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Title: Whole-genome sequence-based analysis of thyroid function
Authors: 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
Scott G. Wilson
Saeed Al Turki
Carl Anderson
Richard Anney
Dinu Antony
Maria Soler Artigas
Muhammad Ayub
Senduran Balasubramaniam
Jeffrey C. Barrett
Inês Barroso
Phil Beales
Jamie Bentham
Shoumo Bhattacharya
Ewan Birney
Douglas Blackwood
Martin Bobrow
Elena Bochukova
Patrick Bolton
Rebecca Bounds
Chris Boustred
Gerome Breen
Mattia Calissano
Keren Carss
Krishna Chatterjee
Lu Chen
Antonio Ciampi
Cardiff University
Consiglio Nazionale delle Ricerche
Universita degli Studi di Sassari
University of Michigan, Ann Arbor
Sir Charles Gairdner Hospital
IRCCS San Raffaele Scientific Institute
University of Western Australia
University of Bristol
Wellcome Trust
Barts and The London School of Medicine and Dentistry
PathWest Laboratory Medicine WA
London School of Hygiene & Tropical Medicine
Mahidol University
Lady Davis Institute for Medical Research
McGill University
National Heart
Addenbrooke's Hospital
King's College London
IFB Halle GmbH
King Abdulaziz Medical City- Riyadh
Trinity College Dublin
UCL Institute of Child Health
Queen's University, Kingston
University of Cambridge
Wellcome Trust Centre for Human Genetics
University of Edinburgh
Cambridge Institute for Medical Research
Institut für Humangenetik
Eli Lilly and Company
NHS Foundation Trust
University of Sussex
Biogen Inc.
University of Queensland
Edinburgh Medical School, Medical Research Council Human Genetics Unit
Queen Mary, University of London
Keywords: Biochemistry, Genetics and Molecular Biology;Chemistry
Issue Date: 1-Jan-2015
Citation: Nature Communications. Vol.6, (2015)
Abstract: © 2015 Macmillan Publishers Limited. All rights reserved. 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 < 1%) using sequence kernel association testing reveals a novel association with FT4 in NRG1. Our results demonstrate that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function.
ISSN: 20411723
Appears in Collections:Scopus 2011-2015

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