A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (Articolo in rivista)

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Label
  • A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pgen.1003266 (literal)
Alternative label
  • Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, Lahti J, Liu C, Lopez LM, Nolte IM, O'Connell JR, Tanaka T, Trompet S, Arnold A, Bandinelli S, Beekman M, Böhringer S, Brown SJ, Buckley BM, Camaschella C, de Craen AJ, Davies G, de Visser MC, Ford I, Forsen T, Frayling TM, Fugazzola L, Gögele M, Hattersley AT, Hermus AR, Hofman A, Houwing-Duistermaat JJ, Jensen RA, Kajantie E, Kloppenburg M, Lim EM, Masciullo C, Mariotti S, Minelli C, Mitchell BD, Nagaraja R, Netea-Maier RT, Palotie A, Persani L, Piras MG, Psaty BM, Räikkönen K, Richards JB, Rivadeneira F, Sala C, Sabra MM, Sattar N, Shields BM, Soranzo N, Starr JM, Stott DJ, Sweep FC, Usala G, van der Klauw MM, van Heemst D, van Mullem A, Vermeulen SH, Visser WE, Walsh JP, Westendorp RG, Widen E, Zhai G, Cucca F, Deary IJ, Eriksson JG, Ferrucci L, Fox CS, Jukema JW, Kiemeney LA, Pramstaller PP, Schlessinger D, Shuldiner AR, Slagboom EP, Uitterlinden AG, Vaidya B, Visser TJ, Wolffenbuttel BH, Meulenbelt I, Rotter JI, Spector TD, Hicks AA, Toniolo D, Sanna S, Peeters RP, Naitza S. (2013)
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    in PLOS genetics (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, Lahti J, Liu C, Lopez LM, Nolte IM, O'Connell JR, Tanaka T, Trompet S, Arnold A, Bandinelli S, Beekman M, Böhringer S, Brown SJ, Buckley BM, Camaschella C, de Craen AJ, Davies G, de Visser MC, Ford I, Forsen T, Frayling TM, Fugazzola L, Gögele M, Hattersley AT, Hermus AR, Hofman A, Houwing-Duistermaat JJ, Jensen RA, Kajantie E, Kloppenburg M, Lim EM, Masciullo C, Mariotti S, Minelli C, Mitchell BD, Nagaraja R, Netea-Maier RT, Palotie A, Persani L, Piras MG, Psaty BM, Räikkönen K, Richards JB, Rivadeneira F, Sala C, Sabra MM, Sattar N, Shields BM, Soranzo N, Starr JM, Stott DJ, Sweep FC, Usala G, van der Klauw MM, van Heemst D, van Mullem A, Vermeulen SH, Visser WE, Walsh JP, Westendorp RG, Widen E, Zhai G, Cucca F, Deary IJ, Eriksson JG, Ferrucci L, Fox CS, Jukema JW, Kiemeney LA, Pramstaller PP, Schlessinger D, Shuldiner AR, Slagboom EP, Uitterlinden AG, Vaidya B, Visser TJ, Wolffenbuttel BH, Meulenbelt I, Rotter JI, Spector TD, Hicks AA, Toniolo D, Sanna S, Peeters RP, Naitza S. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 9(2) (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Eleonora Porcu, Maria G. Piras, Gianluca Usala, Francesco Cucca, Serena Sanna, Silvia Naitza Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy Eleonora Porcu, Francesco Cucca Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy Marco Medici, Fernando Rivadeneira, Alies van Mullem, W. Edward Visser, André G. Uitterlinden, Theo J. Visser, Robin P. Peeters Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands Giorgio Pistis, Clara Camaschella, Corrado Masciullo, Cinzia Sala, Daniela Toniolo Division of Genetics and Cell Biology, San Raffaele Research Institute, Milano, Italy Giorgio Pistis Università degli Studi di Trieste, Trieste, Italy Claudia B. Volpato, Martin Gögele, Cosetta Minelli, Peter P. Pramstaller, Andrew A. Hicks Center for Biomedicine, European Academy Bozen/Bolzano (EURAC), Bolzano, Italy (Affiliated Institute of the University of Lübeck, Lübeck, Germany) Scott G. Wilson, Suzanne J. Brown, Ee M. Lim, John P. Walsh Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia Scott G. Wilson, J. Brent Richards, Guangju Zhai, Tim D. Spector Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom Scott G. Wilson, John P. Walsh School of Medicine and Pharmacology, University of Western Australia, Crawley, Western Australia, Australia Anne R. Cappola University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America Steffan D. Bos, Joris Deelen, Marian Beekman, Eline P. Slagboom, Ingrid Meulenbelt Leiden University Medical Center, Molecular Epidemiology, Leiden, The Netherlands Steffan D. Bos, Joris Deelen, Marian Beekman, Eline P. Slagboom, Ingrid Meulenbelt Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands Martin den Heijer, Ad R. Hermus, Romana T. Netea-Maier Department