Standard
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; Smith, George Davey; Durbin, Richard; Richards, J. Brent; 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, Nick; 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; 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'Donnovan, Michael; Onoufriadis, Alexandros; O'Rahilly, Stephen; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Pietilainen, Olli; Plagnol, Vincent; Quaye, Lydia; Quail, 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; Van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walters, James T R; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Elanor; Whyte, Tamieka; Williams, Hywel; Williamson, Kathleen A.; Wilson, Crispian; Wong, Kim; Xu, Chang Jiang; Yang, Jian; Zhang, Fend; Zhang, Pingbo.
In:
Nature Communications, Vol. 6, 5681, 2015.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Taylor, PN, Porcu, E, Chew, S, Campbell, PJ, Traglia, M, Brown, SJ, Mullin, BH, Shihab, HA, Min, J, Walter, K, Memari, Y, Huang, J, Barnes, MR, Beilby, JP, Charoen, P, Danecek, P, Dudbridge, F, Forgetta, V, Greenwood, C, Grundberg, E, Johnson, AD, Hui, J, Lim, EM, McCarthy, S, Muddyman, D, Panicker, V, Perry, JRB, Bell, JT, Yuan, W, Relton, C, Gaunt, T, Schlessinger, D, Abecasis, G, Cucca, F, Surdulescu, GL, Woltersdorf, W, Zeggini, E, Zheng, HF, Toniolo, D, Dayan, CM, Naitza, S, Walsh, JP, Spector, T, Smith, GD, Durbin, R, Richards, JB, Sanna, S, Soranzo, N, Timpson, NJ, Wilson, SG, Turki, SA, Anderson, C, Anney, R, Antony, D, Artigas, MS, Ayub, M, Balasubramaniam, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Collier, D, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day-Williams, A, Day, INM, Down, T, Du, Y, Dunham, I, Edkins, S, Ellis, P, Evans, D, Faroogi, S, Fatemifar, G, Fitzpatrick, DR, Flicek, P, Flyod, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Geihs, M, Geschwind, D, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A, Holmans, P, Howie, B, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Jing, T, Joyce, C, Kaye, J, Keane, T, Keogh, J, Kemp, J, Kennedy, K, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Liang, J, Lin, H, Li, R, Li, Y, Liu, R, Lönnqvist, J, Lopes, M, Lotchkova, V, MacArthur, D, Marchini, J, Maslen, J, Massimo, M, Mathieson, I, Marenne, G, McGuffin, P, McIntosh, A, McKechanie, AG, McQuillin, A, Metrustry, S, Mitchison, H, Moayyeri, A, Morris, J, Muntoni, F, Northstone, K, O'Donnovan, M, Onoufriadis, A, O'Rahilly, S, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Pietilainen, O, Plagnol, V, Quaye, L, Quail, MA, Raymond, L, Rehnström, K, Richards, B, Ring, S, Ritchie, GRS, Roberts, N, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Semple, RK, Serra, E, Sharp, SI, Shin, SY, Skuse, D, Small, K, Southam, L, Spasic-Boskovic, O, Clair, DS, Stalker, J, Stevens, E, Pourcian, BS, Sun, J, Suvisaari, J, Tachmazidou, I, Tobin, MD, Valdes, A, Van Kogelenberg, M, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, H, Williamson, KA, Wilson, C, Wong, K, Xu, CJ, Yang, J, Zhang, F & Zhang, P 2015, '
Whole-genome sequence-based analysis of thyroid function',
Nature Communications, vol. 6, 5681.
https://doi.org/10.1038/ncomms6681APA
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., ... Zhang, P. (2015).
Whole-genome sequence-based analysis of thyroid function.
Nature Communications,
6, [5681].
https://doi.org/10.1038/ncomms6681Vancouver
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ et al.
Whole-genome sequence-based analysis of thyroid function.
