric Fombonne, Tatiana Foroud, Josef Frank, Barbara Franke, Christine Fraser, Robert Freedman, Nelson B Freimer, Christine M Freitag, Marion Friedl, Louise Frisén, Louise Gallagher, Pablo V Gejman, Lyudmila Georgieva, Elliot S Gershon, Daniel H Geschwind, Ina Giegling, Michael Gill, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Tiffany A Greenwood, Dorothy E Grice, Magdalena Gross, Detelina Grozeva, Weihua Guan, Hugh Gurling, Lieuwe De Haan, Jonathan L Haines, Hakon Hakonarson, Joachim Hallmayer, Steven P Hamilton, Marian L Hamshere, Thomas F Hansen, Annette M Hartmann, Martin Hautzinger, Andrew C Heath, Anjali K Henders, Stefan Herms, Ian B Hickie, Maria Hipolito, Susanne Hoefels, Peter A Holmans, Florian Holsboer, Witte J Hoogendijk, Jouke-Jan Hottenga, Christina M Hultman, Vanessa Hus, Andrés Ingason, Marcus Ising, Stéphane Jamain, Edward G Jones, Ian Jones, Lisa Jones, Jung-Ying Tzeng, Anna K Kähler, René S Kahn, Radhika Kandaswamy, Matthew C Keller, James L Kennedy, Elaine Kenny, Lindsey Kent, Yunjung Kim, George K Kirov, Sabine M Klauck, Lambertus Klei, James A Knowles, Martin A Kohli, Daniel L Koller, Bettina Konte, Ania Korszun, Lydia Krabbendam, Robert Krasucki, Jonna Kuntsi, Phoenix Kwan, Mikael Landén, Niklas Långström, Mark Lathrop, Jacob Lawrence, William B Lawson, Marion Leboyer, David H Ledbetter, Phil H Lee, Todd Lencz, Klaus-Peter Lesch, Douglas F Levinson, Cathryn M Lewis, Jun Li, Paul Lichtenstein, Jeffrey A Lieberman, Dan-Yu Lin, Don H Linszen, Chunyu Liu, Falk W Lohoff, Sandra K Loo, Catherine Lord, Jennifer K Lowe, Susanne Lucae, Donald J MacIntyre, Pamela A F Madden, Elena Maestrini, Patrik K E Magnusson, Pamela B Mahon, Wolfgang Maier, Anil K Malhotra, Shrikant M Mane, Christa L Martin, Nicholas G Martin, Manuel Mattheisen, Keith Matthews, Morten Mattingsdal, Steven A McCarroll, Kevin A McGhee, James J McGough, Patrick J McGrath, Peter McGuffin, Melvin G McInnis, Andrew McIntosh, Rebecca McKinney, Alan W McLean, Francis J McMahon, William M McMahon, Andrew McQuillin, Helena Medeiros, Sarah E Medland, Sandra Meier, Ingrid Melle, Fan Meng, Jobst Meyer, Christel M Middeldorp, Lefkos Middleton, Vihra Milanova, Ana Miranda, Anthony P Monaco, Grant W Montgomery, Jennifer L Moran, Daniel Moreno-De-Luca, Gunnar Morken, Derek W Morris, Eric M Morrow, Valentina Moskvina, Pierandrea Muglia, Thomas W