of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Martin den Heijer Department of Internal Medicine, Free University Medical Center, Amsterdam, The Netherlands Rachel M. Freathy, Timothy M. Frayling Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, United Kingdom Jari Lahti, Katri Räikkönen Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland Chunyu Liu Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, Massachusetts, United States of America Lorna M. Lopez, John M. Starr, Ian J. Deary Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, United Kingdom Lorna M. Lopez, Gail Davies, Ian J. Deary Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom Ilja M. Nolte Unit of Genetic Epidemiology and Bioinformatics, Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Jeffrey R. O'Connell, Braxton D. Mitchell, Alan R. Shuldiner Department of Medicine, University of Maryland Medical School, Baltimore, Maryland, United States of America Toshiko Tanaka, Luigi Ferrucci Clinical Research Branch, National Institute on Aging, Baltimore, Maryland, United States of America Stella Trompet, J. Wouter Jukema Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands Stella Trompet, Anton J. M. de Craen Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, The Netherlands Alice Arnold, Richard A. Jensen Cardiovascular Health Research Unit and Department of Medicine, University of Washington, Seattle, Washington, United States of America Stefania Bandinelli Geriatric Unit, Azienda Sanitaria Firenze (ASF), Florence, Italy Stefan Böhringer, Jeanine J. Houwing-Duistermaat Leiden University Medical Center, Medical Statistics and Bioinformatics, Leiden, The Netherlands Brendan M. Buckley Department of Pharmacology and Therapeutics, University College Cork, Cork, Ireland Clara Camaschella Vita e Salute University, San Raffaele Scientific Institute, Milano, Italy Marieke C. H. de Visser, Sita H.Vermeulen, Lambertus A. Kiemeney Department for Health Evidence, Radboud University Medical Centre, Nijmegen, The Netherlands Ian Ford Robertson Center for Biostatistics, University of Glasgow, Glasgow, United Kingdom Tom Forsen, Eero Kajantie, Johan G. Eriksson Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland Tom Forsen, Johan G. Eriksson Department of General Practice and Primary Health Care, University of Helsinki, Helsinki, Finland Tom Forsen, Johan G. Eriksson Helsinki University Central Hospital, Unit of General Practice, Helsinki, Finland Tom Forsen Vaasa Health Care Centre, Diabetes Unit, Vaasa, Finland Laura Fugazzola Endocrine Unit, Fondazione Ca' Granda Policlinico and Department of Clinical Sciences and Community Health, University of Milan, Milano, Italy Andrew T. Hattersley, Beverley M. Shields Peninsula NIHR Clinical Research Facility, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, United Kingdom Albert Hofman, Fernando Rivadeneira, André G. Uitterlinden Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands Albert Hofman, Fernando Rivadeneira, André G. Uitterlinden Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA), Rotterdam, The Netherlands Eero Kajantie Hospital for Children and Adolescents, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland Margreet Kloppenburg Department of Clinical Epidemiology and Rheumatology, Leiden University Medical Center, Leiden, The Netherlands Ee M. Lim Pathwest Laboratory Medicine WA, Nedlands, Western Australia, Australia Stefano Mariotti Dipartimento di Scienze Mediche, Università di Cagliari, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy Ramaiah Nagaraja, David Schlessinger Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland, United States of America Aarno Palotie, Nicole Soranzo Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, United Kingdom Aarno Palotie, Elisabeth Widen Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland Aarno Palotie Department of Medical Genetics, University of Helsinki and University Central Hospital, Helsinki, Finland Luca Persani Department of Clinical Sciences and Community Health, University of Milan, Milano, Italy Luca Persani Division of Endocrinology and Metabolic Diseases, IRCCS Ospedale San Luca, Milan, Italy Bruce M. Psaty Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington, United States of America Bruce