Nature Communications. 2015;6. 5681.
https://doi.org/10.1038/ncomms6681Author
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. ; 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, Nick ; 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 ; 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'Donnovan, Michael ; Onoufriadis, Alexandros ; O'Rahilly, Stephen ; Oualkacha, Karim ; Owen, Michael J. ; Palotie, Aarno ; Panoutsopoulou, Kalliope ; Parker, Victoria ; Parr, Jeremy R. ; Paternoster, Lavinia ; Paunio, Tiina ; Payne, Felicity ; Pietilainen, Olli ; Plagnol, Vincent ; Quaye, Lydia ; Quail, 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 ; Van Kogelenberg, Margriet ; Vijayarangakannan, Parthiban ; Visscher, Peter M. ; Wain, Louise V. ; Walters, James T R ; Wang, Guangbiao ; Wang, Jun ; Wang, Yu ; Ward, Kirsten ; Wheeler, Elanor ; Whyte, Tamieka ; Williams, Hywel ; Williamson, Kathleen A. ; Wilson, Crispian ; Wong, Kim ; Xu, Chang Jiang ; Yang, Jian ; Zhang, Fend ; Zhang, Pingbo. / Whole-genome sequence-based analysis of thyroid function. In: Nature Communications. 2015 ; Vol. 6.
Bibtex
@article{a88e67dcc1b649f39ef99158c0d0e828,
title = "Whole-genome sequence-based analysis of thyroid function",
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.",
author = "Taylor, {Peter N.} and Eleonora Porcu and Shelby Chew and Campbell, {Purdey J.} and Michela Traglia and Brown, {Suzanne J.} and Mullin, {Benjamin H.} and Shihab, {Hashem A.} and Josine Min and Klaudia Walter and Yasin Memari and Jie Huang and Barnes, {Michael R.} and Beilby, {John P.} and Pimphen Charoen and Petr Danecek and Frank Dudbridge and Vincenzo Forgetta and Celia Greenwood and Elin Grundberg and Johnson, {Andrew D.} and Jennie Hui and Lim, {Ee M.} and Shane McCarthy and Dawn Muddyman and Vijay Panicker and Perry, {John R B} and Bell, {Jordana T.} and Wei Yuan and Caroline Relton and Tom Gaunt and David Schlessinger and Goncalo Abecasis and Francesco Cucca and Surdulescu, {Gabriela L.} and Wolfram Woltersdorf and Eleftheria Zeggini and Zheng, {Hou Feng} and Daniela Toniolo and Dayan, {Colin M.} and Silvia Naitza and Walsh, {John P.} and Tim Spector and Smith, {George Davey} and Richard Durbin and Richards, {J. Brent} and Serena Sanna and Nicole Soranzo and Timpson, {Nicholas J.} and Wilson, {Scott G.} and Turki, {Saeed Al} and Carl Anderson and Richard Anney and Dinu Antony and Artigas, {Maria Soler} and Muhammad Ayub and Senduran Balasubramaniam and Barrett, {Jeffrey C.} and In{\^e}s Barroso and Phil Beales and Jamie Bentham and Shoumo Bhattacharya and Ewan Birney and Douglas Blackwood and Martin Bobrow and Elena Bochukova and Patrick Bolton and Rebecca Bounds and Chris Boustred and Gerome Breen and Mattia Calissano and Keren Carss and Krishna Chatterjee and Lu Chen and Antonio Ciampi and Sebhattin Cirak and Peter Clapham and Gail Clement and Guy Coates and David Collier and Catherine Cosgrove and Tony Cox and Nick Craddock and Lucy Crooks and Sarah Curran and David Curtis and Allan Daly and Aaron Day-Williams and Day, {Ian N M} and Thomas Down and Yuanping Du and Ian Dunham and Sarah Edkins and Peter Ellis and David Evans and Sadaf Faroogi and Ghazaleh Fatemifar and Fitzpatrick, {David R.} and Paul Flicek and James Flyod and Foley, {A. Reghan} and Franklin, {Christopher S.} and Marta Futema and Louise Gallagher and Matthias Geihs and Daniel Geschwind and Heather Griffin and Detelina Grozeva and Xueqin Guo and Xiaosen Guo and Hugh Gurling and Deborah Hart and Audrey Hendricks and Peter Holmans and Bryan Howie and Liren Huang and Tim Hubbard and Humphries, {Steve E.