Mühleisen, Walter J Muir, Bertram Müller-Myhsok, Michael Murtha, Richard M Myers, Inez Myin-Germeys, Michael C Neale, Stan F Nelson, Caroline M Nievergelt, Ivan Nikolov, Vishwajit Nimgaonkar, Willem A Nolen, Markus M Nöthen, John I Nurnberger, Evaristus A Nwulia, Dale R Nyholt, Colm O'Dushlaine, Robert D Oades, Ann Olincy, Guiomar Oliveira, Line Olsen, Roel A Ophoff, Urban Osby, Michael J Owen, Aarno Palotie, Jeremy R Parr, Andrew D Paterson, Carlos N Pato, Michele T Pato, Brenda W Penninx, Michele L Pergadia, Margaret A Pericak-Vance, Benjamin S Pickard, Jonathan Pimm, Joseph Piven, Danielle Posthuma, James B Potash, Fritz Poustka, Peter Propping, Vinay Puri, Digby J Quested, Emma M Quinn, Josep Antoni Ramos-Quiroga, Henrik B Rasmussen, Soumya Raychaudhuri, Karola Rehnström, Andreas Reif, Marta Ribasés, John P Rice, Marcella Rietschel, Kathryn Roeder, Herbert Roeyers, Lizzy Rossin, Aribert Rothenberger, Guy Rouleau, Douglas Ruderfer, Dan Rujescu, Alan R Sanders, Stephan J Sanders, Susan L Santangelo, Joseph A Sergeant, Russell Schachar, Martin Schalling, Alan F Schatzberg, William A Scheftner, Gerard D Schellenberg, Stephen W Scherer, Nicholas J Schork, Thomas G Schulze, Johannes Schumacher, Markus Schwarz, Edward Scolnick, Laura J Scott, Jianxin Shi, Paul D Shilling, Stanley I Shyn, Jeremy M Silverman, Susan L Slager, Susan L Smalley, Johannes H Smit, Erin N Smith, Edmund J S Sonuga-Barke, David St Clair, Matthew State, Michael Steffens, Hans-Christoph Steinhausen, John S Strauss, Jana Strohmaier, T Scott Stroup, James S Sutcliffe, Peter Szatmari, Szabocls Szelinger, Srinivasa Thirumalai, Robert C Thompson, Alexandre A Todorov, Federica Tozzi, Jens Treutlein, Manfred Uhr, Edwin J C G van den Oord, Gerard Van Grootheest, Jim Van Os, Astrid M Vicente, Veronica J Vieland, John B Vincent, Peter M Visscher, Christopher A Walsh, Thomas H Wassink, Stanley J Watson, Myrna M Weissman, Thomas Werge, Thomas F Wienker, Ellen M Wijsman, Gonneke Willemsen, Nigel Williams, A Jeremy Willsey, Stephanie H Witt, Wei Xu, Allan H Young, Timothy W Yu, Stanley Zammit, Peter P Zandi, Peng Zhang, Frans G Zitman, Sebastian Zöllner, Bernie Devlin, John R Kelsoe, Pamela Sklar, Mark J Daly, Michael C O'Donovan, Nicholas Craddock, Patrick F Sullivan, Jordan W Smoller, Kenneth S Kendler, Naomi R Wray,
Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD).

