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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/803
Title: Whole-genome sequence-based analysis of thyroid function.
Authors: Taylor, Peter N.
Porcu, Eleonora
Chew, Shelby
Campbell, Purdey J.
Traglia, Michela
Brown, Suzanne J.
Mullin, Benjamin H.
Shihab, Hashem A.
Min, Josine
Walter, Klaudia
Memari, Yasin
Huang, Jie
Barnes, Michael R.
Beilby, John P.
Pimphen Charoen
พิมพ์เพ็ญ เจริญ
Danecek, Petr
Dudbridge, Frank
Forgetta, Vincenzo
Greenwood, Celia
Grundberg, Elin
Johnson, Andrew D.
Hui, Jennie
Lim, Ee M.
McCarthy, Shane
Muddyman, Dawn
Panicker, Vijay
Perry, John R.B.
Bell, Jordana T.
Yuan, Wei
Relton, Caroline
Gaunt, Tom
Schlessinger, David
Abecasis, Goncalo
Cucca, Francesco
Surdulescu, Gabriela L.
Woltersdorf, Wolfram
Zeggini, Eleftheria
Zheng, Hou-Feng
Toniolo, Daniela
Dayan, Colin M.
Naitza, Silvia
Walsh, John P.
Spector, Tim
Smith, George Davey
Durbin, Richard
Richards, J. Brent
Sanna, Serena
Soranzo, Nicole
Timpson, Nicholas J.
Wilson, Scott G.
Mahidol University. Faculty of Tropical Medicine. Department of Tropical Hygiene
Taylor, Peter N.
Wilson, Scott G.
Keywords: Sequence-based;Thyroid;Whole-genome;Open Access article
Issue Date: 6-Mar-2015
Citation: Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ. et al. Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015 Mar 6;6:5681.
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<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.
URI: http://repository.li.mahidol.ac.th/dspace/handle/123456789/803
metadata.dc.identifier.url: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366514/pdf/ncomms6681.pdf
ISSN: 2041-1723 (electronic)
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