Whole-genome sequence-based analysis of thyroid function

Peter N. Taylor (), Eleonora Porcu, Shelby Chew, Purdey J. Campbell, Michela Traglia, Suzanne J. Brown, Benjamin H. Mullin, Hashem A. Shihab, Josine Min, Klaudia Walter, Yasin Memari, Jie Huang, Michael R. Barnes, John P. Beilby, Pimphen Charoen, Petr Danecek, Frank Dudbridge, Vincenzo Forgetta, Celia Greenwood, Elin Grundberg, Andrew D. Johnson, Jennie Hui, Ee M. Lim, Shane McCarthy, Dawn Muddyman, Vijay Panicker, John R.B. Perry, Jordana T. Bell, Wei Yuan, Caroline Relton, Tom Gaunt, David Schlessinger, Goncalo Abecasis, Francesco Cucca, Gabriela L. Surdulescu, Wolfram Woltersdorf, Eleftheria Zeggini, Hou-Feng Zheng, Daniela Toniolo, Colin M. Dayan, Silvia Naitza, John P. Walsh, Tim Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Serena Sanna, Nicole Soranzo, Nicholas J. Timpson and Scott G. Wilson ()
Additional contact information
Peter N. Taylor: Thyroid Research Group, Institute of Molecular & Experimental Medicine, Cardiff University School of Medicine, Cardiff University
Eleonora Porcu: Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato
Shelby Chew: Sir Charles Gairdner Hospital
Purdey J. Campbell: Sir Charles Gairdner Hospital
Michela Traglia: San Raffaele Research Institute
Suzanne J. Brown: Sir Charles Gairdner Hospital
Benjamin H. Mullin: Sir Charles Gairdner Hospital
Hashem A. Shihab: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
Josine Min: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
Klaudia Walter: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Yasin Memari: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Jie Huang: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Michael R. Barnes: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
John P. Beilby: Pathwest Laboratory Medicine WA
Pimphen Charoen: Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine
Petr Danecek: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Frank Dudbridge: Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine
Vincenzo Forgetta: Lady Davis Institute, Jewish General Hospital, McGill University
Celia Greenwood: Lady Davis Institute, Jewish General Hospital, McGill University
Elin Grundberg: McGill University
Andrew D. Johnson: Cardiovascular Epidemiology and Human Genomics Branch, National Heart, Lung and Blood Institute
Jennie Hui: Pathwest Laboratory Medicine WA
Ee M. Lim: Sir Charles Gairdner Hospital
Shane McCarthy: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Dawn Muddyman: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Vijay Panicker: Sir Charles Gairdner Hospital
John R.B. Perry: MRC Epidemiology Unit, Institute of Metabolic Science, Box 285, Addenbrooke's Hospital
Jordana T. Bell: King's College London, ST Thomas' Campus
Wei Yuan: King's College London, ST Thomas' Campus
Caroline Relton: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
Tom Gaunt: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
David Schlessinger: Laboratory of Genetics, NIA
Goncalo Abecasis: Center for Statistical Genetics, University of Michigan
Francesco Cucca: Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato
Gabriela L. Surdulescu: King's College London, ST Thomas' Campus
Wolfram Woltersdorf: Facharzt für Laboratoriumsmedizin, Geschäftsführer amedes Ost, Halle/Leipzig GmbH
Eleftheria Zeggini: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Hou-Feng Zheng: Biostatistics and Occupational Health, McGill University
Daniela Toniolo: San Raffaele Research Institute
Colin M. Dayan: Thyroid Research Group, Institute of Molecular & Experimental Medicine, Cardiff University School of Medicine, Cardiff University
Silvia Naitza: Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato
John P. Walsh: Sir Charles Gairdner Hospital
Tim Spector: King's College London, ST Thomas' Campus
George Davey Smith: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
Richard Durbin: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
J. Brent Richards: Lady Davis Institute, Jewish General Hospital, McGill University
Serena Sanna: Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato
Nicole Soranzo: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Nicholas J. Timpson: MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove
Scott G. Wilson: Sir Charles Gairdner Hospital

Nature Communications, 2015, vol. 6, issue 1, 1-11

Abstract: Abstract Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335). For TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 × 10−9) and a new independent variant in PDE8B (MAF=10.4%, P=5.94 × 10−14). For FT4, we report a low-frequency variant near B4GALT6/SLC25A52 (MAF=3.2%, P=1.27 × 10−9) tagging a rare TTR variant (MAF=0.4%, P=2.14 × 10−11). All common variants explain ≥20% of the variance in TSH and FT4. Analysis of rare variants (MAF

Date: 2015
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DOI: 10.1038/ncomms6681

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