Author: "George McMahon" / Topic: biology - Searchworks@Jio Institute Digital Library Search Results

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1. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author: Kai-How Farh, Caleb Webber, Albert Hofman, George McMahon, Nicholas G. Martin, Paul M. Ridker, Lynn Cherkas, Mart Kals, Dorret I. Boomsma, George Davey Smith, Verneri Anttila, Tune H. Pers, Bertram Müller-Myhsok, Ville Artto, Benjamin M. Neale, Ester Cuenca-León, Anine H. Stam, Christopher Sivert Nielsen, Hieab H.H. Adams, Guntram Borck, Andres Metspalu, Maria Gudlaug Hrafnsdottir, Martin Dichgans, Reedik Mägi, Hailiang Huang, Daniel I. Chasman, Elizabeth Loehrer, John-Anker Zwart, Thomas Meitinger, Markus Färkkilä, Cornelia M. van Duijn, Arn M. J. M. van den Maagdenberg, Evie Stergiakouli, Johan G. Eriksson, Kauko Heikkilä, Hreinn Stefansson, Nicholas A. Furlotte, Minna Männikkö, Nicholas Eriksson, Jaakko Kaprio, David P. Strachan, Juho Wedenoja, Zameel M. Cader, Scott G. Gordon, Brenda W.J.H. Penninx, Linda M. Pedersen, Olli T. Raitakari, Phil Lee, André G. Uitterlinden, Ann-Louise Esserlind, Tobias Kurth, Arpo Aromaa, Priit Palta, Jes Olesen, Audun Stubhaug, Antti-Pekka Sarin, Andres Ingason, Stefan Schreiber, Salli Vepsäläinen, Hartmut Göbel, Kalle Pärn, Jouke-Jan Hottenga, Kari Stefansson, Bendik S. Winsvold, Markku Koiranen, Tim D. Spector, Evelin Mihailov, Mikko Muona, Marjo-Riitta Järvelin, Cynthia Sandor, Anne Francke Christensen, Lude Franke, Grant W. Montgomery, Tobias Freilinger, Caroline Ran, Thomas Werge, Maija Wessman, David A. Hinds, Lannie Ligthart, Terho Lehtimäki, Lili Milani, Mari A. Kaunisto, Lydia Quaye, Andrea Carmine Belin, Eija Hamalainen, M. Arfan Ikram, Veikko Salomaa, Mark J. Daly, Dale R. Nyholt, Pamela A. F. Madden, Andrew C. Heath, Tõnu Esko, Rainer Malik, Gisela M. Terwindt, Mitja I. Kurki, Aarno Palotie, Thomas Hansen, Padhraig Gormley, Michel D. Ferrari, Susan M. Ring, Julie E. Buring, Christian Kubisch, Mikko Kallela, Andrea Byrnes, Stacy Steinberg, Jie Huang, Markus Schürks, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, EMGO - Mental health, Internal Medicine, Epidemiology, Neurology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, Biological Psychology, and Complex Trait Genetics
Subjects: 0301 basic medicine, Netherlands Twin Register (NTR), SMOOTH-MUSCLE-CELLS, Medizin, Genome-wide association study, Disease, Bioinformatics, Genome-wide association studies, 0302 clinical medicine, Familial hemiplegic migraine, GENE-EXPRESSION, Genetics, Genetics & Heredity, FAMILIAL HEMIPLEGIC MIGRAINE, International Headache Genetics Consortium, SINGLE-NUCLEOTIDE POLYMORPHISMS, 11 Medical And Health Sciences, Genomics, SDG 10 - Reduced Inequalities, 3. Good health, Migranya, Cortical spreading depression, SPREADING DEPRESSION, Life Sciences & Biomedicine, Gens, Genetic Markers, Migraine Disorders, Locus (genetics), Single-nucleotide polymorphism, Biology, GENOTYPE IMPUTATION, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, SYSTEMATIC ANALYSIS, Humans, Genetic Predisposition to Disease, Vascular Diseases, GENOME-WIDE ASSOCIATION, Migraine, Science & Technology, Case-control study, Muscle, Smooth, 06 Biological Sciences, medicine.disease, 030104 developmental biology, Genes, MYOCARDIAL-INFARCTION, Genetic Loci, Case-Control Studies, RECEPTOR-RELATED PROTEIN-1, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
Abstract: Migraine is a debilitating neurological disorder affecting around one in seven people worldwide, but its molecular mechanisms remain poorly understood. There is some debate about whether migraine is a disease of vascular dysfunction or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association ( GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we carried out a genetic study of migraine on 59,674 affected subjects and 316,078 controls from 22 GWA studies. We identified 44 independent single-nucleotide polymorphisms ( SNPs) significantly associated with migraine risk ( P
Published: 2020

2. Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

Author: Fumiaki Imamura, George Davey Smith, Chanwook Lee, Nicholas J. Wareham, M. Arfan Ikram, George McMahon, Aysu Okbay, Frank J. A. van Rooij, Peter Bowers, Carson C. Chow, Patrick Turley, Ronald de Vlaming, Jian'an Luan, Oscar H. Franco, Trudy Voortman, Daniel J. Benjamin, André G. Uitterlinden, Casper A.P. Burik, Nita G. Forouhi, K. Paige Harden, Pauline M Emmett, Cornelius A. Rietveld, Juan R. González, Bruce H. R. Wolffenbuttel, Philipp Koellinger, Mark Alan Fontana, James J. Lee, David Cesarini, Harold Snieder, Kim Valeska Emilie Braun, Emma L Anderson, Jana V. van Vliet-Ostaptchouk, Peter J. van der Most, Richard Karlsson Linnér, Susan M. Ring, Claudia Langenberg, Tonũ Esko, Fernando Rivadeneira, Kaitlin H Wade, Jessica C. Kiefte-de Jong, Taulant Muka, Mohsen Ghanbari, S. Fleur W. Meddens, Linnér, Richard Karlsson [0000-0001-7839-2858], Okbay, Aysu [0000-0002-5170-7781], Rietveld, Cornelius A [0000-0003-4053-1861], Ghanbari, Mohsen [0000-0002-9476-7143], Imamura, Fumiaki [0000-0002-6841-8396], van der Most, Peter J [0000-0001-8450-3518], Voortman, Trudy [0000-0003-2830-6813], Wade, Kaitlin H [0000-0003-3362-6280], Braun, Kim VE [0000-0001-8738-4139], Gonzalez, Juan R [0000-0003-3267-2146], Kiefte-de Jong, Jessica C [0000-0002-8136-0918], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Ring, Susan [0000-0003-3103-9330], Rivadeneira, Fernando [0000-0001-9435-9441], Snieder, Harold [0000-0003-1949-2298], van Rooij, Frank JA [0000-0002-8600-9852], Smith, George Davey [0000-0002-1407-8314], Forouhi, Nita G [0000-0002-5041-248X], Ikram, M Arfan [0000-0003-0372-8585], Uitterlinden, Andre G [0000-0002-7276-3387], van Vliet-Ostaptchouk, Jana V [0000-0002-7943-3153], Lee, James J [0000-0001-6547-5128], Benjamin, Daniel J [0000-0002-2642-5416], Apollo - University of Cambridge Repository, Rietveld, Cornelius A. [0000-0003-4053-1861], van der Most, Peter J. [0000-0001-8450-3518], Wade, Kaitlin H. [0000-0003-3362-6280], Braun, Kim V. E. [0000-0001-8738-4139], Gonzalez, Juan R. [0000-0003-3267-2146], Kiefte-de Jong, Jessica C. [0000-0002-8136-0918], Luan, Jian’an [0000-0003-3137-6337], van Rooij, Frank J. A. [0000-0002-8600-9852], Forouhi, Nita G. [0000-0002-5041-248X], Ikram, M. Arfan [0000-0003-0372-8585], Uitterlinden, Andre G. [0000-0002-7276-3387], van Vliet-Ostaptchouk, Jana V. [0000-0002-7943-3153], Lee, James J. [0000-0001-6547-5128], Benjamin, Daniel J. [0000-0002-2642-5416], Applied Economics, Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Economics, and Amsterdam Neuroscience - Complex Trait Genetics
Subjects: 0301 basic medicine, BETA-KLOTHO, PROTEIN-INTAKE, LD SCORE REGRESSION, Diseases, Genome-wide association study, Type 2 diabetes, METABOLIC-ACTIVITY, OBESITY RISK, Cardiovascular, Medical and Health Sciences, CHAIN AMINO-ACIDS, Body Mass Index, 631/208, 0302 clinical medicine, 2.1 Biological and endogenous factors, WIDE ASSOCIATION, SOCIOECONOMIC-STATUS, 030212 general & internal medicine, Aetiology, Psychiatry, 2. Zero hunger, Genetics, 692/699, Diabetes, article, Genomics, Biological Sciences, SDG 11 - Sustainable Cities and Communities, 3. Good health, Psychiatry and Mental health, SDG 1 - No Poverty, Type 2, WEIGHT-LOSS, Single-nucleotide polymorphism, Biology, 23andMe Research Team, Genetic correlation, 03 medical and health sciences, Cellular and Molecular Neuroscience, Lifelines Cohort Study, Behavioral and Social Science, Diabetes Mellitus, medicine, Humans, Obesity, Molecular Biology, Life Style, Metabolic and endocrine, Nutrition, Genetic association, EPIC- InterAct Consortium, Prevention, Human Genome, Psychology and Cognitive Sciences, medicine.disease, Genetic architecture, Diet, BODY-MASS INDEX, 030104 developmental biology, Diabetes Mellitus, Type 2, Body mass index, Genome-Wide Association Study
Abstract: We conducted genome-wide association studies (GWAS) of relative intake from the macronutrients fat, protein, carbohydrates, and sugar in over 235,000 individuals of European ancestries. We identified 21 unique, approximately independent lead SNPs. Fourteen lead SNPs are uniquely associated with one macronutrient at genome-wide significance (P < 5 × 10-8), while five of the 21 lead SNPs reach suggestive significance (P < 1 × 10-5) for at least one other macronutrient. While the phenotypes are genetically correlated, each phenotype carries a partially unique genetic architecture. Relative protein intake exhibits the strongest relationships with poor health, including positive genetic associations with obesity, type 2 diabetes, and heart disease (rg ≈ 0.15-0.5). In contrast, relative carbohydrate and sugar intake have negative genetic correlations with waist circumference, waist-hip ratio, and neighborhood deprivation (|rg| ≈ 0.1-0.3) and positive genetic correlations with physical activity (rg ≈ 0.1 and 0.2). Relative fat intake has no consistent pattern of genetic correlations with poor health but has a negative genetic correlation with educational attainment (rg ≈-0.1). Although our analyses do not allow us to draw causal conclusions, we find no evidence of negative health consequences associated with relative carbohydrate, sugar, or fat intake. However, our results are consistent with the hypothesis that relative protein intake plays a role in the etiology of metabolic dysfunction. This research was carried out under the auspices of the Social Science Genetic Association Consortium (SSGAC, https://www.thessgac.org/). The research has also been conducted using the UK Biobank Resource under Application Number 11425. The study was supported by funding from the Ragnar Söderberg Foundation (E9/11 and E42/15), the Swedish Research Council (421-2013-1061), The Jan Wallander and Tom Hedelius Foundation, an ERC Consolidator Grant to Philipp Koellinger (647648 EdGe), the Pershing Square Fund of the Foundations of Human Behavior, The Open Philanthropy Project (2016-152872, 010623-00001), and the NIA/NIH through grants P01-AG005842, P01-AG005842-20S2, P30-AG012810, and T32-AG000186-23 to NBER, and R01-AG042568-02 and R56-AG042568-04 to the University of Southern California. CCC was supported by the Intramural Research Program of the NIH/NIDDK and thanks Kevin Hall for informative discussions. PME was funded by Nestlé Nutrition. We thank the DietGen and CHARGE consortia for sharing diet-composition GWAS summary statistics, and we thank 23andMe, Inc., for sharing physical activity GWAS summary statistics. A full list of acknowledgements is provided in Supplementary Information 13.
Published: 2020

3. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Author: Seyhan Yazar, M. Arfan Ikram, Gonneke Willemsen, Maria Pina Concas, Manfred Kayser, Tim D. Spector, David M. Evans, Nicholas G. Martin, David L. Duffy, Changqing Zeng, Bochao D. Lin, Daniela Toniolo, Pirro G. Hysi, Gibran Hemani, Jouke-Jan Hottenga, Paolo Gasparini, Gu Zhu, Sarah E. Medland, Cornelia M. van Duijn, Mario Falchi, Marco Brumat, Nicholas A. Furlotte, Alessia Visconti, André G. Uitterlinden, Cinzia Sala, George McMahon, David A. Hinds, Dorret I. Boomsma, Ilaria Gandin, Ana M. Valdes, Dragana Vuckovic, Giorgia Girotto, Veronique Bataille, Massimiliano Cocca, David A. Mackey, Susan M. Ring, Fan Liu, Tamar Nijsten, Scott D. Gordon, Yan Chen, George Davey Smith, Merel A. Hamer, Antonietta Robino, Alex W. Hewitt, Genetic Identification, Erasmus MC other, Epidemiology, Internal Medicine, Dermatology, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Methodology, Hysi, Pirro G., Valdes, A. M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, Mcmahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex W., Chen, Yan, Zeng, Changqing, Uitterlinden, Andre G., Ikram, M. Arfan, Hamer, Merel A., van Duijn, Cornelia M., Nijsten, Tamar, Mackey, David A., Falchi, Mario, Boomsma, Dorret I., Martin, Nicholas G., Hinds, David A., Kayser, Manfred, and Spector, Timothy D.
Subjects: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Multifactorial Inheritance, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, White People, 03 medical and health sciences, 0302 clinical medicine, Black hair, Genetic variation, Genotype, Genetics, Eye color, otorhinolaryngologic diseases, Journal Article, Humans, Hair Color, Aged, Chromosomes, Human, X, Autosome, integumentary system, Heritability, Middle Aged, 030104 developmental biology, Phenotype, Evolutionary biology, Genetic Loci, Female, sense organs, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.
Published: 2018

4. Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women

Author: Nicholas J. Timpson, Ville Karhunen, Matthew Lee, David A. Hughes, Kaitlin H Wade, George Davey Smith, Marjo-Riitta Järvelin, George McMahon, Debbie A Lawlor, Laura J Corbin, and UNIVERSITY OF OULU
Subjects: AcademicSubjects/SCI01140, endocrine system diseases, Physiology, Genome-wide association study, Body Mass Index, 0302 clinical medicine, Pregnancy, Association Studies Article, 11 Medical and Health Sciences, Genetics (clinical), Genetics & Heredity, 0303 health sciences, FGFP, General Medicine, ALSPAC, Female, medicine.symptom, Glycosuria, GWAS - genome-wide association study, Adult, endocrine system, Adolescent, Genotype, Offspring, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Sodium-Glucose Transporter 2, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Molecular Biology, 030304 developmental biology, Genetic association, nutritional and metabolic diseases, Odds ratio, 06 Biological Sciences, medicine.disease, Pregnancy Complications, Diabetes Mellitus, Type 2, Chromosomes, Human, Pair 16, Genome-Wide Association Study
Abstract: Glycosuria is a condition where glucose is detected in urine at higher concentrations than normal (i.e. not detectable). Glycosuria at some point during pregnancy has an estimated prevalence of 50% and is associated with adverse outcomes in both mothers and offspring. Little is currently known about the genetic contribution to this trait or the extent to which it overlaps with other seemingly related traits, e.g. diabetes. We performed a genome-wide association study (GWAS) for self-reported glycosuria in pregnant mothers from the Avon Longitudinal Study of Parents and Children (cases/controls = 1249/5140). We identified two loci, one of which (lead SNP = rs13337037; chromosome 16; odds ratio of glycosuria per effect allele: 1.42; 95% CI: 1.30, 1.56; P = 1.97 × 10−13) was then validated using an obstetric measure of glycosuria measured in the same cohort (227/6639). We performed a secondary GWAS in the 1986 Northern Finland Birth Cohort (NFBC1986; 747/2991) using midwife-reported glycosuria and offspring genotype as a proxy for maternal genotype. The combined results revealed evidence for a consistent effect on glycosuria at the chromosome 16 locus. In follow-up analyses, we saw little evidence of shared genetic underpinnings with the exception of urinary albumin-to-creatinine ratio (Rg = 0.64; SE = 0.22; P = 0.0042), a biomarker of kidney disease. In conclusion, we identified a genetic association with self-reported glycosuria during pregnancy, with the lead SNP located 15kB upstream of SLC5A2, a target of antidiabetic drugs. The lack of strong genetic correlation with seemingly related traits such as type 2 diabetes suggests different genetic risk factors exist for glycosuria during pregnancy.
Published: 2019

5. A genome-wide approach to children's aggressive behavior: The EAGLE consortium

Author: Nicholas J. Timpson, Michel G. Nivard, Craig E. Pennell, Harold Snieder, Gareth E. Davies, Christel M. Middeldorp, Fernando Rivadeneira, Ilkka Seppälä, Carla M. T. Tiesler, Susan M. Ring, Marie Standl, James J. Hudziak, Kelly S. Benke, Viara R. Mileva-Seitz, Fleur P. Velders, George Davey Smith, Christine Power, Alina Rodriguez, John P. Kemp, René Veenstra, Beate St Pourcain, Harald Grallert, Liisa Keltikangas-Järvinen, Maria M. Groen-Blokhuis, Elina Hyppönen, Irene Pappa, David M. Evans, Marian J. Bakermans-Kranenburg, Joachim Heinrich, Marie-Claude Geoffroy, Christian Hakulinen, Albertine J. Oldehinkel, Dorret I. Boomsma, Elisabeth Thiering, Paul Scheet, George McMahon, Ilja M. Nolte, Henning Tiemeier, Alana Cavadino, Ehsan Motazedi, Terho Lehtimäki, Olli T. Raitakari, Andrew J. O. Whitehouse, Life Course Epidemiology (LCE), Sociology/ICS, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, EMGO+ - Mental Health, Child and Adolescent Psychiatry / Psychology, Erasmus MC other, Epidemiology, Internal Medicine, Psychiatry, Pappa, Irene, St, Pourcain Beate, Benke, Kelly, Cavadino, Alana, Hypponen, Elina, and Tiemeier, Henning
Subjects: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Receptors, Vasopressin, Poison control, Vasopressin/genetics, Genetics, Behavioral/methods, 0302 clinical medicine, Surveys and Questionnaires, Receptors, Psychology, Early childhood, genome-wide complex trait analysis (GCTA), Child, Genetics (clinical), education.field_of_study, HERITABILITY, Genetic Predisposition to Disease/genetics, aggression, Public Health, Global Health, Social Medicine and Epidemiology, ASSOCIATION, Polymorphism, Single Nucleotide/genetics, Justice and Strong Institutions, Aggression, Psychiatry and Mental health, Conduct disorder, DUTCH TWINS, ADOLESCENCE, Meta-analysis, Female, medicine.symptom, Single Nucleotide/genetics, Clinical psychology, SDG 16 - Peace, Adolescent, Population, Aggression/physiology, Single-nucleotide polymorphism, Genetics, Behavioral, Biology, Polymorphism, Single Nucleotide, GENETIC ARCHITECTURE, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, EARLY-CHILDHOOD, education, Receptors, Vasopressin/genetics, Genetic Association Studies, childhood, Behavioral/methods, Behavior, Psykologi, STABILITY, ta1184, SDG 16 - Peace, Justice and Strong Institutions, Genetic Variation, ADULTS, medicine.disease, Genetic architecture, population-based, meta-analysis, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, Genetic Association Studies/methods, 030104 developmental biology, TISSUE, CONDUCT DISORDER, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Individual differences in aggressive behavior emerge in early childhood and predict persisting behavioral problems and disorders. Studies of antisocial and severe aggression in adulthood indicate substantial underlying biology. However, little attention has been given to genome-wide approaches of aggressive behavior in children. We analyzed data from nine population-based studies and assessed aggressive behavior using well-validated parent-reported questionnaires. This is the largest sample exploring children's aggressive behavior to date (N = 18,988), with measures in two developmental stages (N = 15,668 early childhood and N = 16,311 middle childhood/early adolescence). First, we estimated the additive genetic variance of children's aggressive behavior based on genome-wide SNP information, using genome-wide complex trait analysis (GCTA). Second, genetic associations within each study were assessed using a quasi-Poisson regression approach, capturing the highly right-skewed distribution of aggressive behavior. Third, we performed meta-analyses of genome-wide associations for both the total age-mixed sample and the two developmental stages. Finally, we performed a gene-based test using the summary statistics of the total sample. GCTA quantified variance tagged by common SNPs (10-54%). The meta-analysis of the total sample identified one region in chromosome 2 (2p12) at near genome-wide significance (top SNP rs11126630, P = 5.30 x 10(-8)). The separate meta-analyses of the two developmental stages revealed suggestive evidence of association at the same locus. The gene-based analysis indicated association of variation within AVPR1A with aggressive behavior. We conclude that common variants at 2p12 show suggestive evidence for association with childhood aggression. Replication of these initial findings is needed, and further studies should clarify its biological meaning. (C) 2015 Wiley Periodicals, Inc.
Published: 2016

6. Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

Author: Tõnu Esko, Bruce H. R. Wolffenbuttel, Jana V. van Vliet-Ostaptchouk, Peter J. van der Most, Richard Karlsson Linnér, Juan R. González, Emma L Anderson, Harold Snieder, Josje D. Schoufour, Taulant Muka, Chanwook Lee, Philipp Koellinger, Daniel J. Benjamin, K. Paige Harden, George Davey Smith, George McMahon, Kim Valeska Emilie Braun, Kaitlin H Wade, Nita G. Forouhi, James J. Lee, André G. Uitterlinden, Fumiaki Imamuri, Nicholas J. Wareham, Oscar H. Franco, Trudy Voortman, Peter Bowers, Cornelius A. Rietveld, Frank J. A. van Rooij, David Cesarini, Susan M. Ring, Ronald de Vlaming, Jian'an Luan, Aysu Okbay, Jessica C. Kiefte-de Jong, Claudia Langenberg, Mark Alan Fontana, Patrick Turley, Fernando Rivadeneira, M. Arfan Ikram, Mohsen Ghanbari, Pauline M Emmett, S. Fleur W. Meddens, Casper A.P. Burik, and Carson C. Chow
Subjects: 2. Zero hunger, Genetics, 0303 health sciences, Waist, Heart disease, 1. No poverty, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Genome-wide association study, Type 2 diabetes, Biology, medicine.disease, Obesity, Genetic architecture, 03 medical and health sciences, 0302 clinical medicine, medicine, Sugar, 030304 developmental biology
Abstract: We conducted genome-wide association study (GWAS) meta-analyses of relative caloric intake from fat, protein, carbohydrates and sugar in over 235,000 individuals. We identified 21 approximately independent lead SNPs. Relative protein intake exhibits the strongest relationships with poor health, including positive genetic associations with obesity, type 2 diabetes, and heart disease (rg ≈ 0.15 – 0.5). Relative carbohydrate and sugar intake have negative genetic correlations with waist circumference, waist-hip ratio, and neighborhood poverty (|rg| ≈ 0.1 – 0.3). Overall, our results show that the relative intake of each macronutrient has a distinct genetic architecture and pattern of genetic correlations suggestive of health implications beyond caloric content.
Published: 2018

7. Genomic influences on alcohol problems in a population-based sample of young adults

Author: Aaron R. Wolen, Alexis C. Edwards, Charles O. Gardner, John Macleod, Matthew Hickman, Jessica E. Salvatore, Kenneth S. Kendler, Danielle M. Dick, Fazil Aliev, George McMahon, and David M. Evans
Subjects: Genetics, Psychiatry and Mental health, Longitudinal study, Alcohol Use Disorders Identification Test, Genotype, Alcohol dependence, Case-control study, Medicine (miscellaneous), Single-nucleotide polymorphism, Genome-wide association study, Biology, SNP genotyping
Abstract: Aims: Alcohol problems (AP) contribute substantially to the global disease burden. Twin and family studies suggest that AP are genetically influenced, although few studies have identified variants or genes that are robustly associated with risk. This study identifies genetic and genomic influences on AP during young adulthood, which is often when drinking habits are established. Design: We conducted a genome-wide association study of AP. We further conducted gene-based tests, gene ontology analyses and functional genomic enrichment analyses to assess genomic factors beyond single variants that are relevant to AP. Setting: The Avon Longitudinal Study of Parents and Children, a large population-based study of a UK birth cohort. Participants: Genetic and phenotypical data were available for 4304 participants. Measurements: The AP phenotype was a factor score derived from items from the Alcohol Use Disorders Identification Test, symptoms of DSM-IV alcohol dependence, and three additional problem-related items. Findings: One variant met genome-wide significance criteria. Four out of 22880 genes subjected to gene-based analyses survived a stringent significance threshold (q
Published: 2015

8. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Author: Emmi Tikkanen, Pascal Guénel, Rico Rueedi, Hamdi Mbarek, Gerardo Heiss, Hilary K. Finucane, Jing Hua Zhao, Peter K. Joshi, Mark I. McCarthy, Frank B. Hu, Stephen J. Chanock, Manjeet K. Bolla, Sandosh Padmanabhan, Vilmundur Gudnason, Chunyan He, Aarno Palotie, Reedik Mägi, Joe Dennis, Nicholas G. Martin, Behrooz Z. Alizadeh, Elisabeth Widen, Caroline Hayward, Penelope A. Lind, Magdalena Zoledziewska, Ayellet V. Segrè, Fergus J. Couch, Massimo Mangino, Melissa C. Southey, Immaculata De Vivo, Yongmei Liu, Ute Hamann, Angela Cox, Maartje J. Hooning, Iffat Rahman, Mitul Shah, Eric Boerwinkle, Matthias W. Beckmann, Catharina A. Hartman, Tanguy Corre, Kathryn L. Lunetta, Thérèse Truong, Anna Marie Mulligan, Caterina Barbieri, Robert Winqvist, Lili Milani, Cristina Menni, Frits R. Rosendaal, Pau Navarro, Christian Gieger, Ken K. Ong, Stig E. Bojesen, Susan M. Ring, Marjanka K. Schmidt, George McMahon, Deborah J. Thompson, Robert Karlsson, Nicholas J. Timpson, M. Arfan Ikram, Alexander Teumer, Jingmei Li, Christa Meisinger, Diana L. Cousminer, Doris Stöckl, Heli Nevanlinna, Teresa Nutile, Tim D. Spector, Eva Albrecht, Murielle Bochud, Linda Broer, Felix R. Day, Sven Bergmann, Renée de Mutsert, Nicholas J. Wareham, Marjo-Riitta Järvelin, Marzyeh Amini, Elisabeth Altmaier, Isabel dos-Santos-Silva, Peter Vollenweider, Douglas F. Easton, Tamara B. Harris, Ellen A. Nohr, Paul D.P. Pharoah, David J. Porteous, Jenny A. Visser, Ilja M. Nolte, Genevieve Lachance, Thomas Meitinger, Archie Campbell, Thomas Brüning, Graham G. Giles, Johan G. Eriksson, Nancy L. Pedersen, George Davey Smith, Gonneke Willemsen, Joanne M. Murabito, Francesco Cucca, Daniel I. Chasman, Eleonora Porcu, Nora Franceschini, Thibaud Boutin, Ulla Sovio, Roger L. Milne, Annette Peters, Lisette Stolk, Paul M. Ridker, Claudia Langenberg, Patrick Sulem, Toshiko Tanaka, Marike Gabrielson, Judith S. Brand, Unnur Thorsteindottir, Alison M. Dunning, Marina Ciullo, Julie E. Buring, Harold Snieder, Lude Franke, Meir J. Stampfer, Po-Ru Loh, Julian Peto, Ellen W. Demerath, Sheila Ulivi, Ivana Kolcic, Maristella Steri, Jouke J. Hottenga, Amanda B. Spurdle, Tõnu Esko, Katherine S. Pollard, Eulalia Catamo, Anneli Pouta, Kyriaki Michailidou, Dieter Flesch-Janys, James F. Wilson, Kamila Czene, Sean Whalen, Diether Lambrechts, Abhishek Sarkar, Laura Crisponi, Jonathan Tyrer, Antonietta Robino, Sara Lindström, Harald Grallert, Stefania Lenarduzzi, Peter Kraft, Patrik K. E. Magnusson, Lavinia Paternoster, Digna R. Velez Edwards, Mike A. Nalls, Per Hall, Joyce Y. Tung, Cinzia Sala, Lindsay Fernández-Rhodes, Ayush Giri, Hiltrud Brauch, André G. Uitterlinden, Alkes L. Price, Tracy A. O'Mara, Lynda M. Rose, John L. Hopper, David A. Hinds, Katherine S. Ruth, Arto Mannermaa, Uwe Völker, Rossella Sorice, Zoltán Kutalik, Debbie A Lawlor, Georgia Chenevix-Trench, Anna Murray, Albertine J. Oldehinkel, Bruce H. R. Wolffenbuttel, Hae Kyung Im, Dale R. Nyholt, Lenore J. Launer, Andres Metspalu, Irene L. Andrulis, Konstantin Strauch, Albert V. Smith, Daniela Toniolo, Eco J. C. de Geus, Jenny Chang-Claude, Marek Zygmunt, Dorret I. Boomsma, Harry Campbell, Peter Devilee, Henry Völzke, Daniela Ruggiero, Dennis O. Mook-Kanamori, John R. B. Perry, Javier Benitez, Grant W. Montgomery, David J. Hunter, David Karasik, Luigi Ferrucci, Emily Hallberg, Stefania Bandinelli, Hermann Brenner, Raymond Noordam, Sarah E. Medland, Peter A. Fasching, Qin Wang, Ilaria Gandin, Manolis Kellis, Hannes Helgason, Igor Rudan, Paolo Radice, Michela Traglia, Jian'an Luan, Robert A. Scott, Brumat Marco, Veronique Vitart, Kari Stefansson, Katharina E. Schraut, Ko Willems van Dijk, Ozren Polasek, Daniel F. Gudbjartsson, Natalia Perjakova, Joop S.E. Laven, Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Art and Culture, History, Antiquity, Day, Felix R., Thompson, Deborah J., Helgason, Hanne, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, CATERINA MARIA, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po Ru, Lunetta, Kathryn L., Mangino, Massimo, Brumat, Marco, Mcmahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M., Schraut, Katharina E., Segrã¨, Ayellet V., Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L., Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brã¼ning, Thoma, Buring, Julie E., Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix Trench, Georgia, Corre, Tanguy, Couch, Fergus J., Cousminer, Diana L., Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, De Geus, Eco J. C. N., De Mutsert, Renã©e, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, Dos Santos Silva, Isabel, Dunning, Alison M., Eriksson, Johan G., Fasching, Peter A., FernÃ¡ndez Rhodes, Lindsay, Ferrucci, Luigi, Flesch Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Guã©nel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B., Hartman, Catharina A., Heiss, Gerardo, Hooning, Maartje J., Hopper, John L., Hu, Frank, Hunter, David J., Ikram, M. Arfan, Im, Hae Kyung, Jã¤rvelin, Marjo Riitta, Joshi, Peter K., Karasik, David, Kellis, Manoli, Kutalik, Zoltan, Lachance, Genevieve, Lambrechts, Diether, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lenarduzzi, Stefania, Li, Jingmei, Lind, Penelope A., Lindstrom, Sara, Liu, Yongmei, Luan, Jian'An, Mã¤gi, Reedik, Mannermaa, Arto, Mbarek, Hamdi, Mccarthy, Mark I., Meisinger, Christa, Meitinger, Thoma, Menni, Cristina, Metspalu, Andre, Michailidou, Kyriaki, Milani, Lili, Milne, Roger L., Montgomery, Grant W., Mulligan, Anna M., Nalls, Mike A., Navarro, Pau, Nevanlinna, Heli, Nyholt, Dale R., Oldehinkel, Albertine J., O'Mara, Tracy A., Padmanabhan, Sandosh, Palotie, Aarno, Pedersen, Nancy, Peters, Annette, Peto, Julian, Pharoah, Paul D. P., Pouta, Anneli, Radice, Paolo, Rahman, Iffat, Ring, Susan M., Robino, Antonietta, Rosendaal, Frits R., Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F., Schmidt, Marjanka K., Scott, Robert A., Shah, Mitul, Sorice, Rossella, Southey, Melissa C., Sovio, Ulla, Stampfer, Meir, Steri, Maristella, Strauch, Konstantin, Tanaka, Toshiko, Tikkanen, Emmi, Timpson, Nicholas J., Traglia, Michela, Truong, Thã©rã¨se, Tyrer, Jonathan P., Uitterlinden, AndrÃ© G., Edwards, Digna R. Velez, Vitart, Veronique, Vã¶lker, Uwe, Vollenweider, Peter, Wang, Qin, Widen, Elisabeth, Van Dijk, Ko Willem, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Zhao, Jing Hua, Zoledziewska, Magdalena, Zygmunt, Marek, Alizadeh, Behrooz Z., Boomsma, Dorret I., Ciullo, Marina, Cucca, Francesco, Esko, Tãµnu, Franceschini, Nora, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Kraft, Peter, Lawlor, Debbie A., Magnusson, Patrik K. E., Martin, Nicholas G., Mook Kanamori, Dennis O., Nohr, Ellen A., Polasek, Ozren, Porteous, David, Price, Alkes L., Ridker, Paul M., Snieder, Harold, Spector, Tim D., Stã¶ckl, Dori, Toniolo, Daniela, Ulivi, Sheila, Visser, Jenny A., Vã¶lzke, Henry, Wareham, Nicholas J., Wilson, James F., LifeLines Cohort, Study, Interact, Consortium, Kconfab/aocs, Investigator, Endometrial Cancer Association, Consortium, Ovarian Cancer Association, Consortium, Practical, Consortium, Spurdle, Amanda B., Thorsteindottir, Unnur, Pollard, Katherine S., Easton, Douglas F., Tung, Joyce Y., Chang Claude, Jenny, Hinds, David, Murray, Anna, Murabito, Joanne M., Stefansson, Kari, Ong, Ken K., Perry, John R. B., Internal Medicine, Erasmus MC other, Medical Oncology, Epidemiology, Obstetrics & Gynecology, Day, Felix [0000-0003-3789-7651], Thompson, Deborah [0000-0003-1465-5799], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Pharoah, Paul [0000-0001-8494-732X], Sovio, Ulla [0000-0002-0799-1105], Tyrer, Jonathan [0000-0003-3724-4757], Zhao, Jing Hua [0000-0003-4930-3582], Wareham, Nicholas [0000-0003-1422-2993], Easton, Douglas [0000-0003-2444-3247], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Massachusetts Institute of Technology. Department of Mathematics, and Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Subjects: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Ovarian Cancer Association Consortium, LOCI, Genome-wide association study, cancer risk, Menarche/genetics, Bioinformatics, GWAS, menarche, puberty, Body Mass Index, Risk Factors, Neoplasms, Databases, Genetic, WIDE ASSOCIATION, Endometrial Cancer Association Consortium, Ribonucleoproteins/genetics, 2. Zero hunger, Genetics, Age Factors, Genetics GWAS menarche, reproductive disorders, Neoplasms/genetics, 3. Good health, Ribonucleoproteins, Menarche, MENDELIAN RANDOMIZATION, Intercellular Signaling Peptides and Proteins, GROWTH, Female, TRAITS, Population variance, Intercellular Signaling Peptides and Proteins/genetics, Adolescent, Ubiquitin-Protein Ligases, kConFab/AOCS Investigators, Quantitative Trait Loci, Quantitative trait locus, Biology, METABOLISM, INHERITANCE, Polymorphism, Single Nucleotide, PRACTICAL consortium, 03 medical and health sciences, Genomic Imprinting, SDG 3 - Good Health and Well-being, Mendelian randomization, REGRESSION, medicine, Journal Article, Humans, cancer, Genetic Predisposition to Disease, 1000 Genomes Project, Membrane Proteins/genetics, METAANALYSIS, Puberty, Calcium-Binding Proteins, Membrane Proteins, Cancer, InterAct Consortium, Heritability, medicine.disease, BODY-MASS INDEX, 030104 developmental biology, genome-wide association studies, Puberty/genetics, LifeLines Cohort Study, Genome-Wide Association Study
Abstract: The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to similar to 370,000 women, we identify 389 independent signals (P
Published: 2017

9. Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Author: Gu Zhu, Cornelia M. van Duijn, M. Arfan Ikram, Alessia Visconti, Maria Pina Concas, Veronique Bataille, Nicholas G. Martin, George Davey Smith, Merel A. Hamer, Gonneke Willemsen, Massimiliano Cocca, Fan Liu, Marco Brumat, Antonietta Robino, Bochao D. Lin, Pirro G. Hysi, Tamar Nijsten, Changqing Zeng, Scott D. Gordon, Ilaria Gandin, David M. Evans, Dorret I. Boomsma, Susan M. Ring, Mario Falchi, Yan Chen, Alex W. Hewitt, Gibran Hemani, Jouke-Jan Hottenga, Seyhan Yazar, Tim D. Spector, David L. Duffy, Nicholas A. Furlotte, André G. Uitterlinden, Paolo Gasparini, Sarah E. Medland, Dragana Vuckovic, Giorgia Girotto, Cinzia Sala, David A. Mackey, George McMahon, Daniela Toniolo, Manfred Kayser, David A. Hinds, Ana M. Valdes, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, and APH - Methodology
Subjects: Netherlands Twin Register (NTR), Variation (linguistics), Meta-analysis, Published Erratum, Genetics, Fraction (mathematics), Genome-wide association study, Biology, Heritability, Genealogy, Genetic association
Abstract: In the HTML version of this article initially published, the author groups ‘23andMe Research Team’ and ‘Social Science Genetic Association Consortium’ appeared at the end of the author list but should have appeared earlier in the list, after author Nicholas A. Furlotte. The errors have been corrected in the HTML version of the article.
Published: 2019

10. A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

Author: George McMahon, Beate St Pourcain, Susan M. Ring, Chuong B. Do, Nicholas Eriksson, George Davey-Smith, Uta Francke, David A. Hinds, David M. Evans, Amy K. Kiefer, Joanna L. Mountain, Nicholas J. Timpson, and Joyce Y. Tung
Subjects: Adult, Male, Allergy, Locus (genetics), Genome-wide association study, Disease, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Hypersensitivity, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Aged, 030304 developmental biology, Autoimmune disease, 0303 health sciences, Pyroglyphidae, Allergens, Middle Aged, medicine.disease, 3. Good health, Genetic Loci, TLR6, Immunology, Cats, Female, Self Report, Genome-Wide Association Study, 030215 immunology
Abstract: Allergic disease is very common and carries substantial public-health burdens. We conducted a meta-analysis of genome-wide associations with self-reported cat, dust-mite and pollen allergies in 53,862 individuals. We used generalized estimating equations to model shared and allergy-specific genetic effects. We identified 16 shared susceptibility loci with association P
Published: 2013

11. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Beate St Pourcain, Abhishek Nag, Federico Murgia, Emily Y. Chew, Veluchamy A. Barathi, James F. Wilson, Jamie E Craig, Veronique Vitart, Myopia (Cream), Olavi Pärssinen, Cathy Williams, Sarayut Janmahasatian, Alex W. Hewitt, Felicia Hawthorne, Norbert Pfeiffer, Yik Ying Teo, Johannes R. Vingerling, Shea Ping Yip, Alan F. Wright, Tanja Zeller, Robert P. Igo, David M. Evans, Maria Schache, Nicholas J. Timpson, Fernando Rivadeneira, E-Shyong Tai, Craig E. Pennell, Ozren Polasek, Olli T. Raitakari, Tin Aung, Christian P. Müller, René Höhn, Paul Mitchell, Lennart C. Karssen, George McMahon, Mika Kähönen, Juho Wedenoja, Tien Yin Wong, Angela Döring, Jost B. Jonas, Albert Hofman, Konrad Oexle, Jugnoo S Rahi, Complications Trial, Ben A. Oostra, Kathryn P. Burdon, Pirro G. Hysi, Sudha K. Iyengar, Tim D. Spector, Li Jia Chen, Claire L. Simpson, S. Mohsen Hosseini, Dwight Stambolian, Alireza Mirshahi, Arthur A.B. Bergen, Terri L. Young, Rick Twee-Hee Ong, Andres Metspalu, Ioana Cotlarciuc, Liang Xu, Xin Zhou, Toomas Haller, Virginie J. M. Verhoeven, David A. Mackey, Brian W Fleck, André G. Uitterlinden, John P. Kemp, Chi Pui Pang, Seang-Mei Saw, Thomas Meitinger, Gabriëlle H.S. Buitendijk, Peng Chen, Joan E. Bailey-Wilson, Wei Ang, Stuart MacGregor, Caroline Hayward, Andrew D. Paterson, Jie Jin Wang, Ruoying Li, Cornelia M. van Duijn, Ching-Yu Cheng, Jiemin Liao, Theo G. M. F. Gorgels, Annemieke J.M.H. Verkerk, Mario Pirastu, Robert Wojciechowski, Christopher J Hammond, Paul N. Baird, Qiao Fan, Grant W. Montgomery, Jeremy A. Guggenheim, Wan Ting Tay, M. Kamran Ikram, Terho Lehtimäki, Ekaterina Yonova-Doing, Najaf Amin, Ronald Klein, Kari-Matti Mäkelä, Chiea Chuen Khor, Barbara E.K. Klein, Eranga N. Vithana, Yingfeng Zheng, Phillippa M. Cumberland, Caroline C W Klaver, Hoi Suen Wong, Aniket Mishra, Daniel W.H. Ho, Igor Rudan, Complications (Dcct), Jonathan H. Lass, Zoran Vatavuk, Other departments, ANS - Amsterdam Neuroscience, Human Genetics, Ophthalmology, Pathology, Epidemiology, Cell biology, Anesthesiology, Internal Medicine, Clinical Genetics, Obstetrics & Gynecology, Amsterdam Neuroscience, and Netherlands Institute for Neuroscience (NIN)
Subjects: Candidate gene, Refractive error, Bone Morphogenetic Protein 2, Genome-wide association study, VARIANTS, Genome, Genome-wide association studies, 0302 clinical medicine, Risk Factors, Myopia, GRIA4, Genetics, 0303 health sciences, KCNQ Potassium Channels, Disease genetics, EYE GROWTH, ASSOCIATION, RETINAL-PIGMENT EPITHELIUM, Refractive Errors, Genetic load, 3. Good health, ADAPTED MOUSE RETINA, Meta-analysis, ACID, POTASSIUM CHANNEL, EXPRESSION, Single-nucleotide polymorphism, Biology, White People, Article, 03 medical and health sciences, Asian People, medicine, Humans, Genetic Predisposition to Disease, Receptors, AMPA, gene, myopia, refractive, 030304 developmental biology, Homeodomain Proteins, ta1184, ta3121, medicine.disease, GENE, Alcohol Oxidoreductases, SERINE-PROTEASE, biology.protein, 030221 ophthalmology & optometry, Susceptibility locus, Trans-Activators, Eye disorder, Laminin, Serine Proteases, GWAS, meta-analyses, refractive error, Genome-Wide Association Study
Abstract: Author version made available in accordance with the publisher's policy., Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia., Australian National Health and Medical Research Council.
Published: 2013