M. Psaty Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America J. Brent Richards Department of Medicine, Jewish General Hospital, McGill University, Montréal, Québec, Canada J. Brent Richards Departments of Human Genetics, Epidemiology, and Biostatistics, Jewish General Hospital, Lady Davis Institute, McGill University, Montréal, Québec Mona M. Sabra Memorial Sloan Kettering Cancer Center, Medicine-Endocrinology, New York, New York, United States of America Naveed Sattar BHF Glasgow Cardiovascular Research Centre, Faculty of Medicine, Glasgow, United Kingdom John M. Starr Alzheimer Scotland Dementia Research Centre, University of Edinburgh, Edinburgh, United Kingdom David J. Stott Academic Section of Geriatric Medicine, Faculty of Medicine, University of Glasgow, Glasgow, United Kingdom Fred C. G. J. Sweep Department of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands Melanie M. van der Klauw, Bruce H. R. Wolffenbuttel LifeLines Cohort Study, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Melanie M. van der Klauw, Bruce H. R. Wolffenbuttel Department of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Diana van Heemst, Rudi G. J. Westendorp Leiden University Medical Center, Gerontology and Geriatrics, Leiden, The Netherlands Guangju Zhai Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. Johns, Newfoundland, Canada Johan G. Eriksson Folkhalsan Research Centre, Helsinki, Finland Johan G. Eriksson Vasa Central Hospital, Vasa, Finland Caroline S. Fox Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, Massachusetts, United States of America Caroline S. Fox Division of Endocrinology, Hypertension, and Metabolism, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America J. Wouter Jukema Durrer Center for Cardiogenetic Research, Amsterdam, The Netherlands J. Wouter Jukema Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands Lambertus A. Kiemeney Department of Urology, Radboud University Medical Centre, Nijmegen, The Netherlands Peter P. Pramstaller Department of Neurology, General Central Hospital, Bolzano, Italy Peter P. Pramstaller Department of Neurology, University of Lübeck, Lübeck, Germany Alan R. Shuldiner Geriatric Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore, Maryland, United States of America Bijay Vaidya Diabetes, Endocrinology and Vascular Health Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom Jerome I. Rotter Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America Daniela Toniolo Institute of Molecular Genetics-CNR, Pavia, Italy (literal)
Titolo
  • A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (literal)
Abstract
  • Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in thyroid function are associated with weight changes, atrial fibrillation, osteoporosis, and psychiatric disorders. To identify novel variants underlying thyroid function, we performed a large meta-analysis of genome-wide association studies for serum levels of the highly heritable thyroid function markers TSH and FT4, in up to 26,420 and 17,520 euthyroid subjects, respectively. Here we report 26 independent associations, including several novel loci for TSH (PDE10A, VEGFA, IGFBP5, NFIA, SOX9, PRDM11, FGF7, INSR, ABO, MIR1179, NRG1, MBIP, ITPK1, SASH1, GLIS3) and FT4 (LHX3, FOXE1, AADAT, NETO1/FBXO15, LPCAT2/CAPNS2). Notably, only limited overlap was detected between TSH and FT4 associated signals, in spite of the feedback regulation of their circulating levels by the hypothalamic-pituitary-thyroid axis. Five of the reported loci (PDE8B, PDE10A, MAF/LOC440389, NETO1/FBXO15, and LPCAT2/CAPNS2) show strong gender-specific differences, which offer clues for the known sexual dimorphism in thyroid function and related pathologies. Importantly, the TSH-associated loci contribute not only to variation within the normal range, but also to TSH values outside the reference range, suggesting that they may be involved in thyroid dysfunction. Overall, our findings explain, respectively, 5.64% and 2.30% of total TSH and FT4 trait variance, and they improve the current knowledge of the regulation of hypothalamic-pituitary-thyroid axis function and the consequences of genetic variation for hypo- or hyperthyroidism. (literal)
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