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Whole-genome sequence-based analysis of thyroid function

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  • 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
  • Og 202 flere
  • 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
  • Sebhattin Cirak
  • Peter Clapham
  • Gail Clement
  • Guy Coates
  • David Collier
  • Catherine Cosgrove
  • Tony Cox
  • Nick Craddock
  • Lucy Crooks
  • Sarah Curran
  • David Curtis
  • Allan Daly
  • Aaron Day-Williams
  • Ian N M Day
  • Thomas Down
  • Yuanping Du
  • Ian Dunham
  • Sarah Edkins
  • Peter Ellis
  • David Evans
  • Sadaf Faroogi
  • Ghazaleh Fatemifar
  • David R. Fitzpatrick
  • Paul Flicek
  • James Flyod
  • A. Reghan Foley
  • Christopher S. Franklin
  • Marta Futema
  • Louise Gallagher
  • Matthias Geihs
  • Daniel Geschwind
  • Heather Griffin
  • Detelina Grozeva
  • Xueqin Guo
  • Xiaosen Guo
  • Hugh Gurling
  • Deborah Hart
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  • Liren Huang
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  • Margarida Lopes
  • Valentina Lotchkova
  • Daniel MacArthur
  • Jonathan Marchini
  • John Maslen
  • Mangino Massimo
  • Iain Mathieson
  • Gaëlle Marenne
  • Peter McGuffin
  • Andrew McIntosh
  • Andrew G. McKechanie
  • Andrew McQuillin
  • Sarah Metrustry
  • Hannah Mitchison
  • Alireza Moayyeri
  • James Morris
  • Francesco Muntoni
  • Kate Northstone
  • Michael O'Donnovan
  • Alexandros Onoufriadis
  • Stephen O'Rahilly
  • Karim Oualkacha
  • Michael J. Owen
  • Aarno Palotie
  • Kalliope Panoutsopoulou
  • Victoria Parker
  • Jeremy R. Parr
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  • Tiina Paunio
  • Felicity Payne
  • Olli Pietilainen
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  • Lydia Quaye
  • Michael A. Quail
  • Lucy Raymond
  • Karola Rehnström
  • Brent Richards
  • Susan Ring
  • Graham R S Ritchie
  • Nicola Roberts
  • David B. Savage
  • Peter Scambler
  • Stephen Schiffels
  • Miriam Schmidts
  • Nadia Schoenmakers
  • Robert K. Semple
  • Eva Serra
  • Sally I. Sharp
  • So Youn Shin
  • David Skuse
  • Kerrin Small
  • Lorraine Southam
  • Olivera Spasic-Boskovic
  • David St Clair
  • Jim Stalker
  • Elizabeth Stevens
  • Beate St Pourcian
  • Jianping Sun
  • Jaana Suvisaari
  • Ionna Tachmazidou
  • Martin D. Tobin
  • Ana Valdes
  • Margriet Van Kogelenberg
  • Parthiban Vijayarangakannan
  • Peter M. Visscher
  • Louise V. Wain
  • James T R Walters
  • Guangbiao Wang
  • Jun Wang
  • Yu Wang
  • Kirsten Ward
  • Elanor Wheeler
  • Tamieka Whyte
  • Hywel Williams
  • Kathleen A. Williamson
  • Crispian Wilson
  • Kim Wong
  • Chang Jiang Xu
  • Jian Yang
  • Fend Zhang
  • Pingbo Zhang

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.

OriginalsprogEngelsk
Artikelnummer5681
TidsskriftNature Communications
Vol/bind6
Antal sider11
ISSN2041-1723
DOI
StatusUdgivet - 2015

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