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9 results on '"Pirro G, Hysi"'

1. 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
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2. Genome-wide association analysis identifies six new loci associated with forced vital capacity

Author

Wenbo Tang, Stephen B. Kritchevsky, Ian P. Hall, Alexessander Couto Alves, Henry Völzke, Kim de Jong, Sina A. Gharib, Louise V. Wain, Adaikalavan Ramasamy, John M. Starr, Tatijana Zemunik, André G. Uitterlinden, Isabelle Pin, A. Bill Musk, Lina Zgaga, Ernst Omenaas, Mi Kyeong Lee, Nadia N. Hansel, Lewis J. Smith, Dana B. Hancock, Anne Viljanen, Anneli Pouta, Erik Melén, Nora Franceschini, Susan Campbell, Alicja R. Rudnicka, Melissa E. Garcia, Jemma B. Wilk, Igor Rudan, John Beilby, Fernando Rivadeneira, Gudny Eiriksdottir, Lenore J. Launer, Kristin M. Burkart, Ozren Polasek, Pieter S. Hiemstra, Regina Hampel, Jerome I. Rotter, Markku Heliövaara, Harald Grallert, Tim D. Spector, Andrew P. Morris, Jennifer E. Huffman, Pau Navarro, Jing Hua Zhao, Robert A. Scott, Bruno H. Stricker, Christopher Oldmeadow, Yeon-Mok Oh, Christian Gieger, Tove Fall, Caroline Hayward, Rodney J. Scott, Mika Kähönen, Vilmundur Gudnason, Guy Brusselle, Stefan Karrasch, Anne B. Newman, Alan James, Ida Surakka, Peter K. Joshi, R. Graham Barr, Fien Verhamme, Alexander Teumer, Ulf Gyllensten, Joohon Sung, Marjolein J. Peters, Ryan L. Minster, Kirsi H. Pietiläinen, Ian J. Deary, Lorna M. Lopez, Matthias Wjst, Myriam Fornage, Susan Redline, Wei Gao, Taina Rantanen, David J. Lederer, Gail Davies, Mary K. Wojczynski, Kari E. North, Beate Koch, Guo Li, George T. O'Connor, Blair H. Smith, Harry Campbell, Wendy B. White, Juha Pekkanen, Eva Albrecht, Sven Gläser, Joyce B. J. van Meurs, Stephen S. Rich, Wendy L. McArdle, Deborah Jarvis, Ani Manichaikul, Pirro G. Hysi, Christopher J Hammond, Erik Ingelsson, Albert V. Smith, John Attia, O. Dale Williams, Tamara B. Harris, Susan R. Heckbert, Josée Dupuis, Bruce M. Psaty, Åsa Johansson, Xin-Qun Wang, Samuli Ripatti, Woo Jin Kim, Patricia A. Cassano, H. Marike Boezen, David J. Porteous, Esteban G. Burchard, Kurt Lohman, Ivana Kolcic, Lies Lahousse, James F. Wilson, Dirkje S. Postma, Holly Trochet, Nicholas J. Wareham, Ana Viñuela, María Soler Artigas, Lars Lind, Jennie Hui, Bharat Thyagarajan, Judith M. Vonk, Marcy F. Petrini, Bonnie R. Joubert, Marjo-Riitta Järvelin, Xiangjun Gu, Claudia Flexeder, Generation Scotland, Sarah H. Wild, Nicholas D. Hastie, Thomas Lumley, Veronique Vitart, Laura R. Loehr, Joachim Heinrich, Yongmei Liu, Akshay Sood, Tess D. Pottinger, Alan F. Wright, Albert Hofman, Rajesh Kumar, Cisca Wijmenga, Elizabeth G. Holliday, Ian Sayers, David P. Strachan, Martin D. Tobin, Stefan Enroth, Thor Aspelund, Leslie A. Lange, Qing Duan, Daan W. Loth, Ken R. Bracke, Nathan C. Gaddis, David Couper, Stephanie J. London, Alanna C. Morrison, Holger Schulz, Jaakko Kaprio, Life Course Epidemiology (LCE), Groningen Research Institute for Asthma and COPD (GRIAC), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Otorhinolaryngology and Head and Neck Surgery, Psychiatry, Epidemiology, Public Health, and Internal Medicine