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2013

Previous studies have reported an association between shorter leukocyte telomere length and schizophrenia (SCZ). The aim of the present study was to replicate this finding in a large sample of SCZ patients (n=539) and population-based controls (n=519). In addition, the possible influence of SCZ severity on telomere length - as measured by age of onset, mode of onset, and course of the disorder - was investigated.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2013

The α-Ca(2+)/calmodulin-dependent protein kinase II (αCaMKII) is a crucial enzyme controlling plasticity in the brain. The autophosphorylation of αCaMKII works as a 'molecular memory' for a transient calcium activation, thereby accelerating learning. We investigated the role of αCaMKII autophosphorylation in the establishment of alcohol drinking as an addiction-related behavior in mice.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2012

Genome-wide association has been reported between the NCAN gene and bipolar disorder. The aims of this study were to characterize the clinical symptomatology most strongly influenced by NCAN and to explore the behavioral phenotype of Ncan knockout (Ncan(-/-)) mice.
Genotype/phenotype correlations were investigated in patients with bipolar disorder (N=641) and the genetically related disorders major depression (N=597) and schizophrenia (N=480).

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2012

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.

Arch Gen Psychiatry 2012 Aug;69(8):854-60
Sarah M Hartz, Susan E Short, Nancy L Saccone, Robert Culverhouse, LiShiun Chen, Tae-Hwi Schwantes-An, Hilary Coon, Younghun Han, Sarah H Stephens, Juzhong Sun, Xiangning Chen, Francesca Ducci, Nicole Dueker, Nora Franceschini, Josef Frank, Frank Geller, Daniel Gubjartsson, Nadia N Hansel, Chenhui Jiang, Kaisu Keskitalo-Vuokko, Zhen Liu, Leo-Pekka Lyytikäinen, Martha Michel, Rajesh Rawal, Albert Rosenberger, Paul Scheet, John R Shaffer, Alexander Teumer, John R Thompson, Jacqueline M Vink, Nicole Vogelzangs, Angela S Wenzlaff, William Wheeler, Xiangjun Xiao, Bao-Zhu Yang, Steven H Aggen, Anthony J Balmforth, Sebastian E Baumeister, Terri Beaty, Siiri Bennett, Andrew W Bergen, Heather A Boyd, Ulla Broms, Harry Campbell, Nilanjan Chatterjee, Jingchun Chen, Yu-Ching Cheng, Sven Cichon, David Couper, Francesco Cucca, Danielle M Dick, Tatiana Foroud, Helena Furberg, Ina Giegling, Fangyi Gu, Alistair S Hall, Jenni Hällfors, Shizhong Han, Annette M Hartmann, Caroline Hayward, Kauko Heikkilä, John K Hewitt, Jouke Jan Hottenga, Majken K Jensen, Pekka Jousilahti, Marika Kaakinen, Steven J Kittner, Bettina Konte, Tellervo Korhonen, Maria-Teresa Landi, Tiina Laatikainen, Mark Leppert, Steven M Levy, Rasika A Mathias, Daniel W McNeil, Sarah E Medland, Grant W Montgomery, Thomas Muley, Tanda Murray, Matthias Nauck, Kari North, Michele Pergadia, Ozren Polasek, Erin M Ramos, Samuli Ripatti, Angela Risch, Ingo Ruczinski, Igor Rudan, Veikko Salomaa, David Schlessinger, Unnur Styrkársdóttir, Antonio Terracciano, Manuela Uda, Gonneke Willemsen, Xifeng Wu, Goncalo Abecasis, Kathleen Barnes, Heike Bickeböller, Eric Boerwinkle, Dorret I Boomsma, Neil Caporaso, Jubao Duan, Howard J Edenberg, Clyde Francks, Pablo V Gejman, Joel Gelernter, Hans Jörgen Grabe, Hyman Hops, Marjo-Riitta Jarvelin, Jorma Viikari, Mika Kähönen, Kenneth S Kendler, Terho Lehtimäki, Douglas F Levinson, Mary L Marazita, Jonathan Marchini, Mads Melbye, Braxton D Mitchell, Jeffrey C Murray, Markus M Nöthen, Brenda W Penninx, Olli Raitakari, Marcella Rietschel, Dan Rujescu, Nilesh J Samani, Alan R Sanders, Ann G Schwartz, Sanjay Shete, Jianxin Shi, Margaret Spitz, Kari Stefansson, Gary E Swan, Thorgeir Thorgeirsson, Henry Völzke, Qingyi Wei, H-Erich Wichmann, Christopher I Amos, Naomi Breslau, Dale S Cannon, Marissa Ehringer, Richard Grucza, Dorothy Hatsukami, Andrew Heath, Eric O Johnson, Jaakko Kaprio, Pamela Madden, Nicholas G Martin, Victoria L Stevens, Jerry A Stitzel, Robert B Weiss, Peter Kraft, Laura J Bierut
Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968.
To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking.
Primary data.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2012

A large subgroup of schizophrenic patients develops obsessive-compulsive symptoms (OCS) during treatment with second-generation antipsychotics (SGA). A genetic risk factor for these secondary OCS was recently described in the gene SLC1A1 encoding the neuronal glutamate transporter excitatory amino acid carrier 1. The aim of this study was to replicate these findings in a European sample.

View Full Text PDF Listings View primary source full text article PDFs.

Mar
2014

Chronic alcohol abuse and dependence are associated with dysfunctional dopaminergic neurotransmission in mesocorticolimbic circuits. Genetic and environmental factors have been shown to modulate susceptibility to alcohol dependence, and both may act through epigenetic mechanisms that can modulate gene expression, e.g.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2013

A mega-analysis of genome-wide association studies for major depressive disorder.