} and Hurles, {Matthew E.} and Pirro Hysi and Jackson, {David K.} and Yalda Jamshidi and Tian Jing and Chris Joyce and Jane Kaye and Thomas Keane and Julia Keogh and John Kemp and Karen Kennedy and Anja Kolb-Kokocinski and Genevieve Lachance and Cordelia Langford and Daniel Lawson and Irene Lee and Monkol Lek and Jieqin Liang and Hong Lin and Rui Li and Yingrui Li and Ryan Liu and Jouko L{\"o}nnqvist and Margarida Lopes and Valentina Lotchkova and Daniel MacArthur and Jonathan Marchini and John Maslen and Mangino Massimo and Iain Mathieson and Ga{\"e}lle Marenne and Peter McGuffin and Andrew McIntosh and McKechanie, {Andrew G.} and Andrew McQuillin and Sarah Metrustry and Hannah Mitchison and Alireza Moayyeri and James Morris and Francesco Muntoni and Kate Northstone and Michael O'Donnovan and Alexandros Onoufriadis and Stephen O'Rahilly and Karim Oualkacha and Owen, {Michael J.} and Aarno Palotie and Kalliope Panoutsopoulou and Victoria Parker and Parr, {Jeremy R.} and Lavinia Paternoster and Tiina Paunio and Felicity Payne and Olli Pietilainen and Vincent Plagnol and Lydia Quaye and Quail, {Michael A.} and Lucy Raymond and Karola Rehnstr{\"o}m and Brent Richards and Susan Ring and Ritchie, {Graham R S} and Nicola Roberts and Savage, {David B.} and Peter Scambler and Stephen Schiffels and Miriam Schmidts and Nadia Schoenmakers and Semple, {Robert K.} and Eva Serra and Sharp, {Sally I.} and Shin, {So Youn} and David Skuse and Kerrin Small and Lorraine Southam and Olivera Spasic-Boskovic and Clair, {David St} and Jim Stalker and Elizabeth Stevens and Pourcian, {Beate St} and Jianping Sun and Jaana Suvisaari and Ionna Tachmazidou and Tobin, {Martin D.} and Ana Valdes and {Van Kogelenberg}, Margriet and Parthiban Vijayarangakannan and Visscher, {Peter M.} and Wain, {Louise V.} and Walters, {James T R} and Guangbiao Wang and Jun Wang and Yu Wang and Kirsten Ward and Elanor Wheeler and Tamieka Whyte and Hywel Williams and Williamson, {Kathleen A.} and Crispian Wilson and Kim Wong and Xu, {Chang Jiang} and Jian Yang and Fend Zhang and Pingbo Zhang",
year = "2015",
doi = "10.1038/ncomms6681",
language = "English",
volume = "6",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Whole-genome sequence-based analysis of thyroid function
AU - Taylor, Peter N.
AU - Porcu, Eleonora
AU - Chew, Shelby
AU - Campbell, Purdey J.
AU - Traglia, Michela
AU - Brown, Suzanne J.
AU - Mullin, Benjamin H.
AU - Shihab, Hashem A.
AU - Min, Josine
AU - Walter, Klaudia
AU - Memari, Yasin
AU - Huang, Jie
AU - Barnes, Michael R.
AU - Beilby, John P.
AU - Charoen, Pimphen
AU - Danecek, Petr
AU - Dudbridge, Frank
AU - Forgetta, Vincenzo
AU - Greenwood, Celia
AU - Grundberg, Elin
AU - Johnson, Andrew D.
AU - Hui, Jennie
AU - Lim, Ee M.
AU - McCarthy, Shane
AU - Muddyman, Dawn
AU - Panicker, Vijay
AU - Perry, John R B
AU - Bell, Jordana T.
AU - Yuan, Wei
AU - Relton, Caroline
AU - Gaunt, Tom
AU - Schlessinger, David
AU - Abecasis, Goncalo
AU - Cucca, Francesco
AU - Surdulescu, Gabriela L.
AU - Woltersdorf, Wolfram
AU - Zeggini, Eleftheria
AU - Zheng, Hou Feng
AU - Toniolo, Daniela
AU - Dayan, Colin M.
AU - Naitza, Silvia
AU - Walsh, John P.
AU - Spector, Tim
AU - Smith, George Davey
AU - Durbin, Richard
AU - Richards, J. Brent
AU - Sanna, Serena
AU - Soranzo, Nicole
AU - Timpson, Nicholas J.
AU - Wilson, Scott G.
AU - Turki, Saeed Al
AU - Anderson, Carl
AU - Anney, Richard
AU - Antony, Dinu
AU - Artigas, Maria Soler
AU - Ayub, Muhammad
AU - Balasubramaniam, Senduran
AU - Barrett, Jeffrey C.