Subjects
Spirometry, Lung Diseases, Vital capacity, Quantitative Trait Loci, Vital Capacity, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, DISEASE, Pulmonary function testing, Cohort Studies, FEV1/FVC ratio, Idiopathic pulmonary fibrosis, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, Forced Expiratory Volume, Databases, Genetic, Genetics, medicine, Humans, Restrictive lung disease, Lung volumes, Genetic Predisposition to Disease, lung, spriometry, SNP, gene, GENE-EXPRESSION, medicine.diagnostic_test, Genome, Human, HERITABILITY, HEALTHY TWIN, MORTALITY, ta3141, respiratory system, medicine.disease, Prognosis, 3. Good health, Respiratory Function Tests, respiratory tract diseases, FAMILY, LUNG-FUNCTION, Genetic Loci, Immunology, CELLS, IDIOPATHIC PULMONARY-FIBROSIS, TRAITS, Follow-Up Studies, Genome-Wide Association Study
Abstract

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P

Published
2014
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3. 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
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4. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Author

Caroline C W Klaver, Xiaoyan Luo, Albert Hofman, Arni B Stefansson, Christopher J Hammond, Fridbert Jonasson, Louis R. Pasquale, Norbert Pfeiffer, Jun Li, Johannes R. Vingerling, Gudmar Thorleifsson, Nicholas G. Martin, René Höhn, Ananth C. Viswanathan, Sarah Ennis, Jonathan L. Haines, Craig E. Pennell, Vesteinn Jonsson, Jessica N. Cooke Bailey, Kathryn P. Burdon, Lennart C. Karssen, Céline Bellenguez, Pirro G. Hysi, Philipp S. Wild, Dominiek D. G. Despriet, James F. Wilson, Cécile Delcourt, Jamie E Craig, Michael A. Hauser, Philippe Amouyel, Leonieke M E van Koolwijk, Andrea Senft, Chiea Chuen Khor, Tien Yin Wong, Tin Aung, Tanja Zeller, Nomdo M. Jansonius, Yik Ying Teo, Yingfeng Zheng, Terri L. Young, David A. Mackey, Brian W Fleck, Roger C. W. Wolfs, Veronique Vitart, Ching-Yu Cheng, Paulus T. V. M. de Jong, Joan E. Bailey-Wilson, Kari Stefansson, Alireza Mirshahi, Lisa S. Kearns, James F Kirwan, Ben A. Oostra, Andrew J. Lotery, Sayoko E. Moroi, Rhys Fogarty, Henriët Springelkamp, R. Rand Allingham, Eranga N. Vithana, Julia E. Richards, André G. Uitterlinden, Wishal D. Ramdas, Cristina Venturini, Paul Leo, Kerrin S. Small, Fernando Rivadeneira, Stuart MacGregor, Jiemin Liao, Karl J. Lackner, Cornelia M. van Duijn, Sandra E Staffieri, Alex W. Hewitt, Hans G Lemij, Seang-Mei Saw, Seyhan Yazar, Janey L. Wiggs, Gabriel Cuellar-Partida, Jae H. Kang, Abhishek Nag, Adriana I Iglesias, Najaf Amin, Tim D. Spector, Claire L. Simpson, Cécilia Maubaret, Robert Wojciechowski, E-Shyong Tai, Liang Xu, Ya Xing Wang, Elisabeth M. van Leeuwen, Ayse Bilge Ozel, Unnur Thorsteinsdottir, Stephanie J. Loomis, Ophthalmology, Epidemiology, Internal Medicine, Clinical Genetics, Obstetrics & Gynecology, Perceptual and Cognitive Neuroscience (PCN), and Netherlands Institute for Neuroscience (NIN)

