Whole-genome sequence-based analysis of thyroid function

Show full item record



Permalink

http://hdl.handle.net/10138/169274

Citation

Taylor , P N , Porcu , E , Chew , S , Campbell , P J , Traglia , M , Brown , S J , Mullin , B H , Shihab , H A , Min , J , Walter , K , Memari , Y , Huang , J , Barnes , M R , Beilby , J P , Charoen , P , Danecek , P , Dudbridge , F , Forgetta , V , Greenwood , C , Grundberg , E , Johnson , A D , Hui , J , Lim , E M , McCarthy , S , Muddyman , D , Panicker , V , Perry , J R B , Bell , J T , Yuan , W , Relton , C , Gaunt , T , Schlessinger , D , Abecasis , G , Cucca , F , Surdulescu , G L , Woltersdorf , W , Zeggini , E , Zheng , H-F , Toniolo , D , Dayan , C M , Naitza , S , Walsh , J P , Spector , T , Smith , G D , Durbin , R , Richards , J B , Sanna , S , Soranzo , N , Timpson , N J , UK10K Consortium & Paunio , T 2015 , ' Whole-genome sequence-based analysis of thyroid function ' , Nature Communications , vol. 6 , 5681 . https://doi.org/10.1038/ncomms6681

Title: Whole-genome sequence-based analysis of thyroid function
Author: 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.; Charoen, Pimphen; 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.; UK10K Consortium; Paunio, Tiina
Contributor: University of Helsinki, Clinicum
Date: 2015-03
Language: eng
Number of pages: 10
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/169274
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 x 10(-9)) and a new independent variant in PDE8B (MAF = 10.4%, P = 5.94 x 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/ SLC25A52 (MAF = 3.2%, P = 1.27 x 10(-9)) tagging a rare TTR variant (MAF = 0.4%, P = 2.14 x 10(-11)). All common variants explain >= 20% of the variance in TSH and FT4. Analysis of rare variants (MAF
Subject: WIDE ASSOCIATION
GENE-EXPRESSION
SERUM TSH
THYROXINE-BINDING
VARIANTS
TRANSTHYRETIN
DISEASE
IMPUTATION
RESOLUTION
MUTATIONS
3111 Biomedicine
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
ncomms6681.pdf 1.149Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record