Mol Psychiatry 2013 Apr 3;18(4):497-511. Epub 2012 Apr 3.
, Stephan Ripke, Naomi R Wray, Cathryn M Lewis, Steven P Hamilton, Myrna M Weissman, Gerome Breen, Enda M Byrne, Douglas H R Blackwood, Dorret I Boomsma, Sven Cichon, Andrew C Heath, Florian Holsboer, Susanne Lucae, Pamela A F Madden, Nicholas G Martin, Peter McGuffin, Pierandrea Muglia, Markus M Noethen, Brenda P Penninx, Michele L Pergadia, James B Potash, Marcella Rietschel, Danyu Lin, Bertram Müller-Myhsok, Jianxin Shi, Stacy Steinberg, Hans J Grabe, Paul Lichtenstein, Patrik Magnusson, Roy H Perlis, Martin Preisig, Jordan W Smoller, Kari Stefansson, Rudolf Uher, Zoltan Kutalik, Katherine E Tansey, Alexander Teumer, Alexander Viktorin, Michael R Barnes, Thomas Bettecken, Elisabeth B Binder, René Breuer, Victor M Castro, Susanne E Churchill, William H Coryell, Nick Craddock, Ian W Craig, Darina Czamara, Eco J De Geus, Franziska Degenhardt, Anne E Farmer, Maurizio Fava, Josef Frank, Vivian S Gainer, Patience J Gallagher, Scott D Gordon, Sergey Goryachev, Magdalena Gross, Michel Guipponi, Anjali K Henders, Stefan Herms, Ian B Hickie, Susanne Hoefels, Witte Hoogendijk, Jouke Jan Hottenga, Dan V Iosifescu, Marcus Ising, Ian Jones, Lisa Jones, Tzeng Jung-Ying, James A Knowles, Isaac S Kohane, Martin A Kohli, Ania Korszun, Mikael Landen, William B Lawson, Glyn Lewis, Donald Macintyre, Wolfgang Maier, Manuel Mattheisen, Patrick J McGrath, Andrew McIntosh, Alan McLean, Christel M Middeldorp, Lefkos Middleton, Grant M Montgomery, Shawn N Murphy, Matthias Nauck, Willem A Nolen, Dale R Nyholt, Michael O'Donovan, Högni Oskarsson, Nancy Pedersen, William A Scheftner, Andrea Schulz, Thomas G Schulze, Stanley I Shyn, Engilbert Sigurdsson, Susan L Slager, Johannes H Smit, Hreinn Stefansson, Michael Steffens, Thorgeir Thorgeirsson, Federica Tozzi, Jens Treutlein, Manfred Uhr, Edwin J C G van den Oord, Gerard Van Grootheest, Henry Völzke, Jeffrey B Weilburg, Gonneke Willemsen, Frans G Zitman, Benjamin Neale, Mark Daly, Douglas F Levinson, Patrick F Sullivan
Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have met with limited success. We sought to increase statistical power to detect disease loci by conducting a GWAS mega-analysis for MDD. In the MDD discovery phase, we analyzed more than 1.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2012

Alcohol dependence (AD) is an important contributory factor to the global burden of disease. The etiology of AD involves both environmental and genetic factors, and the disorder has a heritability of around 50%. The aim of the present study was to identify susceptibility genes for AD by performing a genome-wide association study (GWAS).

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2011

Schizophrenia is associated with increased risk of type II diabetes and metabolic disorders. However, it is unclear whether this comorbidity reflects shared genetic risk factors, at-risk lifestyle, or side effects of antipsychotic medication.
Eleven known risk variants of type II diabetes were genotyped in patients with schizophrenia in a sample of 410 Danish patients, each matched with two healthy control subjects on sex, birth year, and month.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2010

Genome-wide association studies are a powerful tool for unravelling the genetic background of complex disorders such as major depression.
We conducted a genome-wide association study of 604 patients with major depression and 1364 population based control subjects. The top hundred findings were followed up in a replication sample of 409 patients and 541 control subjects.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2010

The aim of the present study was to investigate possible associations between schizophrenia and 13 SNP markers in COMT. No association was observed in 631 cases, 207 nuclear families, and 776 controls. A cognitive performance phenotype (Trail Marking Test) was available for a subgroup of the patients.

View Full Text PDF Listings View primary source full text article PDFs.

Back to top