Subjects
Male, Intraocular pressure, genetic structures, Glaucoma, Genome-wide association study, Cohort Studies, 0302 clinical medicine, Polymorphism (computer science), Risk Factors, POPULATION, Genetics, Aged, 80 and over, RISK, 0303 health sciences, education.field_of_study, COMMON VARIANTS, ASSOCIATION, Middle Aged, Female, TRIAL, Chromosomes, Human, Pair 3, OPEN-ANGLE GLAUCOMA, Chromosomes, Human, Pair 9, Glaucoma, Open-Angle, ATP Binding Cassette Transporter 1, Adult, EXPRESSION, medicine.medical_specialty, Open angle glaucoma, Genotype, Population, Chromosome 9, Biology, Polymorphism, Single Nucleotide, Article, ABO Blood-Group System, 03 medical and health sciences, Young Adult, Meta-Analysis as Topic, Ophthalmology, medicine, Humans, Genetic Predisposition to Disease, education, CENTRAL CORNEAL THICKNESS, Intraocular Pressure, METAANALYSIS, 030304 developmental biology, Genetic association, Aged, Chromosomes, Human, Pair 11, medicine.disease, eye diseases, Fibronectins, REDUCTION, Genetic Loci, 030221 ophthalmology & optometry, sense organs, Genome-Wide Association Study
Abstract

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 x 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

Published
2014

5. 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
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6. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Author

Norman Klopp, Chih-Mei Chen, Erik Melén, Dirkje S. Postma, Klaus Bønnelykke, Gerard H. Koppelman, Ivan Curjuric, Massimo Mangino, Nicholas J. Timpson, Alexandra I. F. Blakemore, Stephen B. Montgomery, Marjo-Riitta Järvelin, Anneli Pouta, Dorret I. Boomsma, Melanie C. Matheson, Albert Hofman, Matthias Wjst, Hans Bisgaard, Natalija Novak, Deborah Jarvis, Grant W. Montgomery, Frank Geller, Beate St Pourcain, Craig E. Pennell, Manuel A. R. Ferreira, Andre Franke, Alexessander Couto Alves, Frank D. Mentch, Vincent W. V. Jaddoe, Marie Standl, Nicole M. Warrington, Jouke-Jan Hottenga, Jessica L. Buxton, Peter N. Le Souëf, Bjarke Feenstra, Peter D. Sly, Bo L. Chawes, Martina Mueller-Nurasyid, Angela Simpson, Philip J. Thompson, Jacob P. Thyssen, Patrick G. Holt, Eskil Kreiner-Møller, David L. Duffy, Thomas Illig, Johan C. de Jongste, Bo Jacobsson, Joachim Heinrich, Mads Melbye, Wenche Nystad, H-Erich Wichmann, Medea Imboden, Wendy L. McArdle, Carla M. T. Tiesler, Susan M. Ring, Jeff Murray, Lavinia Paternoster, Torkil Menné, Marjan Kerkhof, John Henderson, Ronny Myhre, Lyle J. Palmer, George Davey Smith, Eva Albrecht, Pamela A. F. Madden, Marika Kaakinen, Hansjoerg Baurecht, Nicole Probst-Hensch, Cecilia Kim, Cornelia M. van Duijin, Panos Deloukas, Patrick M. A. Sleiman, Christian Gieger, John A. Curtin, Adnan Custovic, Daniel Glass, Cilla Söderhäll, Annika Sääf, Elke Rodriguez, Nicholas G. Martin, Stephan Weidinger, Tim D. Spector, Adaikalavan Ramasamy, John P. Kemp, Heather A. Boyd, Elisabeth