12. Genome-wide associations for birth weight and correlations with adult disease

Author: Anubha Mahajan, George McMahon, Charlotta Pisinger, Timothy M. Frayling, Elisabeth M. van Leeuwen, Felix R. Day, Virpi Lindi, Allan Vaag, Debbie A Lawlor, Natalie R. van Zuydam, Peter Kovacs, David Torrents, Bjarke Feenstra, Peter Vollenweider, David P. Strachan, Krina T. Zondervan, John R. B. Perry, Jorma Viikari, Pedro Marques-Vidal, Kalliope Panoutsopoulou, Ruifang Li-Gao, Juan Fernández-Tajes, Carolina Medina-Gomez, Nicole M. Warrington, Josep M. Mercader, Antje Körner, David M. Evans, Albert Hofman, Hans Bisgaard, Amanda J. Bennett, Eleanor Davies, Linda S. Adair, Oluf Pedersen, Mustafa Atalay, Sylvain Sebert, Ying Wu, Haja N. Kadarmideen, Ronald C.W. Ma, Lawrence J. Beilin, David M. Hougaard, Diana L. Cousminer, Louise A. Diver, Jing Hua Zhao, Nilufer Rahmioglu, Peter K. Joshi, Neil R. Robertson, Johannes Waage, Hugoline G. de Haan, Jens-Christian Holm, Dale R. Nyholt, Torben Hansen, Sara M. Willems, Sílvia Bonàs-Guarch, Carol A. Wang, Rico Rueedi, Lavinia Paternoster, James F. Wilson, Cilius Esmann Fonvig, Leo-Pekka Lyytikäinen, Hanieh Yaghootkar, Momoko Horikoshi, Gonneke Willemsen, Dennis O. Mook-Kanamori, Lisbeth Carstensen, Mariona Bustamante, Emil V. R. Appel, Christian Theil Have, Rebecca M. Reynolds, Niels Grarup, Seang-Mei Saw, Yik Ying Teo, Brian R. Walker, Anke Tönjes, Christopher J. Groves, Andrew P. Morris, Katja Pahkala, Marjolein N. Kooijman, Kyle J. Gaulton, Eskil Kreiner, Michael Stumvoll, Eleftheria Zeggini, Vincent W. V. Jaddoe, Zoltán Kutalik, Scott M. MacKenzie, George Davey Smith, Christine Power, Denise M. Scholtens, Joachim Heinrich, Samuel E. Jones, William L. Lowe, Eco J. C. de Geus, Jonathan P. Bradfield, Andrew T. Hattersley, Janine F. Felix, Wing Hung Tam, Frits R. Rosendaal, Wieland Kiess, Claudia H. T. Tam, Inga Prokopenko, Terho Lehtimäki, Frank D. Mentch, Marjo-Riitta Järvelin, Struan F.A. Grant, Santhi K. Ganesh, Fernando Rivadeneira, Thorkild I. A. Sørensen, André G. Uitterlinden, Marie Standl, Jian'an Luan, Gibran Hemani, Marcus A. Tuke, Andrew R. Wood, Robert A. Scott, Cæcilie Trier, Tarunveer S. Ahluwalia, Michael Nodzenski, Jouke-Jan Hottenga, Ken K. Ong, Po-Ru Loh, Nicholas J. Timpson, George Dedoussis, Friman Sánchez, Mark I. McCarthy, Frank Geller, Harri Niinikoski, Martine Vrijheid, Hakon Hakonarson, John P. Newnham, Xu Wang, Elina Hyppönen, Johan G. Eriksson, Craig E. Pennell, Niina Pitkänen, Rachel M. Freathy, Elisabeth Widen, Judith B. Borja, Karen L. Mohlke, Mads Melbye, Carla M. T. Tiesler, Susan M. Ring, Jessica Tyrrell, Elisabeth Thiering, Timo A. Lakka, Eileen Tai-Hui Boh, Olli T. Raitakari, Nicholas J. Wareham, Mario Murcia, Natalia Vilor-Tejedor, Katherine S. Ruth, Dorret I. Boomsma, Harry Campbell, Vasiliki Lagou, Robin N Beaumont, Klaus Bønnelykke, Claudia Langenberg, Catharina E. M. van Beijsterveldt, Mika Kähönen, Mads V. Hollegaard, Frank J.A. van Rooij, Katharina E. Schraut, Ioanna Ntalla, Raimo Joro, Cornelia M. van Duijn, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Day, Felix [0000-0003-3789-7651], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Zhao, Jing Hua [0000-0003-4930-3582], Wareham, Nicholas [0000-0003-1422-2993], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Erasmus MC other, Medical Microbiology & Infectious Diseases, Epidemiology, Medical Oncology, Child and Adolescent Psychiatry / Psychology, Public Health, Internal Medicine, Pediatrics, Horikoshi, Momoko, Beaumont, Robin N, Day, Felix R, Warrington, Nicole, Hyppönen, Elina, and Freathy, Rachel M
Subjects: Male, 0301 basic medicine, Netherlands Twin Register (NTR), Aging, Datasets as Topic, Physiology, Blood Pressure, Genome-wide association study, Coronary Artery Disease, Type 2 diabetes, Bioinformatics, CHARGE Consortium Hematology Working Group, Cohort Studies, 0302 clinical medicine, Birth Weight, Insulin, Glucose homeostasis, 030212 general & internal medicine, education.field_of_study, Multidisciplinary, Anthropometry, 3. Good health, Phenotype, Female, Glycogen, Signal Transduction, Adult, hypertension, Genotype, General Science & Technology, Birth weight, intrauterine growth, Population, Quantitative trait locus, Biology, Article, quantitative trait, Genomic Imprinting, 03 medical and health sciences, Fetus, SDG 3 - Good Health and Well-being, Early Growth Genetics (EGG) Consortium, MD Multidisciplinary, Genetic variation, medicine, Humans, metabolic disorders, Genetic Predisposition to Disease, education, genome, Genetic association, Genetic Variation, birth weight, ta3121, Chromatin Assembly and Disassembly, medicine.disease, ta3123, Glucose, 030104 developmental biology, Diabetes Mellitus, Type 2, Genetic Loci, genome-wide association studies, adult disease, Genome-Wide Association Study
Abstract: Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P&thinsp
Published: 2016

13. Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

Author: Nora Franceschini, Rico Rueedi, Gerardo Heiss, Behrooz Z. Alizadeh, Marike Gabrielson, Henry Völzke, Daniela Ruggiero, Judith S. Brand, Stig E. Bojesen, Iffat Rahman, Fergus J. Couch, Patrick Sulem, Harold Snieder, Jenny Chang-Claude, Caterina Barbieri, Ute Hamann, Hinds D, Pascal Guénel, Amanda B. Spurdle, Paul M. Ridker, Ulla Sovio, Roger L. Milne, Hamdi Mbarek, H Brenner, Hilary K. Finucane, Maristella Steri, Lude Franke, Emmi Tikkanen, Ivana Kolcic, Vitart, Ken K. Ong, Alison M. Dunning, Aarno Palotie, Caroline Hayward, Jouke J. Hottenga, Abhishek Sarkar, Stefania Lenarduzzi, Nicholas G. Martin, Katharina E. Schraut, Eva Albrecht, Hiltrud Brauch, Lisette Stolk, Joop S.E. Laven, Penelope A. Lind, Ilaria Gandin, Patrik K. E. Magnusson, Ellen A. Nohr, Tanguy Corre, Jing Hua Zhao, N J Timpson, Jenny A. Visser, Harald Grallert, P. A. Fasching, Susan M. Ring, Stöckl D, Grant W. Montgomery, Marzyeh Amini, Velez Edwards Dr, Thomas Meitinger, Qinghua Wang, David Karasik, Daniel I. Chasman, Nicholas J. Wareham, Alexander Teumer, Mellissa C. Southey, Kathryn L. Lunetta, S. E. Medland, Dieter Flesch-Janys, Maartje J. Hooning, Lili Milani, D Lambrechts, Ozren Polasek, Po-Ru Loh, James F. Wilson, Campbell A, Julian Peto, Ellen W. Demerath, Christian Gieger, de Geus Ej, Cox A, Javier Benítez, Mitul Shah, Eric Boerwinkle, Matthias W. Beckmann, Thorsteindottir U, Julie E. Buring, De Vivo I, Hannes Helgason, Paolo Radice, Tracy A. O'Mara, L. J. Launer, D. F. Gudbjartsson, Frits R. Rosendaal, C.A. Hartman, Stefania Bandinelli, Felix R. Day, Lynda M. Rose, van Dijk Kw, Natalia Perjakova, Anneli Pouta, Igor Rudan, Sven Bergmann, Kamila Czene, Georgia Chenevix-Trench, Pau Navarro, Sean Whalen, Heli Nevanlinna, Teresa Nutile, Diana L. Cousminer, Albert V. Smith, Massimo Mangino, Uwe Völker, Michela Traglia, Lindsay Fernández-Rhodes, Ayush Giri, Linda Broer, Albertine J. Oldehinkel, Isabel dos-Santos-Silva, Peter Vollenweider, Jian'an Luan, Nancy L. Pedersen, Irene L. Andrulis, Reedik Mägi, Robert Winqvist, Gonneke Willemsen, John L. Hopper, Gudnason, Marjanka K. Schmidt, David G. Hunter, Robert A. Scott, T.B. Harris, Joanne M. Murabito, David J. Porteous, Harry Campbell, Eleonora Porcu, D.I. Boomsma, Thibaud Boutin, M. A. Ikram, Doug Easton, Magdalena Zoledziewska, Meir J. Stampfer, Katherine S. Pollard, Eulalia Catamo, Tõnu Esko, M-R Jarvelin, Laura Crisponi, Claudia Langenberg, Marek Zygmunt, Antonietta Robino, Emily Hallberg, Manjeet K. Bolla, Ruth Ks, Bruce H W Wolffenbuttel, Lavinia Paternoster, Tyrer Jp, P. Kraft, George Davey-Smith, Robert Karlsson, Graham G. Giles, Jingmei Li, Pharoah Pd, Segrè Av, Marina Ciullo, Perry, Brumat Marco, Peter K. Joshi, Chunyan He, Sara Lindström, Joe Dennis, Thérèse Truong, Yongmei Liu, Anna Marie Mulligan, Mike A. Nalls, Cinzia Sala, K. Stefansson, Murray A, Debbie A Lawlor, Tung Jy, Deborah J. Thompson, Dennis O. Mook-Kanamori, Daniela Toniolo, Luigi Ferrucci, Peter Devilee, S. Chanock, Cristina Menni, George McMahon, Murielle Bochud, A. Metspalu, Tomohiro Tanaka, E. Widen, Hae Kyung Im, Dale R. Nyholt, Ilja M. Nolte, Thomas Brüning, Christina Meisinger, Annette Peters, Kyriaki Michailidou, Per Hall, Rossella Sorice, Genevieve Lachance, Johan G. Eriksson, Francesco Cucca, A.G. Uitterlinden, Z. Kutalik, Mark I. McCarthy, Frank B. Hu, Konstantin Strauch, Tim D. Spector, Elisabeth Altmaier, S. Ulivi, Alkes L. Price, Arto Mannermaa, Raymond Noordam, and de Mutsert R
Subjects: Genetics, 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genotype, Menarche, Trait, Cancer susceptibility, Genomics, Biology, 030304 developmental biology
Abstract: The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Here, we analyse 1000-Genome reference panel imputed genotype data on up to ~370,000 women and identify 389 independent signals (all P−8) for age at menarche, a notable milestone in female pubertal development. In Icelandic data from deCODE, these signals explain ~7.4% of the population variance in age at menarche, corresponding to one quarter of the estimated heritability. We implicate over 250 genes via coding variation or associated gene expression, and demonstrate enrichment across genes active in neural tissues. We identify multiple rare variants near the imprinted genes MKRN3 and DLK1 that exhibit large effects on menarche only when paternally inherited. Disproportionate effects of variants on early or late puberty timing are observed: single variant and heritability estimates are larger for early than late puberty timing in females. The opposite pattern is seen in males, with larger estimates for late than early puberty timing. Mendelian randomization analyses indicate causal inverse associations, independent of BMI, between puberty timing and risks for breast and endometrial cancers in women, and prostate cancer in men. In aggregate, our findings reveal new complexity in the genetic regulation of puberty timing and support new causal links with adult cancer risks.
Published: 2016
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14. A genome-wide association meta-analysis identifies new childhood obesity loci

Author: Craig E. Pennell, Chris Power, Johannes Hebebrand, David Meyre, Jean Dallongeville, Pma Sleiman, Mark I. McCarthy, Joel N. Hirschhorn, Nicholas J. Timpson, Nicole M. Warrington, Rjp van der Valk, Karani Santhanakrishnan Vimaleswaran, A Pouta, Mònica Guxens, Mariona Bustamante, Luis A. Moreno, M-R Jarvelin, Fredrick R. Schumacher, Aline Meirhaeghe, Charlotte E. Neville, Beatriz Valcarcel, Eleanor Wheeler, Hakon Hakonarson, Stephen O'Rahilly, D. S. Postma, Albert Hofman, Fernando Rivadeneira, Johan G. Eriksson, Hans Bisgaard, George McMahon, Vwv Jaddoe, I. S. Farooqi, Shikta Das, Diane J. Berry, Eskil Kreiner-Møller, Mohamed T. Hassanein, J. C. de Jongste, Joachim Heinrich, Olli T. Raitakari, Jessica L. Buxton, Aarno Palotie, W. J. Gauderman, Paul Elliott, C. Lecoeur, Reedik Mägi, Elina Hyppönen, C M van Duijn, B. St Pourcain, Frank D. Gilliland, Susan M. Ring, John P. Kemp, Rany M. Salem, Lyle J. Palmer, Terho Lehtimäki, Philippe Froguel, Ivonne Jarick, Cag Boreham, Elisabeth Thiering, Dorret I. Boomsma, Sfa Grant, A.-L. Hartikainen, André Scherag, Panagiotis Deloukas, Claus Holst, Jianhua Zhao, André G. Uitterlinden, Robert I. Berkowitz, Cecilia M. Lindgren, Tia Sorensen, Aif Blakemore, Mingyao Li, George Davey Smith, Dennis O. Mook-Kanamori, H R Taal, David M. Evans, Diana L. Cousminer, Matthew W. Gillman, Jonathan P. Bradfield, E. Widen, Anke Hinney, Inês Barroso, Groningen Research Institute of Pharmacy, Groningen Research Institute for Asthma and COPD (GRIAC), Epidemiology, Erasmus MC other, Internal Medicine, Pediatrics, Public Health, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Early Growth Genetics (EGG) Consortium, Bradfield, Jonathan P, Taal, H Rob, Timpson, Nicholas J, Scherag, André, Hypponen, Elina Tuulikki, and Grant, Struan FA
Subjects: Netherlands Twin Register (NTR), Percentile, adult BMI, Physiology, Endocrinology, Diabetes and Metabolism, Medizin, Genome-wide association study, Overweight, Cardiovascular, Genome-wide association studies, Biochemistry, Medical and Health Sciences, Oral and gastrointestinal, Body Mass Index, Endocrinology, 0302 clinical medicine, QP1-981, Cancer, 2. Zero hunger, Genetics, Pediatric, 0303 health sciences, Nutrition and Dietetics, Disease genetics, Single Nucleotide, Biological Sciences, Stroke, 030220 oncology & carcinogenesis, Meta-analysis, medicine.symptom, Genetic Markers, Adult, Helicobacter-pylori, Adolescent, 030209 endocrinology & metabolism, Body-mass index, QD415-436, Biology, Polymorphism, Single Nucleotide, Article, Childhood obesity, 03 medical and health sciences, Young Adult, BMI, SDG 3 - Good Health and Well-being, HELICOBACTER-PYLORI, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, Obesity, Polymorphism, modern society, Metabolic and endocrine, 030304 developmental biology, Nutrition, OVERWEIGHT, Early Growth Genetics Consortium, genetic variants, Human Genome, Public Health, Environmental and Occupational Health, Case-control study, Odds ratio, ta3121, medicine.disease, PREVENTION, BODY-MASS INDEX, Genetic Loci, Case-Control Studies, Body mass index, Demography, Genome-Wide Association Study, Developmental Biology
Abstract: Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of 14 studies consisting of 5,530 cases (≥95th percentile of body mass index (BMI)) and 8,318 controls (
Published: 2016

