Whole-genome sequence-based analysis of thyroid function
- 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
- Davey Smith, George
- Durbin, Richard
- Brent Richards, J.
- Sanna, Serena
- Soranzo, Nicole
- Timpson, Nicholas J.
- Wilson, Scott G.
- Turki, Saeed Al
- Anderson, Carl
- Anney, Richard
- Antony, Dinu
- Artigas, Maria Soler
- Ayub, Muhammad
- Balasubramaniam, Senduran
- Barrett, Jeffrey C.
- Barroso, Inês
- Beales, Phil
- Bentham, Jamie
- Bhattacharya, Shoumo
- Birney, Ewan
- Blackwood, Douglas
- Bobrow, Martin
- Bochukova, Elena
- Bolton, Patrick
- Bounds, Rebecca
- Boustred, Chris
- Breen, Gerome
- Calissano, Mattia
- Carss, Keren
- Chatterjee, Krishna
- Chen, Lu
- Ciampi, Antonio
- Cirak, Sebhattin
- Clapham, Peter
- Clement, Gail
- Coates, Guy
- Collier, David
- Cosgrove, Catherine
- Cox, Tony
- Craddock, Nicholas John
- Crooks, Lucy
- Curran, Sarah
- Curtis, David
- Daly, Allan
- Day-Williams, Aaron
- Day, Ian N.M.
- Down, Thomas
- Du, Yuanping
- Dunham, Ian
- Edkins, Sarah
- Ellis, Peter
- Evans, David
- Faroogi, Sadaf
- Fatemifar, Ghazaleh
- Fitzpatrick, David R.
- Flicek, Paul
- Flyod, James
- Foley, A. Reghan
- Franklin, Christopher S.
- Futema, Marta
- Gallagher, Louise
- Geihs, Matthias
- Geschwind, Daniel
- Griffin, Heather
- Grozeva, Detelina
- Guo, Xueqin
- Guo, Xiaosen
- Gurling, Hugh
- Hart, Deborah
- Hendricks, Audrey
- Holmans, Peter Alan
- Howie, Bryan
- Huang, Liren
- Hubbard, Tim
- Humphries, Steve E.
- Hurles, Matthew E.
- Hysi, Pirro
- Jackson, David K.
- Jamshidi, Yalda
- Jing, Tian
- Joyce, Chris
- Kaye, Jane
- Keane, Thomas
- Keogh, Julia
- Kemp, John
- Kennedy, Karen
- Kolb-Kokocinski, Anja
- Lachance, Genevieve
- Langford, Cordelia
- Lawson, Daniel
- Lee, Irene
- Lek, Monkol
- Liang, Jieqin
- Lin, Hong
- Li, Rui
- Li, Yingrui
- Liu, Ryan
- Lönnqvist, Jouko
- Lopes, Margarida
- Lotchkova, Valentina
- MacArthur, Daniel
- Marchini, Jonathan
- Maslen, John
- Massimo, Mangino
- Mathieson, Iain
- Marenne, Gaëlle
- McGuffin, Peter
- McIntosh, Andrew
- McKechanie, Andrew G.
- McQuillin, Andrew
- Metrustry, Sarah
- Mitchison, Hannah
- Moayyeri, Alireza
- Morris, James
- Muntoni, Francesco
- Northstone, Kate
- O'Donovan, Michael Conlon
- Onoufriadis, Alexandros
- O'Rahilly, Stephen
- Oualkacha, Karim
- Owen, Michael John
- Palotie, Aarno
- Panoutsopoulou, Kalliope
- Parker, Victoria
- Parr, Jeremy R.
- Paternoster, Lavinia
- Paunio, Tiina
- Payne, Felicity
- Pietilainen, Olli
- Plagnol, Vincent
- Quaye, Lydia
- Quai, Michael A.
- Raymond, Lucy
- Rehnström, Karola
- Richards, Brent
- Ring, Susan
- Ritchie, Graham R.S.
- Roberts, Nicola
- Savage, David B.
- Scambler, Peter
- Schiffels, Stephen
- Schmidts, Miriam
- Schoenmakers, Nadia
- Semple, Robert K.
- Serra, Eva
- Sharp, Sally I.
- Shin, So-Youn
- Skuse, David
- Small, Kerrin
- Southam, Lorraine
- Spasic-Boskovic, Olivera
- Clair, David St
- Stalker, Jim
- Stevens, Elizabeth
- Pourcian, Beate St
- Sun, Jianping
- Suvisaari, Jaana
- Tachmazidou, Ionna
- Tobin, Martin D.
- Valdes, Ana
- Kogelenberg, Margriet Van
- Vijayarangakannan, Parthiban
- Visscher, Peter M.
- Wain, Louise V.
- Walters, James Tynan Rhys
- Wang, Guangbiao
- Wang, Jun
- Wang, Yu
- Ward, Kirsten
- Wheeler, Elanor
- Whyte, Tamieka
- Williams, Hywel
- Williamson, Kathleen A.
- Wilson, Crispian
- Wong, Kim
- Xu, ChangJiang
- Yang, Jian
- Zhang, Fend
- Zhang, Pingbo
DOIAbstract
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 explai...
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