Thiering, David P. Strachan, Anna-Liisa Hartikainen, Hakon Hakonarson, Allan Linneberg, Ralf J. P. van der Valk, Pirro G. Hysi, David M. Evans, Rain Jögi, Ellen A. Nohr, Liesbeth Duijts, Katharina Heim, Veronique Bataille, Fernando Rivadeneira, Maria M. Groen-Blokhuis, Andrew C. Heath, David Ellinghaus, Michael E. March, Holger Prokisch, Regina Foelster-Holst, André G. Uitterlinden, Emmanouil T. Dermitzakis, Juha Pekkanen, Henriette A. Smit, Medical Research Council (MRC), Dermitzakis, Emmanouil, Montgomery, Stephen, Biological Psychology, EMGO+ - Mental Health, Pediatrics, Surgery, Internal Medicine, Epidemiology, Erasmus MC other, Public Health, Groningen Research Institute of Pharmacy, Faculteit Medische Wetenschappen/UMCG, and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
Male, Genetics of Overweight Young Adults (GOYA) Consortium, Netherlands Twin Register (NTR), Epidemiology, Cell Differentiation/genetics Chromosomes, Human, Pair 11/genetics Chromosomes, Human, Pair 20/genetics Chromosomes, Human, Pair 5 Cytokines/genetics DNA-Binding Proteins/genetics Dermatitis, Atopic/*genetics/immunology Epidermis/immunology Female *Genetic Loci Genetic Predisposition to Disease *Genome-Wide Association Study Humans Intermediate Filament Proteins/genetics Kinesin/genetics Male Polymorphism, Single Nucleotide Risk Transcription Factors/genetics, Chromosomes, Human, Pair 20, Kinesins, Genome-wide association study, Filaggrin Proteins, VARIANTS, Chromosomes, Human, Pair 11/genetics, medicine.disease_cause, Genome-wide association studies, DISEASE, 030207 dermatology & venereal diseases, 0302 clinical medicine, Intermediate Filament Proteins, Epidermis/immunology, ddc:576.5, GENETICS & HEREDITY, Genetics, 0303 health sciences, education.field_of_study, PSORIASIS, Cytokines/genetics, Cell Differentiation, Kinesin, 11 Medical And Health Sciences, Atopic dermatitis, 3. Good health, DNA-Binding Proteins, DIFFERENTIATION, Chromosomes, Human, Pair 5, Cytokines, Female, Dermatitis, Atopic/genetics/immunology, Life Sciences & Biomedicine, Kinesin/genetics, Filaggrin, EXPRESSION, Risk, Cell Differentiation/genetics, Population, Transcription Factors/genetics, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Australian Asthma Genetics Consortium (AAGC), Article, MECHANISMS, Dermatitis, Atopic, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, FILAGGRIN, Humans, SPERMATOGENESIS, Genetic Predisposition to Disease, EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium, education, 030304 developmental biology, Science & Technology, Chromosomes, Human, Pair 11, Odds ratio, 06 Biological Sciences, Immune dysregulation, medicine.disease, Chromosomes, Human, Pair 20/genetics, Genetic Loci, Intermediate Filament Proteins/genetics, Immunology, ASTHMA, Epidermis, CELLULAR MOTILITY, DNA-Binding Proteins/genetics, Genome-Wide Association Study, Transcription Factors, Developmental Biology
Abstract

Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 × 10 -13) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 10 -9), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 × 10 -8). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis. © 2012 Nature America, Inc. All rights reserved.

Published
2012
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7. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

Author

Arthur W. Musk, Ernst Omenaas, Dana B. Hancock, Jennie Hui, John W. Holloway, Nora Franceschini, Alan F. Wright, Ma'en Obeidat, Judith M. Vonk, Norman Klopp, Shah Ebrahim, R. Graham Barr, Jerome I. Rotter, Albert Hofman, Jennifer E. Huffman, Kirsi H. Pietiläinen, John Beilby, Bruno H. Ch. Stricker, Xiangjun Gu, Fernando Rivadeneira, James F. Wilson, Fredrik Nyberg, Peter D. Sly, María Soler Artigas, Bonnie R. Joubert, Marjo-Riitta Järvelin, Medea Imboden, Veronique Vitart, Albert V. Smith, Ida Surakka, C.M. Jackson, Susan R. Heckbert, Avan Aihie Sayer, Craig E. Pennell, Matthias Wjst, Ivana Kolcic, Cyrus Cooper, Wei Ang, Ian Sayers, John Britton, George T. O'Connor, Patrick G. Holt, Anna-Liisa Hartikainen, Adaikalavan Ramasamy, Jing Hua Zhao, Jonathan Marchini, Bernd Meibohm, Laura R. Loehr, Mark Eijgelsheim, David Couper, Massimo Mangino, Santosh Dahgam, Vilmundur Gudnason, David P. Strachan, Martin D. Tobin, Rebecca Hardy, Nicole Probst-Hensch, Stephen B. Kritchevsky, George Davey Smith, Tatijana Zemunik, Toby Johnson, Samuli Ripatti, Georg Homuth, Debbie A Lawlor, Thor Aspelund, Henry Völzke, John M. Starr, Aroon D. Hingorani, Khalid A. Al Balushi, Ivan Curjuric, John Henderson, Diana Kuh, Ruth J. F. Loos, Joachim Heinrich, Ozren Polasek, Yongmei Liu, Dirkje S. Postma, Raquel Granell, Akshay Sood, Kari E. North, Beate Koch, Christian Gieger, Tamara B. Harris, Anneli Pouta, David J. Porteous, Daan W. Loth, Sarah H. Wild, Gudny Eiriksdottir, Mladen Boban, Markku Heliövaara, Jonas Brisman, Mika Kähönen, Eva Albrecht, Pirro G. Hysi, Paul Elliott, Stephanie J. London, Guy Brusselle, Myriam Fornage, Thierry Rochat, Kurt Lohman, Ani Manichaikul, David M. Evans, Florian Kronenberg, Caroline Hayward, Harry Campbell, Tricia M. McKeever, So-Youn Shin, Deborah Jarvis, Alanna C. Morrison, Nicole M. Warrington, Holger Schulz, Karen A. Jameson, Stefan Karrasch, Cisca Wijmenga, Richard W Morris, Gauti Kjartan Gislason, Lina Zgaga, Ivica Grković, Alan James, Amanda P. Henry, O. Dale Williams, Jaakko Kaprio, Gemma Cadby, Susan M. Ring, Peter H. Whincup, Thomas Lumley, Nicholas J. Wareham, Lorna M. Lopez, John L. Hankinson, Christopher J Hammond, André G. Uitterlinden, Isabelle Pin, Shona M. Kerr, Alicja R. Rudnicka, Ian J. Deary, Taina Rantanen, Sven Gläser, Wendy L. McArdle, Andrew Wong, Ins Barroso, Lenore J. Launer, S. Goya Wannamethee, Wenbo Tang, Ian P. Hall, Sina A. Gharib, Louise V. Wain, Vesna Boraska, John D Blakey, H.-Erich Wichmann, Anna-Carin Olin, Patricia A. Cassano, H. Marike Boezen, Stipan Janković, Igor Rudan, Andrew D. Morris, Jason Z. Liu, Sarah E. Harris, Clyde Francks, Michael Hunter, Kristin D. Marciante, Stephen S. Rich, Darya Gaysina, Bruce M. Psaty, Melinda C. Aldrich, Melissa E. Garcia, Jemma B. Wilk, Tim D. Spector, Lyle J. Palmer, Guangju Zhai, Epidemiology, Internal Medicine, Public Health, Medical Research Council (MRC), The International Lung Cancer Consortium, Giant consortium, Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
Oncology, Vital capacity, PROTEIN, Genome-wide association study, BLOOD-PRESSURE, VARIANTS, Pulmonary function testing, Pulmonary Disease, Chronic Obstructive, 0302 clinical medicine, Epidemiology, IMPUTATION, Child, 11 Medical and Health Sciences, POPULATION, Genetics & Heredity, RISK, 0303 health sciences, education.field_of_study, WOMEN, GENETIC-VARIATION, 3. Good health, Respiratory Function Tests, medicine.anatomical_structure, Medical genetics, Life Sciences & Biomedicine, EXPRESSION, medicine.medical_specialty, MECOM, Population, European Continental Ancestry Group, Biology, OBSTRUCTIVE PULMONARY-DISEASE, Article, White People, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, education, METAANALYSIS, POLYMORPHISMS, 030304 developmental biology, Lung, Science & Technology, MORTALITY, GIANT consortium, International Lung Cancer Consortium, 06 Biological Sciences, 030228 respiratory system, Immunology, lung, gene, gwas, Genome-Wide Association Study, Developmental Biology
Abstract

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.

Published
2011
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8. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Author

Alex W. Hewitt, Abbas M Solouki, Jugnoo S Rahi, Margarida C. Lopes, M. Kamran Ikram, Stuart MacGregor, Terri L. Young, David A. Mackey, Cornelia M. van Duijn, Toby Andrew, Samantha J. Fahy, Eugenio Santos, Yi-Ju Li, Caroline C W Klaver, Alberto Fernández-Medarde, Tim D. Spector, Francis Carbonaro, Christopher J Hammond, Angel Porteros, Nicholas G. Martin, Pak C. Sham, Pirro G. Hysi, Lara Manyes, Johannes R. Vingerling, Lee Yiu Fai, Ophthalmology, and Epidemiology