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

Author: Ozren Polasek, Bo Jacobsson, Eleonora Porcu, Vinicius Tragante, Joel Eriksson, Jie Yao, Mika Kähönen, Mark Alan Fontana, Stefania Cappellani, J. Viikari, Rick Jansen, Crysovalanto Mamasoula, Linda Broer, Tamara B. Harris, Ellen A. Nohr, Genevieve Lachance, Johan G. Eriksson, Nicholas Eriksson, Rico Rueedi, Francesco Cucca, Jaakko Kaprio, Nicholas J. Timpson, George Dedoussis, Matt McGue, Per Magnus, Klaus Berger, Olli T. Raitakari, Cornelia M. van Duijn, Brenda W.J.H. Penninx, Jing Hua Zhao, Peter Eibich, Sheila Ulivi, Hugoline G. de Haan, Ronny Myhre, Ruth McQuillan, Florian Kronenberg, Markus Perola, Klaus Bønnelykke, Robert Karlsson, Martina La Bianca, Paul Mitchell, Ian J. Deary, Melinda Mills, Teresa Nutile, Patrick J. F. Groenen, Stacey A. Missmer, Nicholas G. Martin, Panos Deloukas, Mario Pirastu, Lindsay K. Matteson, Robert Luben, Veikko Salomaa, Renée de Mutsert, Chris Power, Nir Barzilai, Annette Kifley, Hamdi Mbarek, Denis A. Evans, Erica P. Gunderson, Tim D. Spector, Anke Tönjes, Michela Traglia, Claire Monnereau, Karin Halina Greiser, Sharon L.R. Kardia, John M. Starr, Peter K. Joshi, Sandra Lai, Doris Stöckl, James J. Lee, Heather J. Cordell, Andrew Bakshi, Nicholas J. Wareham, David C. Liewald, P Koponen, Paul M. Ridker, Joyce Y. Tung, Ilaria Gandin, Kauko Heikkilä, Johannes Haerting, Gonneke Willemsen, Janet W. Rich-Edwards, Andrew C. Heath, Astanand Jugessur, John L. Hopper, Stefan Kiechl, Henry Völzke, Daniela Ruggiero, John R. B. Perry, Dan Mellström, Simon R. Cox, Yasaman Saba, Magnus Johannesson, Ginevra Biino, David Schlessinger, Kirsi Auro, Dennis O. Mook-Kanamori, Christa Meisinger, Igor Rudan, Audrey J. Gaskins, Lars Bertram, Roy Thurik, Laura M. Yerges-Armstrong, Caterina Barbieri, Katri Räikkönen, Lawrence F. Bielak, Aviv Bergman, Philipp Koellinger, Ronald de Vlaming, Tian Liu, Johannes W. A. Smit, Peter Kovacs, Vincent W. V. Jaddoe, Jennifer A. Smith, Sven Bergmann, Inga Prokopenko, Xiuqing Guo, Marina Ciullo, Krina T. Zondervan, Marcel den Hoed, Daniel J. Benjamin, Kathryn Roll, Alan F. Wright, Helena Schmidt, William G. Iacono, Jie Jin Wang, Harold Snieder, Juho Wedenoja, Tarunveer S. Ahluwalia, David R. Weir, Ken K. Ong, Daniela Toniolo, Ruifang Li-Gao, Evelin Mihailov, Edith Hofer, Leslie J. Raffel, Daniel I. Chasman, Alexander Kluttig, Bernard Keavney, Eco J. C. de Geus, Kathleen A. Ryan, Kristin L. Ayers, Lude Franke, S. Fleur W. Meddens, Alison Pattie, Jornt J. Mandemakers, Eva Albrecht, David Cesarini, Beverley Balkau, Grant W. Montgomery, Michael Stumvoll, Ahmad Vaez, Michael B. Miller, Najaf Amin, Gyda Bjornsdottir, Cecile Lecoeur, Enes Makalic, Marc Jan Bonder, Terho Lehtimäki, Albert Hofman, Loic Yengo, Lynda M. Rose, Lisette Stolk, Juergen Wellmann, Gail Davies, Eero Kajantie, Nicole Schupf, Hans Bisgaard, Unnur Thorsteinsdottir, Konstantin Strauch, Ivana Kolcic, Lili Milani, Chunyan He, Claes Ohlsson, Yongmei Liu, Gil Atzmon, Janine F. Felix, Christian Gieger, Mike A. Nalls, Riitta Luoto, Nicola Barban, Philippe Froguel, Daniel F. Schmidt, Dorret I. Boomsma, Harry Campbell, Xia Shen, Vasiliki Lagou, Danny Ben-Avraham, Veronique Vitart, Ioanna P. Kalafati, Kari Stefansson, Daria V. Zhernakova, Constance Turman, Julie E. Buring, Johannes Waage, James F. Wilson, Maria Pina Concas, Zoltán Kutalik, Peter Willeit, Jørn Olsen, Dan Rujescu, Caroline Hayward, Penelope A. Lind, George McMahon, Elizabeth G. Holliday, Ilja M. Nolte, Fahimeh Falahi, Minh Bui, Gudmar Thorleifsson, Patrick F. McArdle, Cinzia Sala, Alana Cavadino, Rossella Sorice, Wei Zhao, Andres Metspalu, Sander W. van der Laan, Stavroula Kanoni, Elina Hyppönen, Morris A. Swertz, Simona Vaccargiu, Felix C. Tropf, Michael Lucht, Susan M. Ring, Elizabeth A. Streeten, Reinhold Schmidt, Augustine Kong, Johann Willeit, Patricia A. Peyser, Jessica D. Faul, Patrik K. E. Magnusson, Tõnu Esko, Antonietta Robino, Lavinia Paternoster, Peter J. van der Most, Kumar B. Rajan, George Davey-Smith, Dragana Vuckovic, Hans J. Grabe, Jari Lahti, Giorgia Girotto, Jorge E. Chavarro, Robert F. Krueger, Hongyan Huang, Georg Homuth, Paolo Gasparini, Sarah E. Medland, Gert G. Wagner, Peter Kraft, André G. Uitterlinden, Cornelius A. Rietveld, Howard Andrews, Cecilia M. Lindgren, Peter Vollenweider, Perry, John [0000-0001-6483-3771], Zhao, Jing Hua [0000-0003-4930-3582], Luben, Robert [0000-0002-5088-6343], Ong, Kenneth [0000-0003-4689-7530], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, BARBAN N, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemaker, 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, BIOS Consortium, Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayer, 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 Conca, Heather J Cordell, Gail Davie, Peter Eibich, Nicholas Eriksson, Tõnu Esko, Joel Eriksson, Fahimeh Falahi, Janine F Felix, Mark Alan Fontana, Lude Franke, Ilaria Gandin, Audrey J Gaskin, 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 Medden, Evelin Mihailov, Mike Miller, Stacey A Missmer, Claire Monnereau, Peter J van der Most, Ronny Myhre, Mike A Nall, Teresa Nutile, Ioanna Panagiota Kalafati, Eleonora Porcu, Inga Prokopenko, Kumar B Rajan, Janet Rich-Edward, 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 Tönje, 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 Andrew, 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 Dedoussi, Panos Delouka, Cornelia M van Duijn, Eco J C de Geu, Johan G Eriksson, Denis A Evan, 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 Harri, 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 Kovac, Florian Kronenberg, Zoltan Kutalik, Martina La Bianca, Genevieve Lachance, William G Iacono, Sandra Lai, Terho Lehtimäki, David C Liewald, LifeLines Cohort Study, Cecilia M Lindgren, Yongmei Liu, Robert Luben, Michael Lucht, Riitta Luoto, Per Magnu, 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, Barban, N, Jansen, R, de Vlaming, R, Vaez, A, Mandemakers, Jj, Tropf, Fc, Shen, X, Wilson, Jf, Chasman, Di, Nolte, Im, Tragante, V, van der Laan, Sw, Perry, Jr, Kong, A, Ahluwalia, T, Albrecht, E, Yerges Armstrong, L, Atzmon, G, Auro, K, Ayers, K, Bakshi, A, Ben Avraham, D, Berger, K, Bergman, A, Bertram, L, Bielak, Lf, Bjornsdottir, G, Bonder, Mj, Broer, L, Bui, M, Barbieri, CATERINA MARIA, Cavadino, A, Chavarro, Je, Turman, C, Concas, MARIA PINA, Cordell, Hj, Davies, G, Eibich, P, Eriksson, N, Esko, T, Eriksson, J, Falahi, F, Felix, Jf, Fontana, Ma, Franke, L, Gandin, Ilaria, Gaskins, Aj, Gieger, C, Gunderson, Ep, Guo, X, Hayward, C, He, C, Hofer, E, Huang, H, Joshi, Pk, Kanoni, S, Karlsson, R, Kiechl, S, Kifley, A, Kluttig, A, Kraft, P, Lagou, V, Lecoeur, C, Lahti, J, Li Gao, R, Lind, Pa, Liu, T, Makalic, E, Mamasoula, C, Matteson, L, Mbarek, H, Mcardle, Pf, Mcmahon, G, Meddens, Sf, Mihailov, E, Miller, M, Missmer, Sa, Monnereau, C, van der Most, Pj, Myhre, R, Nalls, Ma, Nutile, T, Kalafati, Ip, Porcu, E, Prokopenko, I, Rajan, Kb, Rich Edwards, J, Rietveld, Ca, Robino, Antonietta, Rose, Lm, Rueedi, R, Ryan, Ka, Saba, Y, Schmidt, D, Smith, Ja, Stolk, L, Streeten, E, Tönjes, A, Thorleifsson, G, Ulivi, Sheila, Wedenoja, J, Wellmann, J, Willeit, P, Yao, J, Yengo, L, Zhao, Jh, Zhao, W, Zhernakova, Dv, Amin, N, Andrews, H, Balkau, B, Barzilai, N, Bergmann, S, Biino, G, Bisgaard, H, Bønnelykke, K, Boomsma, Di, Buring, Je, Campbell, H, Cappellani, Stefania, Ciullo, M, Cox, Sr, Cucca, F, Toniolo, D, Davey Smith, G, Deary, Ij, Dedoussis, G, Deloukas, P, van Duijn, Cm, de Geus, Ej, Eriksson, Jg, Evans, Da, Faul, Jd, Sala, Cf, Froguel, P, Gasparini, Paolo, Girotto, Giorgia, Grabe, Hj, Greiser, Kh, Groenen, Pj, de Haan, Hg, Haerting, J, Harris, Tb, Heath, Ac, Heikkilä, K, Hofman, A, Homuth, G, Holliday, Eg, Hopper, J, Hyppönen, E, Jacobsson, B, Jaddoe, Vw, Johannesson, M, Jugessur, A, Kähönen, M, Kajantie, E, Kardia, Sl, Keavney, B, Kolcic, I, Koponen, P, Kovacs, P, Kronenberg, F, Kutalik, Z, LA BIANCA, Martina, Lachance, G, Iacono, Wg, Lai, S, Lehtimäki, T, Liewald, Dc, Lindgren, Cm, Liu, Y, Luben, R, Lucht, M, Luoto, R, Magnus, P, Magnusson, Pk, Martin, Ng, Mcgue, M, Mcquillan, R, Medland, Se, Meisinger, C, Mellström, D, Metspalu, A, Traglia, Michela, Milani, L, Mitchell, P, Montgomery, Gw, Mook Kanamori, D, de Mutsert, R, Nohr, Ea, Ohlsson, C, Olsen, J, Ong, Kk, Paternoster, L, Pattie, A, Penninx, Bw, Perola, M, Peyser, Pa, Pirastu, M, Polasek, O, Power, C, Kaprio, J, Raffel, Lj, Räikkönen, K, Raitakari, O, Ridker, Pm, Ring, Sm, Roll, K, Rudan, I, Ruggiero, D, Rujescu, D, Salomaa, V, Schlessinger, D, Schmidt, H, Schmidt, R, Schupf, N, Smit, J, Sorice, R, Spector, Td, Starr, Jm, Stöckl, D, Strauch, K, Stumvoll, M, Swertz, Ma, Thorsteinsdottir, U, Thurik, Ar, Timpson, Nj, Tung, Jy, Uitterlinden, Ag, Vaccargiu, S, Viikari, J, Vitart, V, Völzke, H, Vollenweider, P, Vuckovic, Dragana, Waage, J, Wagner, Gg, Wang, Jj, Wareham, Nj, Weir, Dr, Willemsen, G, Willeit, J, Wright, Af, Zondervan, Kt, Stefansson, K, Krueger, Rf, Lee, Jj, Benjamin, Dj, Cesarini, D, Koellinger, Pd, den Hoed, M, Snieder, H, Mills, Mc, Sociology/ICS, Life Course Epidemiology (LCE), Isotope Research, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Barban, Nicola, Jansen, Rick, De Vlaming, Ronald, Vaez, Ahmad, Hyppönen, Elina, Mills, Melinda C, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, EMGO - Mental health, Applied Economics, Public Health, Internal Medicine, Erasmus MC other, Epidemiology, Econometrics, Pediatrics, EMGO+ - Lifestyle, Overweight and Diabetes, Complex Trait Genetics, and Biological Psychology
Subjects: 0301 basic medicine, Netherlands Twin Register (NTR), PROTEIN, WASS, Genome-wide association study, Reproductive Behavior, MOUSE, Genome-wide association studies, GWAS, reproductive behavior, fertility, 0302 clinical medicine, G1 PHASE, Pregnancy, Genetics & Heredity, Genetics, HUMAN-DISEASES, Reproduction, Human Reproduction, 11 Medical And Health Sciences, ASSOCIATION, Genome-Wide, POLYCYSTIC-OVARY-SYNDROME, Sociologie van Consumptie en Huishoudens, Parity, Phenotype, Behavioural genetics, Medical genetics, Female, BIOS Consortium, FOS: Medical biotechnology, Life Sciences & Biomedicine, Maternal Age, Infertility, medicine.medical_specialty, GENE PRIORITIZATION, Quantitative Trait Loci, Sociology of Consumption and Households, Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, AGE, QUALITY-CONTROL, medicine, Journal Article, Life Science, SNP, Humans, gene, reproductive, behaviour, Science & Technology, ta1184, 06 Biological Sciences, medicine.disease, Genetic architecture, human reproductive behavior, 030104 developmental biology, Fertility, Human genome, Birth Order, 030217 neurology & neurosurgery, LifeLines Cohort Study, Developmental Biology, genome-wide analysis, Genome-Wide Association Study
Abstract: Barban N, Jansen R, de Vlaming R, Vaez A, Mandemakers JJ, Tropf FC, Shen X, Wilson JF, Chasman DI, Nolte IM, Tragante V, van der Laan SW, Perry JR, Kong A; BIOS Consortium, Ahluwalia TS, Albrecht E, Yerges-Armstrong L, Atzmon G, Auro K, Ayers K, Bakshi A, Ben-Avraham D, Berger K, Bergman A, Bertram L, Bielak LF, Bjornsdottir G, Bonder MJ, Broer L, Bui M, Barbieri C, Cavadino A, Chavarro JE, Turman C, Concas MP, Cordell HJ, Davies G, Eibich P, Eriksson N, Esko T, Eriksson J, Falahi F, Felix JF, Fontana MA, Franke L, Gandin I, Gaskins AJ, Gieger C, Gunderson EP, Guo X, Hayward C, He C, Hofer E, Huang H, Joshi PK, Kanoni S, Karlsson R, Kiechl S, Kifley A, Kluttig A, Kraft P, Lagou V, Lecoeur C, Lahti J, Li-Gao R, Lind PA, Liu T, Makalic E, Mamasoula C, Matteson L, Mbarek H, McArdle PF, McMahon G, Meddens SF, Mihailov E, Miller M, Missmer SA, Monnereau C, van der Most PJ, Myhre R, Nalls MA, Nutile T, Kalafati IP, Porcu E, Prokopenko I, Rajan KB, Rich-Edwards J, Rietveld CA, Robino A, Rose LM, Rueedi R, Ryan KA, Saba Y, Schmidt D, Smith JA, Stolk L, Streeten E, Tönjes A, Thorleifsson G, Ulivi S, Wedenoja J, Wellmann J, Willeit P, Yao J, Yengo L, Zhao JH, Zhao W, Zhernakova DV, Amin N, Andrews H, Balkau B, Barzilai N, Bergmann S, Biino G, Bisgaard H, Bønnelykke K, Boomsma DI, Buring JE, Campbell H, Cappellani S, Ciullo M, Cox SR, Cucca F, Toniolo D, Davey-Smith G, Deary IJ, Dedoussis G, Deloukas P, van Duijn CM, de Geus EJ, Eriksson JG, Evans DA, Faul JD, Sala CF, Froguel P, Gasparini P, Girotto G, Grabe HJ, Greiser KH, Groenen PJ, de Haan HG, Haerting J, Harris TB, Heath AC, Heikkilä K, Hofman A, Homuth G, Holliday EG, Hopper J, Hyppönen E, Jacobsson B, Jaddoe VW, Johannesson M, Jugessur A, Kähönen M, Kajantie E, Kardia SL, Keavney B, Kolcic I, Koponen P, Kovacs P, Kronenberg F, Kutalik Z, La Bianca M, Lachance G, Iacono WG, Lai S, Lehtimäki T, Liewald DC; LifeLines Cohort Study, Lindgren CM, Liu Y, Luben R, Lucht M, Luoto R, Magnus P, Magnusson PK, Martin NG, McGue M, McQuillan R, Medland SE, Meisinger C, Mellström D, Metspalu A, Traglia M, Milani L, Mitchell P, Montgomery GW, Mook-Kanamori D, de Mutsert R, Nohr EA, Ohlsson C, Olsen J, Ong KK, Paternoster L, Pattie A, Penninx BW, Perola M, Peyser PA, Pirastu M, Polasek O, Power C, Kaprio J, Raffel LJ, Räikkönen K, Raitakari O, Ridker PM, Ring SM, Roll K, Rudan I, Ruggiero D, Rujescu D, Salomaa V, Schlessinger D, Schmidt H, Schmidt R, Schupf N, Smit J, Sorice R, Spector TD, Starr JM, Stöckl D, Strauch K, Stumvoll M, Swertz MA, Thorsteinsdottir U, Thurik AR, Timpson NJ, Tung JY, Uitterlinden AG, Vaccargiu S, Viikari J, Vitart V, Völzke H, Vollenweider P, Vuckovic D, Waage J, Wagner GG, Wang JJ, Wareham NJ, Weir DR, Willemsen G, Willeit J, Wright AF, Zondervan KT, Stefansson K, Krueger RF, Lee JJ, Benjamin DJ, Cesarini D, Koellinger PD, den Hoed M, Snieder H, Mills MC.
Published: 2016

16. Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

Author: Nicholas J. Timpson, Stephen Richmond, Beate St Pourcain, Lavinia Paternoster, David M. Evans, Wendy L. McArdle, John P. Kemp, Arshed M. Toma, George McMahon, George Davey Smith, Susan M. Ring, and Alexei I. Zhurov
Subjects: Male, Longitudinal study, Adolescent, Genotype, Population, Genome-wide association study, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Facial Bones, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Imaging, Three-Dimensional, Pregnancy, Report, medicine, Genetics, Humans, Paired Box Transcription Factors, Nasal Bone, Waardenburg Syndrome, Genetics(clinical), Longitudinal Studies, Allele, Craniofacial, 10. No inequality, education, PAX3 Transcription Factor, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, education.field_of_study, Waardenburg syndrome, 030206 dentistry, medicine.disease, medicine.anatomical_structure, Phenotype, Nasion, Female, Genome-Wide Association Study
Abstract: Craniofacial morphology is highly heritable, but little is known about which genetic variants influence normal facial variation in the general population. We aimed to identify genetic variants associated with normal facial variation in a population-based cohort of 15-year-olds from the Avon Longitudinal Study of Parents and Children. 3D high-resolution images were obtained with two laser scanners, these were merged and aligned, and 22 landmarks were identified and their x, y, and z coordinates used to generate 54 3D distances reflecting facial features. 14 principal components (PCs) were also generated from the landmark locations. We carried out genome-wide association analyses of these distances and PCs in 2,185 adolescents and attempted to replicate any significant associations in a further 1,622 participants. In the discovery analysis no associations were observed with the PCs, but we identified four associations with the distances, and one of these, the association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 × 10(-7)). In a combined analysis, each G allele of rs7559271 was associated with an increase in n-men distance of 0.39 mm (p = 4 × 10(-16)), explaining 1.3% of the variance. Independent associations were observed in both the z (nasion prominence) and y (nasion height) dimensions (p = 9 × 10(-9) and p = 9 × 10(-10), respectively), suggesting that the locus primarily influences growth in the yz plane. Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. Our findings show that common variants within this gene also influence normal craniofacial development.
Published: 2012
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17. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author: Dorret I. Boomsma, Arn M. J. M. van den Maagdenberg, Kai-How Farh, Linda M. Pedersen, Evelin Mihailov, Lydia Quaye, Bertram Müller-Myhsok, Zameel M. Cader, David A. Hinds, Albert Hofman, George McMahon, Lynn Cherkas, Andrea Byrnes, Christopher Sivert Nielsen, Priit Palta, Kauko Heikkilä, Lili Milani, Caleb Webber, Elizabeth Loehrer, Maija Wessman, Stacy Steinberg, Stefan Schreiber, John-Anker Zwart, Nicholas A. Furlotte, Nicholas G. Martin, Paul M. Ridker, Nicholas Eriksson, André G. Uitterlinden, M. Arfan Ikram, Anine H. Stam, Audun Stubhaug, Hieab H.H. Adams, Markus Färkkilä, Verneri Anttila, Antti-Pekka Sarin, Salli Vepsäläinen, Jouke-Jan Hottenga, Pamela A. F. Madden, Andrew C. Heath, Brenda W.J.H. Penninx, Tobias Kurth, Ester Cuenca-León, Kari Stefansson, Veikko Salomaa, Dale R. Nyholt, Jaakko Kaprio, Andrea Carmine Belin, Tune H. Pers, Cynthia Sandor, Eija Hamalainen, Hailiang Huang, Lude Franke, Jie Huang, George Davey Smith, Jes Olesen, Anne Francke Christensen, Juho Wedenoja, Tobias Freilinger, Scott G. Gordon, Mari A. Kaunisto, Hreinn Stefansson, Guntram Borck, Maria Gudlaug Hrafnsdottir, David P. Strachan, Ville Artto, Johan G. Eriksson, Minna Männikkö, Evie Stergiakouli, Thomas Meitinger, Markus Schürks, Olli T. Raitakari, Arpo Aromaa, Mark J. Daly, Marjo-Riitta Järvelin, Andres Ingason, Martin Dichgans, Tim D. Spector, Cornelia M. van Duijn, Mikko Muona, Daniel I. Chasman, Hartmut Göbel, Andres Metspalu, Aarno Palotie, Michel D. Ferrari, Grant W. Montgomery, Susan M. Ring, Caroline Ran, Thomas Werge, Lannie Ligthart, Terho Lehtimäki, Julie E. Buring, Christian Kubisch, Mikko Kallela, Phil Lee, Ann-Louise Esserlind, Bendik S. Winsvold, Markku Koiranen, Benjamin M. Neale, Tõnu Esko, Rainer Malik, Gisela M. Terwindt, Thomas Hansen, and Padhraig Gormley
Subjects: Subset Analysis, Genetics, 0303 health sciences, Aura, Single-nucleotide polymorphism, Locus (genetics), Disease, Biology, medicine.disease, Migraine with aura, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Migraine, Meta-analysis, medicine, medicine.symptom, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: Migraine is a debilitating neurological disorder affecting around 1 in 7 people worldwide, but its molecular mechanisms remain poorly understood. Some debate exists over whether migraine is a disease of vascular dysfunction, or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association (GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we performed the largest genetic study of migraine to date, comprising 59,674 cases and 316,078 controls from 22 GWA studies. We identified 45 independent single nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 x 10-8) that map to 38 distinct genomic loci, including 28 loci not previously reported and the first locus identified on chromosome X. Furthermore, a subset analysis for migraine without aura (MO) identified seven of the same loci as from the full sample, whereas no loci reached genome-wide significance in the migraine with aura (MA) subset. In subsequent computational analyzes, the identified loci showed enrichment for genes expressed in vascular and smooth muscle tissues, consistent with a predominant theory of migraine that highlights vascular etiologies.
Published: 2015
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18. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

Author: Virpi Lindi, Clare S. Murray, Liming Liang, Wieland Kiess, Philippe Froguel, Tarunveer S. Ahluwalia, Hakon Hakonarson, Dorret I. Boomsma, Pitkänen Niina Pitkänen, Romy Gaillard, Mandy Geserick, John A. Curtin, Shana E. McCormack, Niinikoski Harri, Jens-Christian Holm, Vicente Gilsanz, Ville Huikari, Maties Torrent, Nicholas J. Timpson, George Dedoussis, Angela Simpson, Struan F.A. Grant, Klaus Bønnelykke, Anubha Mahajan, George McMahon, Raimo Joro, Christel M. Middeldorp, Johan G. Eriksson, Vilor-Tejedor Natalia Vilor-Tejedor, Gerard H. Koppelman, Frank Geller, Amélie Bonnefond, Hanna Maaria Lakka, Jinyan Huang, Craig E. Pennell, Johannes Waage, Jane Wardle, Torben Hansen, Olli T. Raitakari, John A. Shepherd, Lisbeth Carstensen, Andrea Kelly, Katja Pahkala, Jordi Sunyer, Claire M. A. Haworth, Per Magnus, Juan R. González, Babette S. Zemel, Mads Melbye, Steve Franks, Carla M. T. Tiesler, Roland Pfäffle, Momoko Horikoshi, Susan M. Ring, Adnan Custovic, Claudia Flexeder, Claire Monnereau, Heidi J. Kalkwarf, Janine F. Felix, Julie A. Marsh, Thorkild I. A. Sørensen, André G. Uitterlinden, Mustafa Atalay, Jouke-Jan Hottenga, Mark I. McCarthy, Joel N. Hirschhorn, Niels Grarup, Lude Franke, Diana L. Cousminer, Timo A. Lakka, Robert Plomin, Ronny Myhre, Albert Hofman, Baoshan Ma, Eskil Kreiner-Møller, Jesús Vioque, Vincent W. V. Jaddoe, Hans Bisgaard, Bjarke Feenstra, Sylvain Sebert, Evie Stergiakouli, Eleftheria Zeggini, Joachim Heinrich, Bo Jacobsson, Tune H. Pers, Dirkje S. Postma, Elina Hyppönen, Loic Yengo, Haja N. Kadarmideen, Alana Cavadino, Jonathan P. Bradfield, Elisabeth Thiering, Ralf J. P. van der Valk, George Davey Smith, Alexandra I. F. Blakemore, Christine Power, Marjo-Riitta Järvelin, Wei Ang, Ioanna Ntalla, Sharon E. Oberfield, Fernando Rivadeneira, Rebecca K. Vinding, Alexandra M. Lewin, Mika Kähönen, Verena Sengpiel, Maria M. Groen-Blokhuis, Anna-Liisa Hartikainen, Antje Körner, Oluf Pedersen, Joyce B. J. van Meurs, Alessandra Chesi, Widén Elisabeth Widén, Terho Lehtimäki, Thomas S. Price, Frank D. Mentch, Joan M. Lappe, Leo-Pekka Lyytikäinen, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Early Growth Genetics (EGG) Consortium, Bone Mineral Density in Childhood Study (BMDCS), Early Genetics and Lifecourse Epidemiology (EAGLE) consortium, Felix, Janine F, Bradfield, Jonathan P, Monnereau, Claire, van der Valk, Ralf JP, Hypponen, Elina, Jaddoe, Vincent WV, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Erasmus MC other, Epidemiology, Pediatrics, Child and Adolescent Psychiatry / Psychology, Internal Medicine, and Public Health
Subjects: 0301 basic medicine, Netherlands Twin Register (NTR), Male, ADAM23, Genome-wide association study, VARIANTS, ENVIRONMENTAL-FACTORS, Body Mass Index, Child, Genetics (clinical), 2. Zero hunger, Genetics, education.field_of_study, Association Studies Articles, General Medicine, INSIGHTS, Child, Preschool, Female, childhood obesity, EXPRESSION, Adult, Risk, Adolescent, Population, body mass index, Single-nucleotide polymorphism, Biology, ta3111, Polymorphism, Single Nucleotide, Childhood obesity, White People, 03 medical and health sciences, Young Adult, children, SDG 3 - Good Health and Well-being, medicine, Humans, Obesity, Allele, education, Molecular Biology, METAANALYSIS, Genetic association, FAT DISTRIBUTION, ta3121, medicine.disease, ta3123, GENE, 030104 developmental biology, Genetic Loci, WEIGHT, Body mass index, Genome-Wide Association Study
Abstract: A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5 × 10−8) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity. We identified three novel loci: rs13253111 near ELP3, rs8092503 near RAB27B and rs13387838 near ADAM23. Per additional risk allele, body mass index increased 0.04 Standard Deviation Score (SDS) [Standard Error (SE) 0.007], 0.05 SDS (SE 0.008) and 0.14 SDS (SE 0.025), for rs13253111, rs8092503 and rs13387838, respectively. A genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10−10) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index. Refereed/Peer-reviewed
Published: 2015

19. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Author: Paul Mitchell, Arne Schillert, Tanja Zeller, Beate St Pourcain, Yi Lu, Christopher J Hammond, Nicholas G. Martin, René Höhn, Veluchamy A Barathi, Terri L. Young, Johannes R. Vingerling, Mario Pirastu, Veronique Vitart, André G. Uitterlinden, Virginie J. M. Verhoeven, Federico Murgia, Xin Zhou, Pirro G. Hysi, Christian Gieger, Jeremy A. Guggenheim, Robert Wojciechowski, Paul G. Sanfilippo, Alireza Mirshahi, Caroline Hayward, Terho Lehtimäki, Phillippa M. Cumberland, Caroline C W Klaver, Konrad Oexle, Tin Aung, Alan F. Wright, Eranga N. Vithana, Paul N. Baird, Qiao Fan, Ching-Yu Cheng, Andrew D. Paterson, Joan E. Bailey-Wilson, Thomas Meitinger, Mohammad Kamran Ikram, Janina S. Ried, Youchan Shin, Albert Hofman, David A. Mackey, Lennart C. Karssen, James F. Wilson, George McMahon, Najaf Amin, Ben A. Oostra, Brian W Fleck, Tien Yin Wong, Olavi Pärssinen, Cathy Williams, Kari-Matti Mäkelä, Kumari Neelam, Rosalynn Siantar, Yik Ying Teo, Alex W. Hewitt, Hoi Suen Wong, Olli T. Raitakari, Seyhan Yazar, Barbara E.K. Klein, Janice Lam, Shea Ping Yip, Ekaterina Yonova-Doing, Chiea Chuen Khor, Maurice Yap, David M. Evans, Harry Campbell, Goran Benčić, Jost B. Jonas, Yingfeng Zheng, Cristina Venturini, Claire L. Simpson, S. Mohsen Hosseini, Dwight Stambolian, E. Shyong Tai, Fernando Rivadeneira, Juho Wedenoja, John P. Kemp, Stuart MacGregor, Qing Li, Cornelia M. van Duijn, Ozren Polasek, Mika Kähönen, Ya Xing Wang, Kate Northstone, Jugnoo S Rahi, Seang-Mei Saw, Karl J. Lackner, Nicholas J. Timpson, Ophthalmology, Erasmus MC other, Epidemiology, Internal Medicine, Clinical Genetics, Department of Public Health, and Silmäklinikka
Subjects: Male, Refractive error, BLUE MOUNTAINS EYE, CORNEAL ASTIGMATISM, Spherical equivalent, Genome-wide association study, astigmatism, gene, SNP, DISEASE, Cohort Studies, 0302 clinical medicine, Statistics, Genetics(clinical), Neural Cell Adhesion Molecules, POPULATION, Genetics (clinical), Original Investigation, Genetics, 0303 health sciences, education.field_of_study, Age Factors, High Mobility Group Proteins, Middle Aged, 3142 Public health care science, environmental and occupational health, 3. Good health, Female, OPEN-ANGLE GLAUCOMA, Adult, Genetic Markers, EXPERIMENTALLY-INDUCED MYOPIA, Keratoconus, SUSCEPTIBILITY LOCI, Cell Adhesion Molecules, Neuronal, education, Population, Nerve Tissue Proteins, Astigmatism, Biology, White People, 03 medical and health sciences, AGE, Asian People, MAJOR LOCUS, medicine, Humans, 3125 Otorhinolaryngology, ophthalmology, 030304 developmental biology, Genetic association, Calcium-Binding Proteins, Heritability, medicine.disease, NONCODING RNAS, 030221 ophthalmology & optometry, Genome-Wide Association Study
Abstract: To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged
Published: 2015

20. Genome-wide association study of blood lead shows multiple associations near ALAD

Author: Colin D Steer, Nicholas J. Timpson, Nicholas G. Martin, Caroline M Taylor, Nicole M. Warrington, George McMahon, Grant W. Montgomery, Andrew C. Heath, Gibran Hemani, Debbie A Lawlor, David M. Evans, Gu Zhu, John Whitfield, John P. Kemp, Pamela A. F. Madden, Jean Golding, Veronica Dy, George Davey Smith, and Beate St Pourcain
Subjects: Adult, Male, Genotype, Population, Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, ABO blood group system, Genetic variation, Genetics, Humans, Allele, education, Molecular Biology, Genetics (clinical), Genetic association, education.field_of_study, Association Studies Articles, Australia, Porphobilinogen Synthase, General Medicine, Environmental exposure, United Kingdom, Lead, Female, Genome-Wide Association Study
Abstract: Exposure to high levels of environmental lead, or biomarker evidence of high body lead content, is associated with anaemia, developmental and neurological deficits in children, and increased mortality in adults. Adverse effects of lead still occur despite substantial reduction in environmental exposure. There is genetic variation between individuals in blood lead concentration but the polymorphisms contributing to this have not been defined. We measured blood or erythrocyte lead content, and carried out genome-wide association analysis, on population-based cohorts of adult volunteers from Australia and UK (N = 5433). Samples from Australia were collected in two studies, in 1993-1996 and 2002-2005 and from UK in 1991-1992. One locus, at ALAD on chromosome 9, showed consistent association with blood lead across countries and evidence for multiple independent allelic effects. The most significant single nucleotide polymorphism (SNP), rs1805313 (P = 3.91 × 10(-14) for lead concentration in a meta-analysis of all data), is known to have effects on ALAD expression in blood cells but other SNPs affecting ALAD expression did not affect blood lead. Variants at 12 other loci, including ABO, showed suggestive associations (5 × 10(-6) > P > 5 × 10(-8)). Identification of genetic polymorphisms affecting blood lead reinforces the view that genetic factors, as well as environmental ones, are important in determining blood lead levels. The ways in which ALAD variation affects lead uptake or distribution are still to be determined.
Published: 2015

21. Phenotype refinement strengthens the association of AHR and CYP1A1 genotype with caffeine consumption

Author: George McMahon, Amy E Taylor, Marcus R. Munafò, and George Davey Smith
Subjects: Adult, Longitudinal study, Genotype, Epidemiology, Drinking Behavior, lcsh:Medicine, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Polymorphism (computer science), Caffeine, Surveys and Questionnaires, Epidemiological Statistics, Mendelian randomization, Basic Helix-Loop-Helix Transcription Factors, Cytochrome P-450 CYP1A1, Medicine and Health Sciences, Humans, Longitudinal Studies, 030212 general & internal medicine, Allele, lcsh:Science, Life Style, 030304 developmental biology, Genetics, Consumption (economics), 0303 health sciences, Multidisciplinary, Confounding, lcsh:R, Genetic Variation, Phenotype, Receptors, Aryl Hydrocarbon, chemistry, Genetic Epidemiology, Epidemiological Methods and Statistics, Female, lcsh:Q, Self Report, Research Article, Demography
Abstract: Two genetic loci, one in the cytochrome P450 1A1 (CYP1A1) and 1A2 (CYP1A2) gene region (rs2472297) and one near the aryl-hydrocarbon receptor (AHR) gene (rs6968865), have been associated with habitual caffeine consumption. We sought to establish whether a more refined and comprehensive assessment of caffeine consumption would provide stronger evidence of association, and whether a combined allelic score comprising these two variants would further strengthen the association. We used data from between 4,460 and 7,520 women in the Avon Longitudinal Study of Parents and Children, a longitudinal birth cohort based in the United Kingdom. Self-report data on coffee, tea and cola consumption (including consumption of decaffeinated drinks) were available at multiple time points. Both genotypes were individually associated with total caffeine consumption, and with coffee and tea consumption. There was no association with cola consumption, possibly due to low levels of consumption in this sample. There was also no association with measures of decaffeinated drink consumption, indicating that the observed association is most likely mediated via caffeine. The association was strengthened when a combined allelic score was used, accounting for up to 1.28% of phenotypic variance. This was not associated with potential confounders of observational association. A combined allelic score accounts for sufficient phenotypic variance in caffeine consumption that this may be useful in Mendelian randomization studies. Future studies may therefore be able to use this combined allelic score to explore causal effects of habitual caffeine consumption on health outcomes.
Published: 2014

22. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

Author: Magnus Johannesson, André G. Uitterlinden, Cornelius A. Rietveld, Nicholas J. Timpson, Sarah E. Medland, Tõnu Esko, Beben Benyamin, Ian J. Deary, Sven J. van der Lee, Christiaan de Leeuw, Nicholas G. Martin, Matt McGue, Cornelia M. van Duijn, David C. Liewald, Patrick Turley, Nancy L. Pedersen, Paul Lichtenstein, Jaime Derringer, Frank C. Verhulst, James J. Lee, Carla A. Ibrahim-Verbaas, Dalton Conley, Philipp Koellinger, John M. Starr, Tune H. Pers, Christopher F. Chabris, David Cesarini, David Laibson, Edward L. Glaeser, Najaf Amin, Olga Rostapshova, Maciej Trzaskowski, Juha Karjalainen, Mary E. Ward, Caroline Hayward, Valur Emilsson, Patrik K. E. Magnusson, Henning Tiemeier, Daniel J. Benjamin, Robert Plomin, David J. Porteous, George Davey Smith, Michael B. Miller, Margaret J. Wright, Fernando Rivadeneira, Vincent W. V. Jaddoe, Anna A. E. Vinkhuyzen, William G. Iacono, Lude Franke, Peter M. Visscher, Rudolf S N Fehrmann, Gail Davies, Andrew D. Johnson, Steven Pinker, Riccardo E. Marioni, Blair H. Smith, George McMahon, Danielle Posthuma, Narelle K. Hansell, Human genetics, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Functional Genomics, Complex Trait Genetics, Tinbergen Institute, Amsterdam Neuroscience - Complex Trait Genetics, Rietveld, Cornelius A, Esko, Tõnu, Davies, Gail, Pers, Tune H, Benyamin, Beben, Koellinger, Philipp D, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Entrepreneurship & Innovation (ABS, FEB), Epidemiology, Erasmus MC other, Child and Adolescent Psychiatry / Psychology, and Internal Medicine
Subjects: Male, Multifactorial Inheritance, Cell Adhesion Molecules, Neuronal, LOCI, Social Sciences, Single-nucleotide polymorphism, Genome-wide association study, INTELLIGENCE, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Synaptic Transmission, Corrections, Cognition, Memory, medicine, ACADEMIC-ACHIEVEMENT, Dementia, GWAS, Humans, Learning, Effects of sleep deprivation on cognitive performance, GENOME-WIDE ASSOCIATION, Neural Cell Adhesion Molecules, Genetics, Multidisciplinary, Neuronal Plasticity, proxy-phenotype method, Memoria, COMPONENTS, Calcium-Binding Proteins, medicine.disease, Multiple comparisons problem, Octamer Transcription Factors, Female, SDG 4 - Quality Education
Abstract: We identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxyphenotype method. First, we conduct a genome-wide association study of educational attainment in a large sample (n = 106,736), which produces a set of 69 education-associated SNPs. Second, using independent samples (n = 24,189), we measure the association of these education-associated SNPs with cognitive performance. Three SNPs (rs1487441, rs7923609, and rs2721173) are significantly associated with cognitive performance after correction for multiple hypothesis testing. In an independent sample of older Americans (n = 8,652), we also show that a polygenic score derived from the education-associated SNPs is associated with memory and absence of dementia. Convergent evidence from a set of bioinformatics analyses implicates four specific genes (KNCMA1, NRXN1, POU2F3, and SCRT). All of these genes are associated with a particular neurotransmitter pathway involved in synaptic plasticity, the main cellular mechanism for learning and memory. Refereed/Peer-reviewed
Published: 2014

23. Genome-wide meta-analysis identifies new susceptibility loci for migraine

Author: M. Arfan Ikram, Lydia Quaye, Michael Alexander, Maija Wessman, Jacqueline M. Vink, Unda Todt, Andrew C. Heath, Ian Dunham, Brenda W. J. H. Penninx, Paul M. Ridker, Frances M K Williams, Claudia M Weller, Arn M. J. M. van den Maagdenberg, Markus Färkkilä, Boukje de Vries, Julie E. Buring, Priit Palta, Nicholas G. Martin, Guntram Borck, Anna-Liisa Hartikainen, Lynda M. Rose, Francesco Bettella, Hartmut Goebel, Anneli Pouta, Jaakko Kaprio, Martin Dichgans, Nadine Pelzer, Albert Hofman, Dorret I. Boomsma, Mikko Kallela, George McMahon, Ronald Zielman, J. Raphael Gibbs, Cornelia M. van Duijn, Joyce van den Ende, Rainer Malik, Gisela M. Terwindt, Mari A. Kaunisto, Tobias Kurth, Thomas Meitinger, Bryan J. Traynor, Ewan Birney, Bendik S. Winsvold, Aarno Palotie, Lynn Cherkas, Jean Schoenen, Wendy L. McArdle, Markku Koiranen, Padhraig Gormley, Anine H. Stam, Heinz Erich Wichmann, Michel D. Ferrari, Elizabeth J. Rossin, Eija Hamalainen, Daniel I. Chasman, Juho Wedenoja, Mark J. Daly, Najaf Amin, Sarah E. Medland, Susan M. Ring, Stefan Schreiber, Dale R. Nyholt, Pamela A. F. Madden, Jouke-Jan Hottenga, Kari Stefansson, Bertram Müller-Myhsok, Grant W. Montgomery, André G. Uitterlinden, Arpo Aromaa, Lannie Ligthart, Verneri Anttila, Rune R. Frants, Terho Lehtimäki, Marjo-Riitta Järvelin, Benjamin M. Neale, Kauko Heikkilä, Stacy Steinberg, Daniah Trabzuni, Debbie A Lawlor, John-Anker Zwart, Axel Heinze, Ville Artto, Christian Kubisch, Kasper Lage, David M. Evans, George Davey Smith, Finnbogi Jakobsson, Tobias Freilinger, Suzanne B.R. Jacobs, Johan G. Eriksson, Olli T. Raitakari, David P. Strachan, Katja Heinze-Kuhn, Hreinn Stefansson, Markus Schuerks, Radiology & Nuclear Medicine, Internal Medicine, Cardiology, Epidemiology, Hematology, Medical Research Council (MRC), EMGO+ - Mental Health, Biological Psychology, EMGO - Mental health, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, and Psychiatry
Subjects: Netherlands Twin Register (NTR), Candidate gene, DOWN-REGULATION, Medizin, PROTEIN, Genome-wide association study, North American Brain Expression Consortium, Genome, TRANSFORMING-GROWTH-FACTOR, 0302 clinical medicine, Polymorphism (computer science), Cerebellum, 11 Medical and Health Sciences, POPULATION, Genetics & Heredity, Genetics, 0303 health sciences, education.field_of_study, SDG 10 - Reduced Inequalities, ASSOCIATION, HUMAN-DISEASE, FAMILY, Frontal Lobe, Life Sciences & Biomedicine, EXPRESSION, GENES, Migraine Disorders, Population, Quantitative Trait Loci, Biology, Quantitative trait locus, NEURITE OUTGROWTH, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, UK Brain Expression Consortium, Humans, Genetic Predisposition to Disease, education, PROTEOLYSIS, 030304 developmental biology, Genetic association, Science & Technology, LEWIS(X), MUTATIONS, Computational Biology, 06 Biological Sciences, ta3121, Genetic Loci, Expression quantitative trait loci, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
Abstract: Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P
Published: 2013

24. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Author: Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey-Wilson, Beate St. Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F. Wright, Najaf Amin, Elisabeth M. van Leeuwen, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Kathryn P. Burdon, Jamie E. Craig, Sudha K. Iyengar, Robert P. Igo, Jonathan H. Lass, Emily Y. Chew, Toomas Haller, Evelin Mihailov, Andres Metspalu, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J. Lackner, Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie M. Williams, Ekaterina Yonova-Doing, Ronald Klein, Barbara E. Klein, S. Mohsen Hosseini, Andrew D. Paterson, Kari-Matti Makela, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice K.H. Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J. Foster, Jing Hua Zhao, Eranga Vithana, E-Shyong Tai, Qiao Fan, Liang Xu, Harry Campbell, Brian Fleck, Igor Rudan, Tin Aung, Albert Hofman, André G. Uitterlinden, Goran Bencic, Chiea-Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W. Hewitt, Cathy Williams, Ben A. Oostra, Yik-Ying Teo, Christopher J. Hammond, Dwight Stambolian, David A. Mackey, Caroline C.W. Klaver, Tien-Yin Wong, Seang-Mei Saw, Paul N. Baird, William Reinhart, Michael W. Belin, Robert L. Schultze, Todd Morason, Alan Sugar, Shahzad Mian, Hunson Kaz Soong, Kathryn Colby, Ula Jurkunas, Richard Yee, Mark Vital, Eduardo Alfonso, Carol Karp, Yunhee Lee, Sonia Yoo, Kristin Hammersmith, Elisabeth Cohen, Peter Laibson, Christopher Rapuano, Brandon Ayres, Christopher Croasdale, James Caudill, Sanjay Patel, Keith Baratz, William Bourne, Leo Maguire, Joel Sugar, Elmer Tu, Ali Djalilian, Vinod Mootha, James McCulley, Wayne Bowman, H. Dwight Cavanaugh, Steven Verity, David Verdier, Ann Renucci, Matt Oliva, Walter Rotkis, David R. Hardten, Ahmad Fahmy, Marlene Brown, Sherman Reeves, Elizabeth A. Davis, Richard Lindstrom, Scott Hauswirth, Stephen Hamilton, W. Barry Lee, Francis Price, Marianne Price, Kathleen Kelly, Faye Peters, Michael Shaughnessy, Thomas Steinemann, B.J. Dupps, David M. Meisler, Mark Mifflin, Randal Olson, Anthony Aldave, Gary Holland, Bartly J. Mondino, George Rosenwasser, Mark Gorovoy, Steven P. Dunn, David G. Heidemann, Mark Terry, Neda Shamie, Steven I. Rosenfeld, Brandon Suedekum, David Hwang, Donald Stone, James Chodosh, Paul G. Galentine, David Bardenstein, Katrina Goddard, Hemin Chin, Mark Mannis, Rohit Varma, Ingrid Borecki, Ophthalmology, Epidemiology, Internal Medicine, Clinical Genetics, Obstetrics & Gynecology, and Netherlands Institute for Neuroscience (NIN)
Subjects: Adult, Male, Refractive error, Adolescent, Gene Expression, Locus (genetics), Genome-wide association study, Biology, Ocular Axial Length, Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, 0302 clinical medicine, Asian People, SDG 3 - Good Health and Well-being, medicine, Genetics, Humans, GWAS, Genetic Predisposition to Disease, Genetics(clinical), RSPO1, Eye Proteins, Gene, Genetics (clinical), 030304 developmental biology, Genetic association, Aged, 0303 health sciences, ta1184, Heritability, Middle Aged, ta3121, medicine.disease, Refractive Errors, Axial Length, Eye, Genetic Loci, 030221 ophthalmology & optometry, Eye disorder, Female, Genome-Wide Association Study, Signal Transduction
Abstract: Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.
Published: 2013

25. Genome-wide association study identifies loci affecting blood copper, selenium and zinc

Author: John P. Kemp, George Davey Smith, Grant W. Montgomery, Andrew C. Heath, Veronica Dy, Beate St Pourcain, Debbie A Lawlor, Nicholas G. Martin, Pamela A. F. Madden, George McMahon, David M. Evans, Colin D Steer, John Whitfield, Gu Zhu, Jean Golding, and Nicholas J. Timpson
Subjects: Adult, Male, Erythrocytes, Genotype, chemistry.chemical_element, Single-nucleotide polymorphism, Locus (genetics), Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Cohort Studies, Selenium, Pregnancy, Genetic variation, Genetics, Chromosomes, Human, Humans, Longitudinal Studies, Allele, Molecular Biology, Gene, Genetics (clinical), Association Studies Articles, Australia, Chromosome, Genetic Variation, General Medicine, United Kingdom, Zinc, chemistry, Genetic Loci, Female, Copper, Genome-Wide Association Study
Abstract: Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).
Published: 2013

26. GWAS of 126559 Individuals Identifies Genetic Variants Associated with Educational Attainment

Author: Maria Dimitriou, Klaus Berger, Jian Yang, Nicholas J. Timpson, George Dedoussis, Magnus Johannesson, Igor Rudan, Marisa Loitfelder, Kurt Lohman, Jürgen Wellmann, Osorio Meirelles, Johan G. Eriksson, Cornelia M. van Duijn, Francesco Cucca, Anu Realo, Gérard Waeber, David R. Van Wagoner, Samuli Ripatti, Alan F. Wright, George McMahon, Elizabeth G. Holliday, Lili Milani, Ute Bültmann, Olli T. Raitakari, Behrooz Z. Alizadeh, Reinhold Schmidt, Matthew Kowgier, André G. Uitterlinden, Sutapa Mukherjee, William G. Iacono, Judith M. Vonk, Lude Franke, John M. Starr, Antonio Terracciano, Rudolf Ferhmann, Pamela A. F. Madden, Marika Kaakinen, Helena Schmidt, Dorret I. Boomsma, Harry Campbell, Konstantin Shakhbazov, Lei Yu, Albert Hofman, Tõnu Esko, Cornelius A. Rietveld, Albert V. Smith, Arpana Agrawal, Wouter J. Peyrot, Stefania Bandinelli, David M. Evans, Nicolas W. Martin, Martin F. Elderson, Melissa E. Garcia, Danielle Posthuma, Ozren Polasek, Panos Deloukas, Pedro Marques Vidal, Sang Hong Lee, James F. Wilson, Robert F. Krueger, Paul Lichtenstein, Jan-Emmanuel De Neve, Fernando Rivadeneira, Laura J. Bierut, Sebastian E. Baumeister, Lawrence F. Bielak, Peter M. Visscher, Philipp Koellinger, Thais S. Rizzi, Rodney J. Scott, Mika Kähönen, Marco Masala, Debbie A Lawlor, Yongmei Liu, Ben A. Oostra, Jaime Derringer, Zoltán Kutalik, Carla A. Ibrahim-Verbaas, Toshiko Tanaka, Håkon K. Gjessing, Jae Hoon Sul, Marjo-Riitta Järvelin, Krista Fischer, Erik Ingelsson, David R. Weir, Kati Kristiansson, Thomas Illig, Jorma Viikari, George Davey-Smith, Antti-Pekka Sarin, Matt McGue, Ida Surakka, Andreas Mielck, Ivana Kolcic, Astanand Jugessur, Aldo Rustichini, Sarah E. Medland, Ronny Myhre, Veikko Salomaa, Mina K. Chung, H.-Erich Wichmann, Lynn Cherkas, Peter Lichtner, Michael B. Miller, Peter Vollenweider, Jüri Allik, Henning Tiemeier, Grant W. Montgomery, Eva Reinmaa, Dalton Conley, Adriaan Hofman, Patricia A. Peyser, David Schlessinger, Martin Preisig, Jessica D. Faul, Patrik K. E. Magnusson, David A. Bennett, Erkki Vartiainen, David Laibson, François Bastardot, Niina Eklund, Wolfgang Hoffmann, Terho Lehtimäki, Nicholas D. Hastie, John P. Rice, Rolf Holle, Antti Latvala, Guoný Eiríksdóttir, Luigi Ferrucci, Jennifer A. Smith, Christian Gieger, Veronique Vitart, Gail Davies, Sara Hägg, Juha Karjalainen, Matthijs J. H. M. van der Loos, Bo Jacobsson, Lydia Quaye, John Barnard, Beate St Pourcain, Jouke-Jan Hottenga, Daniel S. Evans, Jonathan P. Beauchamp, Tamara B. Harris, Ian J. Deary, Jari Lahti, Peng Lin, Markus Perola, Henry Völzke, Lenore J. Launer, David C. Liewald, Brenda W.J.H. Penninx, David Cesarini, Najaf Amin, Dale R. Nyholt, Roy Thurik, Aarno Palotie, Patrick J. F. Groenen, Elisabeth Widen, Caroline Hayward, Penelope A. Lind, Susan M. Ring, Lyle J. Palmer, Alexander Teumer, Kelly S. Benke, Christopher Oldmeadow, Katja Petrovic, Gonneke Willemsen, Andrew C. Heath, Harold Snieder, Jaakko Kaprio, Marja-Liisa Nuotio, Frank J. A. van Rooij, Robert M. Kirkpatrick, Nicholas G. Martin, Tomi E. Mäkinen, Michelle N. Meyer, Katri Räikkönen, Harm-Jan Westra, Daniel J. Benjamin, Jeffrey A. Boatman, Henrik Grönberg, Eva Albrecht, Sharon L.R. Kardia, Peter K. Joshi, Philip L. De Jager, Mariza de Andrade, Patricia A. Boyle, Jennifer R. Harris, Vilmundur Guonason, Christiaan de Leeuw, Juliette Harris, Dena G. Hernandez, Jingmei Li, Per Hall, Wei Zhao, Abdel Abdellaoui, Andres Metspalu, Christina Holzapfel, Stavroula Kanoni, Christopher F. Chabris, John Attia, Rauli Svento, Erasmus School of Economics, Epidemiology, Surgery, Neurology, Applied Economics, Research Methods and Techniques, Clinical Genetics, Internal Medicine, Child and Adolescent Psychiatry / Psychology, Econometrics, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Lifestyle, Overweight and Diabetes, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Biological Psychology, Functional Genomics, Management and Organisation, Tinbergen Institute, Amsterdam Neuroscience - Complex Trait Genetics, Rietveld, Cornelius A, Medland, Sarah E, Derringer, Jaime, Yang, Jian, Lee, Sang Hong, Koellinger, Philipp D, LifeLines Cohort Study, ABS Other Research (FEB), Reproductive Origins of Adult Health and Disease (ROAHD), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Public Health Research (PHR), Teaching and Teacher Education, Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Psychiatry, Human genetics, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, and EMGO - Lifestyle, overweight and diabetes
Subjects: Netherlands Twin Register (NTR), Male, medicine.medical_specialty, Multifactorial Inheritance, Endophenotypes, social-science genetics, LOCI, SNP, Single-nucleotide polymorphism, Genome-wide association study, Biology, PREFERENCES, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Cognition, Polymorphism (computer science), medicine, GWAS, Humans, Allele, Polymorphism, education, gene, attainment, 030304 developmental biology, Genetics, 0303 health sciences, ENVIRONMENT, genome-wide association study, Multidisciplinary, Data Science, Replicate, Single Nucleotide, single-nucleotide polymorphism, linear polygenic score, ta3121, Educational attainment, Multidisciplinary Sciences, Educational Status, Female, Genetic Loci, Genome-Wide Association Study, educational attainment, Endophenotype, Medical genetics, 030217 neurology & neurosurgery
Abstract: Genetic College Many genomic elements in humans are associated with behavior, including educational attainment. In a genome-wide association study including more than 100,000 samples, Rietveld et al. (p. 1467 , published online 30 May; see the Perspective by Flint and Munafò ) looked for genes related to educational attainment in Caucasians. Small genetic effects at three loci appeared to impact educational attainment.
Published: 2013

27. Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author: Daniel I. Chasman, Stefan Schreiber, Paul M. Ridker, Salli Vepsäläinen, Antti-Pekka Sarin, Veikko Salomaa, Christopher Sivert Nielsen, Tobias Freilinger, Markus Schürks, John-Anker Zwart, Hartmut Göbel, Lydia Quaye, Cynthia Sandor, Nicholas Eriksson, Tõnu Esko, Hieab H.H. Adams, Thomas Meitinger, Andres Ingason, Lude Franke, Rainer Malik, Brenda W.J.H. Penninx, Verneri Anttila, Julie E. Buring, Thomas Hansen, Tobias Kurth, Tim D. Spector, Padhraig Gormley, Mikko Muona, Maija Wessman, Arpo Aromaa, E. Cuenca-Leon, Marjo-Riitta Järvelin, Mikko Kallela, Nicholas A. Furlotte, Linda M. Pedersen, George Davey Smith, Mitja I. Kurki, Aarno Palotie, Reedik Mägi, David P. Strachan, Hailiang Huang, Eija Hämäläinen, Caleb Webber, Nicholas G. Martin, Arn M. J. M. van den Maagdenberg, Zameel M. Cader, Mart Kals, Stacy Steinberg, Markus Färkkilä, Pamela A. F. Madden, Michel D. Ferrari, Grant W. Montgomery, Caroline Ran, Thomas Werge, Lannie Ligthart, Jouke-Jan Hottenga, Kari Stefansson, Tune H. Pers, Bertram Müller-Myhsok, Anine H. Stam, Susan M. Ring, Andres Metspalu, Terho Lehtimäki, Jes Olesen, Andrea Byrnes, Evelin Mihailov, Andrew Heath, Kauko Heikkilä, Jaakko Kaprio, David A. Hinds, Ville Artto, Jie Huang, Maria Gudlaug Hrafnsdottir, Dale R. Nyholt, Evie Stergiakouli, Benjamin M. Neale, Dorret I. Boomsma, Martin Dichgans, Guntram Borck, Kai-How Farh, Christian Kubisch, Cornelia M. van Duijn, André G. Uitterlinden, Albert Hofman, George McMahon, Audun Stubhaug, Kalle Pärn, Priit Palta, Lynn Cherkas, Mark J. Daly, Mari A. Kaunisto, Phil Lee, Ann-Louise Esserlind, Gisela M. Terwindt, Andrea Carmine Belin, Bendik S. Winsvold, Markku Koiranen, Johan G. Eriksson, Minna Männikkö, Olli T. Raitakari, Hreinn Stefansson, Anne Francke Christensen, Juho Wedenoja, Scott G. Gordon, M. Arfan Ikram, Elizabeth Loehrer, and Lili Milani
Subjects: 0301 basic medicine, Genetics, Published Erratum, MEDLINE, Biology, medicine.disease, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Migraine, Meta-analysis, medicine, Susceptibility locus, 030217 neurology & neurosurgery
Abstract: Migraine is a debilitating neurological disorder affecting around 1 in 7 people worldwide, but its molecular mechanisms remain poorly understood. Some debate exists over whether migraine is a disease of vascular dysfunction or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association (GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we performed the largest genetic study of migraine to date, comprising 59,674 cases and 316,078 controls from 22 GWA studies. We identified 44 independent single nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 × 10−8) that map to 38 distinct genomic loci, including 28 loci not previously reported and the first locus identified on chromosome X. In subsequent computational analyses, the identified loci showed enrichment for genes expressed in vascular and smooth muscle tissues, consistent with a predominant theory of migraine that highlights vascular etiologies.
Published: 2016

28. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Author: Nicholas G. Martin, René Höhn, Nagahisa Yoshimura, Jonathan H. Lass, Ilkka Seppälä, Masahiro Miyake, Kay-Tee Khaw, Pirro G. Hysi, Rhys Fogarty, Yi Lu, Zoran Vatavuk, Cécile Delcourt, Andrew D. Paterson, John P. Kemp, Jeremy A. Guggenheim, Jaakko Kaprio, Robert P. Igo, James F. Wilson, Stuart MacGregor, Anthony P Khawaja, Beate St Pourcain, Margaret M. DeAngelis, Jing Hua Zhao, Cornelia M. van Duijn, Olavi Pärssinen, Terho Lehtimäki, Roger W. Beuerman, Leslie J. Raffel, Eranga N. Vithana, Caroline Hayward, Cathy Williams, Thomas Meitinger, Lei Zhou, Candice E H Ho, Ozren Polasek, Hoi Suen Wong, Jie Jin Wang, Nicholas J. Timpson, Norbert Pfeiffer, Toomas Haller, Akira Meguro, Wei Chen, Ching-Yu Cheng, Vishal Jhanji, Johannes R. Vingerling, Mika Kähönen, Puya Gharahkhani, Sheng Feng, Nobuhisa Mizuki, Maurice Yap, Katie M Williams, Vincent Tan, Paul Mitchell, Taina Rantanen, Sudha K. Iyengar, Seang-Mei Saw, Christopher J Hammond, Kathryn P. Burdon, Harry Campbell, Sarayut Janmahasatian, Andres Metspalu, Caroline C W Klaver, Jugnoo S Rahi, Kenji Yamashiro, Laura Portas, Céline Bellenguez, Igor Rudan, Robert Luben, Virginie J. M. Verhoeven, Mary Frances Cotch, Paul N. Baird, Qiao Fan, Najaf Amin, David A. Mackey, Jenifer E. Huffman, Emily Y. Chew, Veluchamy A. Barathi, Tien Yin Wong, Ronald Klein, Jeremy Fondran, Mario Pirastu, Alan F. Wright, Jamie E Craig, Brian W Fleck, Paul J. Foster, Alvin L. Young, Alex W. Hewitt, Tin Aung, Maurizio Fossarello, Kari-Matti Mäkelä, Tanja Zeller, Maria Blettner, Xu Wang, Eileen Tai-Hui Boh, Terri L. Young, Mingguang He, Joan E. Bailey Wilson, Olli T. Raitakari, Shea Ping Yip, M. Kamran Ikram, Seyhan Yazar, Albert Hofman, Alireza Mirshahi, Tae Hwi Schwantes-An, Charumathi Sabanayagam, Pancy O. S. Tam, Ginevra Biino, Xiaobo Guo, Angela Döring, Audrey Cougnard-Gregoire, David M. Evans, Xiaohui Li, Christian Gieger, Songhomitra Panda-Jonas, Jost B. Jonas, Jan Willem L Tideman, Maria Schache, Chi Pui Pang, Barbara E.K. Klein, Simona Vaccargiu, Veronique Vitart, Jing Xie, Claire L. Simpson, S. Mohsen Hosseini, Chiea Chuen Khor, Dwight Stambolian, E. Shyong Tai, Xiangtian Zhou, Li Jia Chen, Milly S. Tedja, Margaux A. Morrison, Janina S. Ried, Yik Ying Teo, Konrad Oexle, Robert Wojciechowski, Nicholas J. Wareham, André G. Uitterlinden, Peter K. Joshi, Ya Xing Wang, Jean-François Korobelnik, George McMahon, Vinay Nangia, Elisabeth M. van Leeuwen, Lindsay A. Farrer, Preeti Gupta, Johanna Mazur, Evelin Mihailov, Wan’E. Lim, George Davey Smith, Liang Xu, Rosalynn Grace Siantar, Juho Wedenoja, Cristina Venturini, Fernando Rivadeneira, Clinicum, Department of Public Health, Silmäklinikka, Jaakko Kaprio / Principal Investigator, Institute for Molecular Medicine Finland, Genetic Epidemiology, Consortium for Refractive Error and Myopia (CREAM), Clinical Genetics, Erasmus MC other, Epidemiology, Internal Medicine, Ophthalmology, and Obstetrics & Gynecology
Subjects: 0301 basic medicine, Refractive error, genetic structures, General Physics and Astronomy, Genome-wide association study, VARIANTS, refractive error, gene, EYE, Bioinformatics, INCIDENT MYOPIA, Genome-wide association studies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Polymorphism (computer science), 10. No inequality, POPULATION, education.field_of_study, Multidisciplinary, ACTIVATED PROTEIN-KINASE, ta3142, single-nucleotide polymorphism, RETINAL-PIGMENT EPITHELIUM, OUTDOOR ACTIVITY, 3142 Public health care science, environmental and occupational health, 3. Good health, Refractive errors, Meta-analysis, loci, Educational Status, Science, Population, 610 Medicine & health, Environment, Biology, ta3111, Polymorphism, Single Nucleotide, Article, White People, General Biochemistry, Genetics and Molecular Biology, Education, 03 medical and health sciences, Asian People, SDG 3 - Good Health and Well-being, Genetic variation, medicine, Humans, SNP, Genetic Predisposition to Disease, myopia, 3125 Otorhinolaryngology, ophthalmology, education, RECEPTOR, Gene Expression Profiling, ta1184, General Chemistry, Heritability, medicine.disease, eye diseases, ta3125, TIME OUTDOORS, 030104 developmental biology, Genetic Loci, Evolutionary biology, RISK-FACTORS, 030221 ophthalmology & optometry, RE, sense organs, 3111 Biomedicine, Genome-Wide Association Study
Abstract: Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P, This report by the Consortium for Refractive Error and Myopia uses gene-environment-wide interaction study (GEWIS) to identify genetic loci that affect environmental influence in myopia development, and identifies ethnic specific genetic loci that attribute to eye refractive errors.
Published: 2016

29. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Author: Keith M. Godfrey, Aline Meirhaeghe, Jing Hua Zhao, Elina Hyppönen, Luis A. Moreno, Torben Hansen, James F. Wilson, Virpi Lindi, Eco J. C. de Geus, Ben A. Oostra, Karen A. Jameson, Liang Kee Goh, Philippe Froguel, Antje Körner, Ali Al-Odaib, H. Rob Taal, Dorret I. Boomsma, Craig E. Pennell, Terho Lehtimäki, Nicholas J. Timpson, George Dedoussis, Jorma Viikari, Haitao Zhang, Maiju Saarinen, Frédéric Gottrand, Daniel R. Witte, Vasiliki Lagou, Michael Stumvoll, Chris Power, Linda S. Adair, Anubha Mahajan, Karen L. Mohlke, Marcel den Hoed, Amanda J. Bennett, Dorota Monies, George McMahon, Zoltán Kutalik, Fowzan S. Alkuraya, Ewan R. Pearson, Marjan Kerkhof, Oluf Pedersen, Torben Jørgensen, Rachel M. Freathy, Albert Hofman, Elisabeth Widen, Bjarke Feenstra, Peter Vollenweider, Shikta Das, Frank Geller, Timo A. Lakka, Timothy M. Frayling, Seang-Mei Saw, Nadja Hawwa Vissing, Tuomas O. Kilpeläinen, Elisabeth Thiering, Jean Dallongeville, Hans Bisgaard, Eskil Kreiner-Møller, Sylvain Sebert, Mònica Guxens, Fernando Rivadeneira, Christina Kanaka-Gantenbein, Mads Melbye, Carla M. T. Tiesler, Susan M. Ring, Brian F. Meyer, Anke Tönjes, Nicholas J. Wareham, Ulla Sovio, Hazel Inskip, Nicole M. Warrington, Mirna Kirin, Claudia Flexeder, Marie Neergaard Harder, Berthold Hocher, Ehm A. Andersson, Andrew M. Prentice, Philippe Amouyel, Jouke-Jan Hottenga, Momoko Horikoshi, Jessica L. Buxton, Struan F.A. Grant, Ken K. Ong, Mariona Bustamante, Torsten Slowinski, Hakon Hakonarson, Marika Kaakinen, Jani Heikkinen, Gonneke Willemsen, Anneli Pouta, John P. Newnham, Allan Vaag, Christopher J. Groves, Thiemo Pfab, Debbie A Lawlor, Joachim Heinrich, Beverley M. Shields, Jianhua Zhao, Wieland Kiess, Olli Simell, Xavier Estivill, George Davey Smith, Andrew T. Hattersley, Colin Boreham, Bridget A. Knight, Ying Wu, Klaus Bønnelykke, Aaron Isaacs, Louise Pedersen, Kaixin Zhou, André G. Uitterlinden, Elisabeth M. van Leeuwen, John W. Holloway, Inga Prokopenko, Neil R. Robertson, Rany M. Salem, Alexandra I. F. Blakemore, Ruth J. F. Loos, Marjo-Riitta Järvelin, Sheila J. Barton, Beate St Pourcain, Jacqueline M. Vink, Norman Klopp, Anthony J. C. Fulford, David M. Evans, Gerard H. Koppelman, Hanieh Yaghootkar, Dennis O. Mook-Kanamori, David M. Hougaard, Christopher W. Kuzawa, Cyrus Cooper, Vincent W. V. Jaddoe, Diana L. Cousminer, Dirkje S. Postma, Matthew W. Gillman, Jonathan P. Bradfield, Pimphen Charoen, John P. Kemp, Ioanna Ntalla, Branwen J. Hennig, Cornelia M. van Duijn, Diane J. Berry, Mads V. Hollegaard, Johan G. Eriksson, Olli T. Raitakari, Mark I. McCarthy, Joel N. Hirschhorn, Harri Niinikoski, Faculty of Behavioural and Movement Sciences, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Medical Research Council (MRC), Erasmus MC other, Epidemiology, Medical Microbiology & Infectious Diseases, Clinical Genetics, Internal Medicine, Medical Oncology, Pediatrics, Groningen Research Institute of Pharmacy, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC), Meta-Analyses of Glucose and Insulin related traits Consortium (MAGIC), Early Growth Genetics (EGG) Consortium, Horikoshi, Momoko, Yaghootkar, Hanieh, Mook-Kanamori, Dennis O, Sovio, Ulla, Hypponen, Elina Tuulikki, Freathy, Rachel M, Insulin-related traits Consortium (MAGIC), Meta-Analyses of, Glucose, Gastroenterology & Hepatology, Hematology, and Public Health
Subjects: Type 2/genetics, Netherlands Twin Register (NTR), Male, Genetic Linkage, Birth Weight/genetics, Physiology, Genome-wide association study, BLOOD-PRESSURE, Blood Pressure, Type 2 diabetes, Head circumference, Genome-wide association studies, Fetal Development, GLUCOKINASE GENE, 0302 clinical medicine, Birth Weight, GENETICS & HEREDITY, Genetics & Heredity, 0303 health sciences, ADCY5, Body Height/genetics, COMMON VARIANTS, 11 Medical And Health Sciences, Single Nucleotide, Glucokinase gene, Metaanalysis, 3. Good health, HEAD CIRCUMFERENCE, Adult Birth Weight/*genetics Blood Pressure/genetics Body Height/*genetics Diabetes Mellitus, Type 2/genetics Female Fetal Development/*genetics *Genetic Linkage Genetic Predisposition to Disease Genome-Wide Association Study Humans Infant, Newborn Male Meta-Analysis as Topic Polymorphism, Single Nucleotide *Quantitative Trait Loci, Diabetes Mellitus, Type 2/genetics, Female, Life Sciences & Biomedicine, Blood-pressure, Adult, SUSCEPTIBILITY LOCI, Blood Pressure/genetics, Birth weight, Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Quantitative Trait Loci, 030209 endocrinology & metabolism, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, Genetic linkage, Early Growth Genetics (EGG) Consortium, Genetics, medicine, Diabetes Mellitus, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Polymorphism, Fetal Development/genetics, Genome-Wide Association Study, Infant, Newborn, CDKAL1, METAANALYSIS, 030304 developmental biology, Genetic association, Fasting glucose, Science & Technology, Infant, ta3121, 06 Biological Sciences, medicine.disease, Newborn, Body Height, INDIVIDUALS, Diabetes Mellitus, Type 2, Institut für Ernährungswissenschaft, TYPE-2 DIABETES RISK, FASTING GLUCOSE, Developmental Biology
Abstract: Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood1. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits2. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism. Major funding for the research in this paper is provided by the Academy of Finland (project grants 126925, 121584, 124282, 129378 (Salve), 117787 (Gendi), 41071 (Skidi), 209072, 129255, 104781, 120315, 129269, 1114194, 206374, 251360, 139900/24300796, Center of Excellence in Complex Disease Genetics and SALVE) and Biocentrum Helsinki; Arthritis Research UK; the Augustinus Foundation; the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL); the Biomedical Research Council, Singapore (BMRC 06/1/21/19/466); BIF: Boehringer Ingelheim Fonds (travel grant to A.T.); the British Heart Foundation; the C.G. Sundell Foundation; the Canadian Institutes of Health Research (grant MOP-82893); Cancer Research UK; the Chief Scientist Office of the Scottish Government; the Children’s Hospital of Philadelphia (Institute Development Award); Conselleria de Sanitat Generalitat Valenciana; the Copenhagen Graduate School of Health Sciences; the Cotswold Foundation (Research Development Award); the Curtin University and Women and Infants Research Foundation; the Danish Health Insurance Societies (Health Fund); the Danish Medical Research Council; the Danish National Research Foundation; the Danish Pediatric Asthma Centre; the Danish Pharmacists’ Fund; the Danish Strategic Research Council; the Darlington Trust; the Department of Health and Social Services in Northern Ireland; Deutsche Forschungsgemeinschaft (DFG); Diabetes Hilfs- und Forschungsfonds Deutschland (DHFD; travel grant to M. Stumvoll); Diabetes UK (grants RD08/0003704 and RD08/0003692); the Dunhill Medical Trust; the Dutch Asthma Foundation (grants 3.4.01.26, 3.2.06.022, 3.4.09.081 and 3.2.10.085CO); the Dutch Ministry of the Environment (EFRE): Europäische Fonds für Regionale Entwicklung (LIFE Child Obesity); the Egmont Foundation; the Else Kröner-Fresenius Foundation; the Emil Aaltonen Foundation (T.L.); the ENGAGE project and grant agreement HEALTH-F4-2007-201413; the Erasmus Medical Center; Erasmus University, Rotterdam; the European Commission (EURO-BLCS, Beta-JUDO, Framework 5 award QLG1-CT-2000-01643, GABRIEL (Integrated Program LSH-2004-1.2.5-1 contract 018996), framework programme 6 EUROSPAN project (contract LSHG-CT-2006-018947), Sixth Research, Technological Development (RTD) Framework Programme (Contract FOOD-CT-2005-007034) and Seventh Framework Programme (FP7/2007-2013)); the European Research Council (ERC Advanced; 230374); the European Science Foundation (ESF; EU/QLRT-2001-01254); the Exeter NHS Research and Development; Faculty of Biology and Medicine of Lausanne; the Finnish Foundation of Cardiovascular Research; the Finnish Cultural Foundation; the Finnish Innovation Fund Sitra; the Finnish Ministry of Education and Culture; the Finnish Ministry of Social Affairs and Health; the Finnish Social Insurance Institution; the Foundation for Paediatric Research; Fundació La Marató de TV3; Fundación Roger Torné; Generalitat de Catalunya–Interminesterial Council for Research and Technological Innovation (CIRIT; 1999SGR) 00241; the German Diabetes Association (A.T.); the German Bundesministerium fuer Forschung und Technology (grants 01 AK 803 A-H and 01 IG 07015 G); the German Research Foundation for the Clinical Research Group Atherobesity KFO 152 (KO3512/1 to A.K.); GlaxoSmithKline; the Hagedorn Research Institute; Instituto de Salud Carlos III (CB06/02/0041, FIS PI041436, PI081151, PI041705 and PS09/00432 and FIS-FEDER 03/1615, 04/1509, 04/1112, 04/1931, 05/1079, 05/1052, 06/1213, 07/0314 and 09/02647); the Interdisciplinary Centre for Clinical Research at the University of Leipzig (B27 to A.T. and M. Stumvoll); the Integrated Research and Treatment Centre (IFB) Adiposity Diseases; the Jackstädt-Foundation; the Juho Vainio Foundation; the Juvenile Diabetes Research Foundation International (JDRF); Kuopio, Tampere and Turku University Hospital Medical Funds (grant 5031343 to T.A. Lakka and grant 9M048 to T.L.); The Lundbeck Foundation; the Lundbeck Foundation Centre of Applied Medical Genomics for Personalized Disease Prediction, Prevention and Care (LuCAMP); the March of Dimes Birth Defects Foundation (6-FY09-507); the MRC, UK (grants 74882, G0000934, G0601653, G0500539, G0600705, G0601261, G0600331, PrevMetSyn/SALVE PS0476 and MC-A760-5QX00); the Munich Center of Health Sciences (MC Health); the National Health and Medical Research Council of Australia (grants 403981 and 003209); the US National Human Genome Research Institute; the US National Institute of Allergy and Infectious Diseases; the US National Institute of Child Health and Human Development; the US National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); the US National Institutes of Health (grants U01DK062418, U01HG004423, U01HG004446, U01HG004438, R01DK075787, 1R01HD056465-01A, R01D0042157-01A, DK078150, TW05596, HL085144, HD054501, RR20649, ES10126, DK56350 and Biomedical Research Centers funding); the Netherlands Bioinformatics Centre (NBIC) BioAssist (RK/2008.024); a National Heart, Lung, and Blood Institute (NHLBI) grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01); the NIH Genetic Association Information Network (GAIN); the NIH/National Institute of Mental Health (NIMH) (5R01MH63706:02 and MH081802); the Rutgers University Cell and DNA Repository cooperative agreement (NIMH U24 MH068457-06); the Novo Nordisk Foundation Center for Basic Metabolic Research; the Center for Medical Systems Biology (CMSB; NWO Genomics); the Netherlands Organization for Scientific Research (NWO: Social Sciences (MaGW) and the Netherlands Organization for Health Research and Development (ZonMw) (Middelgroot-911-09-032, Spinozapremie 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717, Addiction-31160008, 985-10-002, 40-0056-98-9032 and 912-03-031); the Paavo Nurmi Foundation; the Peninsula NIHR Clinical Research Facility; the Pharmacy Foundation of 1991; the PhD School of Molecular Metabolism University of Southern Denmark; the Raine Medical Research Foundation; the Royal Society; the Sigrid Juselius Foundation; South West NHS Research and Development; the Spanish Ministry of Science and Innovation (SAF2008-00357), Turku University Hospital; the Swiss National Science Foundation (33CSCO-122661); the Tampere Tuberculosis Foundation; the Telethon Institute for Child Health Research; the Turku University Foundation; the US Centers for Disease Control and Prevention; University Hospital Oulu, Biocenter, the University of Oulu (75617); the University of Bristol; the University of Potsdam; the University of Southampton; the University of Western Australia (UWA); the VU Institute for Health and Care Research (EMGO+) and the Neuroscience Campus Amsterdam (NCA); the Wellcome Trust (grants GR069224, WT088806, 068545/Z/02, 076467, 085301, 090532, 083270, 083948, 085541/Z/08/Z, WT089549 and WT083431MA); and the Yrjö Jahnsson Foundation.
Published: 2012

30. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author: Beate St Pourcain, Vilmundur Gudnason, Taina Rantanen, Joan E. Bailey-Wilson, Anke Tönjes, Sudha K. Iyengar, Caroline Hayward, Ben A. Oostra, Lennart C. Karssen, Yi Lu, Barbara E.K. Klein, Igor Rudan, Federico Murgia, Wan Ting Tay, Veronique Vitart, M. Kamran Ikram, Tien Yin Wong, James F. Wilson, Seang-Mei Saw, Kyoko Ohno-Matsui, Tin Aung, Christian Wolfram, Liang Kee Goh, Ozren Polasek, Olavi Pärssinen, Cathy Williams, Paul Mitchell, Thomas Meitinger, Thomas Bettecken, Mika Kähönen, Dominiek D. G. Despriet, Guðný Eiríksdóttir, Angela Döring, Alireza Mirshahi, Eranga N. Vithana, Yi-Ju Li, Jie Jin Wang, David A. Mackey, Brian W Fleck, Laura Portas, Isao Nakata, Tõnu Esko, George McMahon, Tanja Zeller, Terri L. Young, Albert V. Smith, Phillippa M. Cumberland, Shomi S. Bhattacharya, Norbert Pfeiffer, Karl J. Lackner, Johannes R. Vingerling, Fernando Rivadeneira, Andres Metspalu, Caroline C W Klaver, Xin Zhou, Alan F. Wright, Priya Duggal, Leslie J. Raffel, Albert Hofman, Jugnoo S Rahi, Kenji Yamashiro, Ryo Yamada, Reedik Mägi, Cornelia M. van Duijn, Jeremy A. Guggenheim, Virginie J. M. Verhoeven, René Höhn, Nagahisa Yoshimura, Xueling Sim, Terho Lehtimäki, Harry Campbell, Pirro G. Hysi, Konrad Oexle, Raphaële Castagné, Mary Frances Cotch, Robert Wojciechowski, E-Shyong Tai, Tim D. Spector, Claire L. Simpson, Dwight Stambolian, Yik Ying Teo, André G. Uitterlinden, Larry D. Atwood, Abhishek Nag, Paul N. Baird, Qiao Fan, Najaf Amin, Chiea Chuen Khor, Paulus T. V. M. de Jong, Xiaohui Li, Christopher J Hammond, Sarayut Janmahasatian, Fumihiko Matsuda, Alex W. Hewitt, Leonieke M E van Koolwijk, Ophthalmology, Erasmus MC other, Epidemiology, Clinical Genetics, and Internal Medicine
Subjects: Population, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Myopia, Genetics, Humans, SNP, Genetics(clinical), Allele, education, Alleles, Genetics (clinical), Original Investigation, 030304 developmental biology, Genetic association, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, 3. Good health, Phenotype, 030221 ophthalmology & optometry, Population study, RE
Abstract: Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10−12 for SNP rs634990 in Caucasians, and 9.65 × 10−4 for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10−23 for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P
Published: 2012

31. Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

Author: Sudha Seshadri, Gerard H. Koppelman, H.-Erich Wichmann, Meike W. Vernooij, Paul F. O'Reilly, Cecilia E. Kim, Norman Klopp, Inga Prokopenko, Nicholas J. Timpson, Craig E. Pennell, Joachim Heinrich, Rachel M. Freathy, Aarno Palotie, Mark I. McCarthy, Rosetta M. Chiavacci, Elisabeth Widen, Frank Geller, Beate St Pourcain, Jordi Sunyer, Lawrence J. Beilin, Myriam Fornage, Pimphen Charoen, Vilmundur Gudnason, André G. Uitterlinden, George McMahon, Mads Melbye, Anne Mølgaard, John P. Kemp, Marika Kaakinen, Carla M. T. Tiesler, Susan M. Ring, Carmen Iñiguez, Fernando Rivadeneira, Lyle J. Palmer, Hanieh Yaghootkar, Dennis O. Mook-Kanamori, M. Arfan Ikram, Aad van der Lugt, Cornelia M. van Duijn, Bjarke Feenstra, Hakon Hakonarson, Johan G. Eriksson, Stéphanie Debette, Bo L. Chawes, Vincent W. V. Jaddoe, A Pouta, Jonathan P. Bradfield, John P. Newnham, Martina Müller-Nurasyid, Mark Lathrop, Albert Hofman, H. Rob Taal, Thomas H. Mosley, Alexandra I. F. Blakemore, Klaus Bønnelykke, Lenore J. Launer, Marjo-Riitta Järvelin, Hans Bisgaard, Diana L. Cousminer, Monique M.B. Breteler, Frank D. Mentch, Wendy L. McArdle, Mònica Guxens, Shikta Das, David M. Evans, Eskil Kreiner-Møller, Jari Lahti, Struan F.A. Grant, Charles DeCarli, Marjan Kerkhof, Nicole M. Warrington, Nadja Hawwa Vissing, Eric A.P. Steegers, Jessica L. Buxton, Albert V. Smith, Elisabeth Thiering, Marie Standl, Anna-Liisa Hartikainen, Stephen J. Lye, Xavier Estivill, George Davey Smith, Andrew T. Hattersley, Ulla Sovio, Julio Fernandez-Banet, and Albert J. van der Heijden
Subjects: Head circumference, Genetics, Anatomy, Biology
Published: 2013

32. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author: Jing Hua Zhao, Vilmundur Gudnason, Robin Haring, Enda M. Byrne, Christian Gieger, Marek Zygmunt, Lude Franke, Peter Kraft, Eric Boerwinkle, Matthias W. Beckmann, Catharina A. Hartman, Thorkild I. A. Sørensen, Aida Karina Dieffenbach, André G. Uitterlinden, Grant W. Montgomery, Graham G. Giles, Felix R. Day, Anja Rudolph, Arto Mannermaa, Sven Bergmann, Nora Franceschini, Julian Peto, Ellen W. Demerath, Diana L. Cousminer, Wei Ang, Gudmar Thorleifsson, Patrick F. McArdle, Dieter Flesch-Janys, Albertine J. Oldehinkel, Irene L. Andrulis, Aarno Palotie, Nicholas J. Timpson, Paolo Peterlongo, Johan G. Eriksson, Bernardo Bonanni, Dorret I. Boomsma, J. Margriet Collée, Immaculata De Vivo, Bjarke Feenstra, Teresa Ferreira, Cornelia M. van Duijn, Nancy L. Pedersen, Deborah J. Thompson, Peter Vollenweider, Douglas F. Easton, Pascal Guénel, Anna Maria Storniolo, Erik Ingelsson, Gisli Masson, Annika Lindblom, Stefania Bandinelli, Elisabeth Widen, Doris Stöckl, Veikko Salomaa, Zoltán Kutalik, Nicholas J. Wareham, Joanne M. Murabito, Eleonora Porcu, Fergus J. Couch, Katri Pylkäs, Luigi Ferrucci, Wendy L. McArdle, Frank Geller, Andrea D. Coviello, Lynda M. Rose, Daniel L. Koller, Ute Hamann, Ulla Sovio, Daniel F. Gudbjartsson, Georgia Chenevix-Trench, Roger L. Milne, Unnur Thorsteinsdottir, Paul M. Ridker, Henry Völzke, John R. B. Perry, Stephen J. Chanock, Tanguy Corre, Mads Melbye, Ben A. Oostra, Albert V. Smith, Tõnu Esko, Melissa E. Garcia, Debbie A Lawlor, Meir J. Stampfer, Per Hall, Patrick Sulem, Massimo Mangino, Nicholas G. Martin, David J. Hunter, Laura Crisponi, Tatiana Foroud, Antonietta Robino, Michael J. Econs, Susan M. Ring, Natalia Tšernikova, Dirkje S. Postma, Lavinia Paternoster, Peter A. Fasching, Tamara B. Harris, Ellen A. Nohr, Javier Benitez, Ruth J. F. Loos, Robert Winqvist, Andres Metspalu, Jenny A. Visser, Heather A. Boyd, Jonathan Tyrer, Alexander Teumer, Tim D. Spector, Sandra Lai, Douglas P. Kiel, Kamila Czene, Hiltrud Brauch, George Davey Smith, Julia A. Knight, Erin K. Wagner, Suiqun Guo, Tune H. Pers, Patrik K. E. Magnusson, Kathryn L. Lunetta, Hoda Anton-Culver, Marjanka K. Schmidt, George McMahon, Ken K. Ong, Adamo Pio D'Adamo, Veli-Matti Kosma, Jinhui Chen, Paul D.P. Pharoah, Diether Lambrechts, Femke Atsma, Serena Sanna, Ilja M. Nolte, Eco de Geus, Daniel I. Chasman, Emmi Tikkanen, John L. Hopper, Anna Murray, Laura M. Yerges-Armstrong, Sanela Kjellqvist, Eva Albrecht, Hermann Brenner, Paolo Gasparini, Bruce H. R. Wolffenbuttel, Alison M. Dunning, John P. Rice, Craig E. Pennell, Mark I. McCarthy, Andrea Ganna, Henri Wallaschofski, Frank B. Hu, Gérard Waeber, Henrik Flyger, Evelin Mihailov, Peter Devilee, Lisette Stolk, Behrooz Z. Alizadeh, Jouke-Jan Hottenga, Najaf Amin, Patrick Neven, Reedik Mägi, Kyriaki Michailidou, Kari Stefansson, Munro Peacock, Julie E. Buring, Laura J. Bierut, Cathy E. Elks, Marjo-Riitta Järvelin, Montserrat Garcia-Closas, Anneli Pouta, David Schlessinger, Harold Snieder, Chunyan He, Joe Dennis, Heli Nevanlinna, Gonneke Willemsen, Andrew C. Heath, Elizabeth A. Streeten, Albert Hofman, Angela Cox, Maartje J. Hooning, Lili Milani, Margaret J. Wright, Fernando Rivadeneira, Gudny Eiriksdottir, Mellissa C. Southey, Qin Wang, Paolo Radice, Manjeet K. Bolla, Kay-Tee Khaw, Carl Blomqvist, Melanie Waldenberger, Sheila Ulivi, David Couper, Jenny Chang-Claude, David Karasik, Stig E. Bojesen, Andrew D. Johnson, David P. Strachan, Perry, John [0000-0001-6483-3771], Day, Felix [0000-0003-3789-7651], Thompson, Deborah [0000-0003-1465-5799], Zhao, Jing Hua [0000-0003-4930-3582], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Pharoah, Paul [0000-0001-8494-732X], Sovio, Ulla [0000-0002-0799-1105], Tyrer, Jonathan [0000-0003-3724-4757], Wang, Jean [0000-0002-9139-0627], Khaw, Kay-Tee [0000-0002-8802-2903], Wareham, Nicholas [0000-0003-1422-2993], Easton, Douglas [0000-0003-2444-3247], Ong, Kenneth [0000-0003-4689-7530], Apollo - University of Cambridge Repository, Australian Ovarian Cancer Study, GENICA Network, kConFab, LifeLines Cohort Study, InterAct Consortium, Early Growth Genetics (EGG) Consortium, Cousminer, D.L., Stergiakouli, E., Berry, D.J., Ang, W., Groen-Blokhuis, M.M., Körner, A., Siitonen, N., Ntalla, I., Marinelli, M., Perry, J.R., Kettunen, J., Jansen, R., Surakka, I., Timpson, N.J., Ring, S., McMahon, G., Power, C., Wang, C., Kähönen, M., Viikari, J., Lehtimäki, T., Middeldorp, C.M., Hulshoff Pol, H.E., Neef, M., Weise, S., Pahkala, K., Niinikoski, H., Zeggini, E., Panoutsopoulou, K., Bustamante, M., Penninx, B.W., Murabito, J., Torrent, M., Dedoussis, G.V., Kiess, W., Boomsma, D.I., Pennell, C.E., Raitakari, O.T., Hyppönen, E., Davey Smith, G., Ripatti, S., McCarthy, M.I., Widén, E., Alizadeh, B.Z., de Boer, R.A., Boezen, H.M., Bruinenberg, M., Franke, L., van der Harst, P., Hillege, H.L., van der Klauw, M.M., Navis, G., Ormel, J., Postma, D., Rosmalen, J.G., Slaets, J.P., Snieder, H., Stolk, R.P., Wolffenbuttel, B.H., Wijmenga, C., Forouhi, N., Kerrison, N.D., Langenberg, C., Scott, R.A., Sharp, S.J., Sims, M., Barroso, I., Deloukas, P., Arriola, L., Balkau, B., Barricarte, A., Boeing, H., Franks, P.W., Gonzalez, C., Grioni, S., Kaaks, R., Key, T.J., Navarro, C., Nilsson, P.M., Overvad, K., Palli, D., Panico, S., Quirós, J., Rolandsson, O., Sacerdote, C., Sánchez, M.J., Slimani, N., Tjonneland, A., Tumino, R., van der A, D.L., van der Schouw, Y.T., Riboli, E., Wareham, N.J., Bowtell, D.D., Green, A., Chenevix-Trench, G., deFazio, A., Gertig, D., Webb, P.M., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y.D., Baisch, C., Fischer, H.P., Pesch, B., Rabstein, S., Spickenheuer, A., Harth, V., Aghmesheh, M., Amor, D., Andrews, L., Antill, Y., Armitage, S., Arnold, L., Balleine, R., Bankier, A., Bastick, P., Beesley, J., Beilby, J., Bennett, I., Bennett, B., Berry, G., Blackburn, A., Bogwitz, M., Brennan, M., Brown, M., Buckley, M., Burgess, M., Burke, J., Butow, P., Byron, K., Callen, D., Campbell, I., Chauhan, D., Christian, A., Clarke, C., Colley, A., Cotton, D., Crook, A., Cui, J., Culling, B., Cummings, M., Dawson, S.J., Delatycki, M., Dickson, R., Dixon, J., Dobrovic, A., Dudding, T., Edkins, T., Edwards, S., Eisenbruch, M., Farshid, G., Fawcett, S., Fellows, A., Fenton, G., Field, M., Firgaira, F., Flanagan, J., Fleming, J., Fong, P., Forbes, J., Fox, S., French, J., Friedlander, M., Gaff, C., Gardner, M., Gattas, M., George, P., Giles, G., Gill, G., Goldblatt, J., Greening, S., Grist, S., Eric, H., Hardie, K., Harris, M., Hart, S., Hayward, N., Healey, S., Heiniger, L., Hopper, J., Humphrey, E., Hunt, C., James, P., Jenkins, M., Jones, A., Kefford, R., Kidd, A., Kiely, B., Kirk, J., Koehler, J., Kollias, J., Kovalenko, S., Lakhani, S., Leaming, A., Leary, J., Lim, J., Lindeman, G., Lipton, L., Lobb, L., Mann, G., Marsh, D., McLachlan, S.A., Meiser, B., Meldrum, C., Milne, R., Mitchell, G., Newman, B., O'Connell, S., O'Loughlin, I., Osborne, R., Pachter, N., Patterson, B., Peters, L., Phillips, K., Price, M., Purser, L., Reeve, J., Reeve, T., Richards, R., Rickard, E., Robinson, B., Rudzki, B., Saleh, M., Salisbury, E., Sambrook, J., Saunders, C., Saunus, J., Sayer, R., Scott, E., Scott, R., Scott, C., Seshadri, R., Sexton, A., Sharma, R., Shelling, A., Simpson, P., Southey, M., Spurdle, A., Suthers, G., Sykes, P., Taylor, D., Taylor, J., Thierry, B., Thompson, E., Thorne, H., Townshend, S., Trainer, A., Tran, L., Tucker, K., Tyler, J., Visvader, J., Walker, L., Walpole, I., Waring, P., Warner, B., Warren, G., Williams, R., Wilson, J., Winship, I., Wu, K., Young, M.A., Public Health, Internal Medicine, Epidemiology, Clinical Genetics, Medical Oncology, Child and Adolescent Psychiatry / Psychology, Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Groningen Research Institute for Asthma and COPD (GRIAC), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Political Science, Perry, John R. B, Day, Felix, Elks, Cathy E, Sulem, Patrick, Thompson, Deborah J, Ferreira, Teresa, He, Chunyan, Chasman, Daniel I, Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q, Corre, Tanguy, Cousminer, Diana L, Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D, Kjellqvist, Sanela, Lunetta, Kathryn L, Mcmahon, George, Nolte, Ilja M, Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Tšernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K, Amin, Najaf, Bierut, Laura J, Byrne, Enda M, Hottenga, Jouke Jan, Koller, Daniel L, Mangino, Massimo, Pers, Tune H, Yerges Armstrong, Laura M, Hua Zhao, Jing, Andrulis, Irene L, Anton Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Buring, Julie E, Chang Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix Trench, Georgia, Collée, J. Margriet, Couch, Fergus J, Couper, David, Coviello, Andrea D, Cox, Angela, Czene, Kamila, D'Adamo, Adamo Pio, Davey Smith, George, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Devilee, Peter, Dieffenbach, Aida K, Dunning, Alison M, Eiriksdottir, Gudny, Eriksson, Johan G, Fasching, Peter A, Ferrucci, Luigi, Flesch Janys, Dieter, Flyger, Henrik, Foroud, Tatiana, Franke, Lude, Garcia, Melissa E, García Closas, Montserrat, Geller, Frank, de Geus, Eco E. J, Giles, Graham G, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hamann, Ute, Haring, Robin, Hartman, Catharina A, Heath, Andrew C, Hofman, Albert, Hooning, Maartje J, Hopper, John L, Hu, Frank B, Hunter, David J, Karasik, David, Kiel, Douglas P, Knight, Julia A, Kosma, Veli Matti, Kutalik, Zoltan, Lai, Sandra, Lambrechts, Diether, Lindblom, Annika, Mägi, Reedik, Magnusson, Patrik K, Mannermaa, Arto, Martin, Nicholas G, Masson, Gisli, Mcardle, Patrick F, Mcardle, Wendy L, Melbye, Mad, Michailidou, Kyriaki, Mihailov, Evelin, Milani, Lili, Milne, Roger L, Nevanlinna, Heli, Neven, Patrick, Nohr, Ellen A, Oldehinkel, Albertine J, Oostra, Ben A, Palotie, Aarno, Peacock, Munro, Pedersen, Nancy L, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P, Postma, Dirkje S, Pouta, Anneli, Pylkäs, Katri, Radice, Paolo, Ring, Susan, Rivadeneira, Fernando, Robino, Antonietta, Rose, Lynda M, Rudolph, Anja, Salomaa, Veikko, Sanna, Serena, Schlessinger, David, Schmidt, Marjanka K, Southey, Mellissa C, Sovio, Ulla, Stampfer, Meir J, Stöckl, Dori, Storniolo, Anna M, Timpson, Nicholas J, Tyrer, Jonathan, Visser, Jenny A, Vollenweider, Peter, Völzke, Henry, Waeber, Gerard, Waldenberger, Melanie, Wallaschofski, Henri, Wang, Qin, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R, Wright, Margaret J, Boomsma, Dorret I, Econs, Michael J, Khaw, Kay Tee, Loos, Ruth J. F, Mccarthy, Mark I, Montgomery, Grant W, Rice, John P, Streeten, Elizabeth A, Thorsteinsdottir, Unnur, van Duijn, Cornelia M, Alizadeh, Behrooz Z, Bergmann, Sven, Boerwinkle, Eric, Boyd, Heather A, Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Harris, Tamara B, Ingelsson, Erik, Järvelin, Marjo Riitta, Kraft, Peter, Lawlor, Debbie, Metspalu, Andre, Pennell, Craig E, Ridker, Paul M, Snieder, Harold, Sørensen, Thorkild I. A, Spector, Tim D, Strachan, David P, Uitterlinden, André G, Wareham, Nicholas J, Widen, Elisabeth, Zygmunt, Marek, Murray, Anna, Easton, Douglas F, Stefansson, Kari, Murabito, Joanne M, Ong, Ken K., Panico, Salvatore, Perry, John R. B., Elks, Cathy E., Thompson, Deborah J., Chasman, Daniel I., Ang, Wei Q., Cousminer, Diana L., Johnson, Andrew D., Lunetta, Kathryn L., Nolte, Ilja M., Smith, Albert V., Wagner, Erin K., Bierut, Laura J., Byrne, Enda M., Koller, Daniel L., Pers, Tune H., Yerges Armstrong, Laura M., Zhao, Jing Hua, Andrulis, Irene L., Beckmann, Matthias W., Bojesen, Stig E., Bolla, Manjeet K., Buring, Julie E., Couch, Fergus J., Coviello, Andrea D., D'Adamo, ADAMO PIO, Smith, George Davey, Demerath, Ellen W., Dieffenbach, Aida K., Dunning, Alison M., Eriksson, Johan G., Fasching, Peter A., Garcia, Melissa E., De Geus, Eco E. J., Giles, Graham G., Gudbjartsson, Daniel F., Hartman, Catharina A., Heath, Andrew C., Hooning, Maartje J., Hopper, John L., Hu, Frank B., Hunter, David J., Kiel, Douglas P., Knight, Julia A., Magnusson, Patrik K., Martin, Nicholas G., Mcardle, Patrick F., Mcardle, Wendy L., Milne, Roger L., Nohr, Ellen A., Oldehinkel, Albertine J., Oostra, Ben A., Pedersen, Nancy L., Pharoah, Paul D. P., Postma, Dirkje S., Rose, Lynda M., Schmidt, Marjanka K., Southey, Mellissa C., Stampfer, Meir J., Storniolo, Anna M., Timpson, Nicholas J., Visser, Jenny A., Wolffenbuttel, Bruce H. R., Wright, Margaret J., Boomsma, Dorret I., Econs, Michael J., Loos, Ruth J. F., Mccarthy, Mark I., Montgomery, Grant W., Rice, John P., Streeten, Elizabeth A., Van Duijn, Cornelia M., Alizadeh, Behrooz Z., Boyd, Heather A., Harris, Tamara B., Pennell, Craig E., Ridker, Paul M., Sørensen, Thorkild I. A., Spector, Tim D., Strachan, David P., Uitterlinden, André G., Wareham, Nicholas J., Easton, Douglas F., and Murabito, Joanne M.
Subjects: Netherlands Twin Register (NTR), Male, Parents, CENTRAL PRECOCIOUS PUBERTY, Genome-wide association study, Disease, VARIANTS, DISEASE, Body Mass Index, 0302 clinical medicine, Adolescent, Age Factors, Alleles, Breast Neoplasms/genetics, Cardiovascular Diseases/genetics, Child, Diabetes Mellitus, Type 2/genetics, Europe/ethnology, Female, Genetic Loci/genetics, Genome-Wide Association Study, Genomic Imprinting/genetics, Humans, Hypothalamo-Hypophyseal System/physiology, Intercellular Signaling Peptides and Proteins/genetics, Membrane Proteins/genetics, Menarche/genetics, Obesity/genetics, Ovary/physiology, Polymorphism, Single Nucleotide/genetics, Potassium Channels, Tandem Pore Domain/genetics, Proteins/genetics, Quantitative Trait Loci/genetics, Receptors, GABA-B/metabolism, Receptors, Retinoic Acid/metabolism, Ribonucleoproteins/genetics, Intercellular Signaling Peptides and Protein, Age Factor, Tandem Pore Domain, GENE-EXPRESSION, 0303 health sciences, BREAST-CANCER RISK, 3. Good health, Ribonucleoproteins, Cardiovascular Diseases, Menarche, Intercellular Signaling Peptides and Proteins, Science & Technology - Other Topics, GENICA Network, Breast Neoplasm, Type 2, Human, Hypothalamo-Hypophyseal System, Quantitative Trait Loci, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, REVEALS, Diabetes Mellitus, Polymorphism, METAANALYSIS, Science & Technology, ta1184, Calcium-Binding Proteins, Proteins, HUMAN PREFRONTAL CORTEX, ta3121, ta3123, Diabetes Mellitus, Type 2, Genetic Loci, CELLS, 030217 neurology & neurosurgery, LifeLines Cohort Study, Potassium Channels, Receptors, Retinoic Acid, Retinoic Acid, Australian Ovarian Cancer Study, Polymorphism (computer science), Cardiovascular Disease, Receptors, WIDE ASSOCIATION, Membrane Protein, Allele, 2. Zero hunger, Genetics, Multidisciplinary, Single Nucleotide, Europe, Multidisciplinary Sciences, kConFab, Breast Neoplasms, Genomic Imprinting, Membrane Proteins, Obesity, Ovary, Polymorphism, Single Nucleotide, Potassium Channels, Tandem Pore Domain, Receptors, GABA-B, General Science & Technology, Ubiquitin-Protein Ligases, Quantitative trait locus, Biology, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Early Growth Genetics (EGG) Consortium, 030304 developmental biology, Protein, GABA-B, Ribonucleoprotein, InterAct Consortium, Genetic architecture, Parent, Genomic imprinting
Abstract: Contains fulltext : 136472.pdf (Publisher’s version ) (Closed access) Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
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33. Genome-wide population-based association study of extremely overweight young adults - the GOYA study

Author: Beate St Pourcain, A. Sandbaek, Torben Hansen, Nicholas J. Timpson, Diana Zelenika, John P. Kemp, Thorkild I. A. Sørensen, Katherine S. Elliott, Ellen A. Nohr, Anette P. Gjesing, Niels Grarup, Torben Jørgensen, Jorg Hager, Allan Linneberg, Oluf Pedersen, Mark Lathrop, George Davey Smith, Paul Brennan, Lavinia Paternoster, Torsten Lauritzen, David M. Evans, Claus Holst, Valerie Gaborieau, Daniel R. Witte, and George McMahon
Subjects: Potassium Channels, lcsh:Medicine, Genome-wide association study, Overweight, Body Mass Index, 0302 clinical medicine, lcsh:Science, 2. Zero hunger, Genetics, 0303 health sciences, education.field_of_study, Multidisciplinary, Genomics, DNA-Binding Proteins, Meta-analysis, Cohort, Receptor, Melanocortin, Type 4, Medicine, medicine.symptom, Research Article, Adult, Adolescent, Genotype, Population, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Genome Analysis Tools, Genome-Wide Association Studies, medicine, Humans, Genetic Predisposition to Disease, Obesity, education, Nutrition, 030304 developmental biology, Genetic association, Evolutionary Biology, Population Biology, lcsh:R, nutritional and metabolic diseases, Membrane Proteins, Proteins, Computational Biology, Human Genetics, Transcription Factor AP-2, lcsh:Q, Apoptosis Regulatory Proteins, Body mass index, Population Genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study, Demography
Abstract: Background Thirty-two common variants associated with body mass index (BMI) have been identified in genome-wide association studies, explaining ∼1.45% of BMI variation in general population cohorts. We performed a genome-wide association study in a sample of young adults enriched for extremely overweight individuals. We aimed to identify new loci associated with BMI and to ascertain whether using an extreme sampling design would identify the variants known to be associated with BMI in general populations. Methodology/Principal Findings From two large Danish cohorts we selected all extremely overweight young men and women (n = 2,633), and equal numbers of population-based controls (n = 2,740, drawn randomly from the same populations as the extremes, representing ∼212,000 individuals). We followed up novel (at the time of the study) association signals (p

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33 results on '"George McMahon"'

1. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

2. Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

3. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

4. Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women

5. A genome-wide approach to children's aggressive behavior: The EAGLE consortium

6. Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

7. Genomic influences on alcohol problems in a population-based sample of young adults

8. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

9. Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

10. A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

11. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

12. Genome-wide associations for birth weight and correlations with adult disease

13. Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

14. A genome-wide association meta-analysis identifies new childhood obesity loci

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

16. Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

17. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

18. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

19. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

20. Genome-wide association study of blood lead shows multiple associations near ALAD

21. Phenotype refinement strengthens the association of AHR and CYP1A1 genotype with caffeine consumption

22. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

23. Genome-wide meta-analysis identifies new susceptibility loci for migraine

24. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

25. Genome-wide association study identifies loci affecting blood copper, selenium and zinc

26. GWAS of 126559 Individuals Identifies Genetic Variants Associated with Educational Attainment

27. Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

28. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

29. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

30. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

31. Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

32. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

33. Genome-wide population-based association study of extremely overweight young adults - the GOYA study

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33 results on '"George McMahon"'

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