Subjects
Adult, Male, Refractive error, Genotype, genetic structures, Eye disease, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Mice, 03 medical and health sciences, 0302 clinical medicine, Myopia, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Mice, Knockout, Chromosomes, Human, Pair 15, 0303 health sciences, Retina, Genome, Human, ras-GRF1, Case-control study, Middle Aged, medicine.disease, eye diseases, 3. Good health, medicine.anatomical_structure, Case-Control Studies, 030221 ophthalmology & optometry, Twin Studies as Topic, Female, Genome-Wide Association Study
Abstract

5 páginas, 3 figuras, 1 tabla.-- et al., Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye′s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10−8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10−9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1−/− mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment., The King's College London authors acknowledge funding from the Wellcome Trust, the European Union MyEuropia Marie Curie Research Training Network, Guide Dogs for the Blind Association, the European Community's FP7 (HEALTH-F2-2008-201865-GEFOS), European Network of Genetic and Genomic Epidemiology (ENGAGE) (HEALTH-F4-2007-201413), the FP-5 GenomEUtwin Project (QLG2-CT-2002-01254), US National Institutes of Health (NIH)/National Eye Institute (NEI) grant 1RO1EY018246 and genotyping by the NIH Center for Inherited Disease Research. The study also received support from the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service Foundation Trust partnering with King's College London.

Published
2010
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9. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Author

Abbas M Solouki, Aaron Isaacs, Paulus T. V. M. de Jong, David A. Mackey, Leonieke M E van Koolwijk, M. Kamran Ikram, Najaf Amin, Jacqueline J. M. Willemse-Assink, Albert Hofman, Christopher J Hammond, Cornelia M. van Duijn, André G. Uitterlinden, Frans C. C. Riemslag, Yurii S. Aulchenko, Lintje Ho, Wishal D. Ramdas, Fernando Rivadeneira, Sigrid M. A. Swagemakers, Monika A. Czudowska, Virginie J. M. Verhoeven, Dominiek D. G. Despriet, Rogier Kramer, Annemieke J.M.H. Verkerk, Terri L. Young, Pirro G. Hysi, Arthur A.B. Bergen, Ben A. Oostra, Robert W A M Kuijpers, Gabriel van Rij, Johannes R. Vingerling, Theo G. M. F. Gorgels, Maksim Struchalin, Andy A.L.J. van Oosterhout, Tim D. Spector, Caroline C W Klaver, Surgical clinical sciences, Epidemiology, Ophthalmology, Pathology, Cell biology, Clinical Genetics, Internal Medicine, Other departments, ANS - Amsterdam Neuroscience, Human Genetics, and Netherlands Institute for Neuroscience (NIN)

Subjects
Adult, Male, Adolescent, Genotype, Population, Locus (genetics), Genome-wide association study, Case-control studies, Connexins/genetics, Biology, Chromosomes, Connexins, Article, 03 medical and health sciences, 0302 clinical medicine, Myopia, Genetics, Humans, Genetic Predisposition to Disease, Allele, education, Allele frequency, 030304 developmental biology, Aged, Pair 15/genetics, Medicine(all), Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Genome, Chromosomes, Human, Pair 15/genetics, Genome, Human, Actins/genetics, Genetic Variation, Odds ratio, Middle Aged, Actins, Minor allele frequency, Genetic Variation/genetics, 030221 ophthalmology & optometry, young adult, Female, Myopia/genetics, Human, Genome-Wide Association Study
Abstract

Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refractive error in 5,328 individuals from a Dutch population-based study with replication in four independent cohorts (combined 10,280 individuals in the replication stage). We identified a significant association at chromosome 15q14 (rs634990, P = 2.21 × 10−14). The odds ratio of myopia compared to hyperopia for the minor allele (minor allele frequency = 0.47) was 1.41 (95% CI 1.16–1.70) for individuals heterozygous for the allele and 1.83 (95% CI 1.42–2.36) for individuals homozygous for the allele. The associated locus is near two genes that are expressed in the retina, GJD2 and ACTC1, and appears to harbor regulatory elements which may influence transcription of these genes. Our data suggest that common variants at 15q14 influence susceptibility for refractive errors in the general population.

Published
2010
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