AU - Barroso, Inês
AU - Beales, Phil
AU - Bentham, Jamie
AU - Bhattacharya, Shoumo
AU - Birney, Ewan
AU - Blackwood, Douglas
AU - Bobrow, Martin
AU - Bochukova, Elena
AU - Bolton, Patrick
AU - Bounds, Rebecca
AU - Boustred, Chris
AU - Breen, Gerome
AU - Calissano, Mattia
AU - Carss, Keren
AU - Chatterjee, Krishna
AU - Chen, Lu
AU - Ciampi, Antonio
AU - Cirak, Sebhattin
AU - Clapham, Peter
AU - Clement, Gail
AU - Coates, Guy
AU - Collier, David
AU - Cosgrove, Catherine
AU - Cox, Tony
AU - Craddock, Nick
AU - Crooks, Lucy
AU - Curran, Sarah
AU - Curtis, David
AU - Daly, Allan
AU - Day-Williams, Aaron
AU - Day, Ian N M
AU - Down, Thomas
AU - Du, Yuanping
AU - Dunham, Ian
AU - Edkins, Sarah
AU - Ellis, Peter
AU - Evans, David
AU - Faroogi, Sadaf
AU - Fatemifar, Ghazaleh
AU - Fitzpatrick, David R.
AU - Flicek, Paul
AU - Flyod, James
AU - Foley, A. Reghan
AU - Franklin, Christopher S.
AU - Futema, Marta
AU - Gallagher, Louise
AU - Geihs, Matthias
AU - Geschwind, Daniel
AU - Griffin, Heather
AU - Grozeva, Detelina
AU - Guo, Xueqin
AU - Guo, Xiaosen
AU - Gurling, Hugh
AU - Hart, Deborah
AU - Hendricks, Audrey
AU - Holmans, Peter
AU - Howie, Bryan
AU - Huang, Liren
AU - Hubbard, Tim
AU - Humphries, Steve E.
AU - Hurles, Matthew E.
AU - Hysi, Pirro
AU - Jackson, David K.
AU - Jamshidi, Yalda
AU - Jing, Tian
AU - Joyce, Chris
AU - Kaye, Jane
AU - Keane, Thomas
AU - Keogh, Julia
AU - Kemp, John
AU - Kennedy, Karen
AU - Kolb-Kokocinski, Anja
AU - Lachance, Genevieve
AU - Langford, Cordelia
AU - Lawson, Daniel
AU - Lee, Irene
AU - Lek, Monkol
AU - Liang, Jieqin
AU - Lin, Hong
AU - Li, Rui
AU - Li, Yingrui
AU - Liu, Ryan
AU - Lönnqvist, Jouko
AU - Lopes, Margarida
AU - Lotchkova, Valentina
AU - MacArthur, Daniel
AU - Marchini, Jonathan
AU - Maslen, John
AU - Massimo, Mangino
AU - Mathieson, Iain
AU - Marenne, Gaëlle
AU - McGuffin, Peter
AU - McIntosh, Andrew
AU - McKechanie, Andrew G.
AU - McQuillin, Andrew
AU - Metrustry, Sarah
AU - Mitchison, Hannah
AU - Moayyeri, Alireza
AU - Morris, James
AU - Muntoni, Francesco
AU - Northstone, Kate
AU - O'Donnovan, Michael
AU - Onoufriadis, Alexandros
AU - O'Rahilly, Stephen
AU - Oualkacha, Karim
AU - Owen, Michael J.
AU - Palotie, Aarno
AU - Panoutsopoulou, Kalliope
AU - Parker, Victoria
AU - Parr, Jeremy R.
AU - Paternoster, Lavinia
AU - Paunio, Tiina
AU - Payne, Felicity
AU - Pietilainen, Olli
AU - Plagnol, Vincent
AU - Quaye, Lydia
AU - Quail, Michael A.
AU - Raymond, Lucy
AU - Rehnström, Karola
AU - Richards, Brent
AU - Ring, Susan
AU - Ritchie, Graham R S
AU - Roberts, Nicola
AU - Savage, David B.
AU - Scambler, Peter
AU - Schiffels, Stephen
AU - Schmidts, Miriam
AU - Schoenmakers, Nadia
AU - Semple, Robert K.
AU - Serra, Eva
AU - Sharp, Sally I.
AU - Shin, So Youn
AU - Skuse, David
AU - Small, Kerrin
AU - Southam, Lorraine
AU - Spasic-Boskovic, Olivera
AU - Clair, David St
AU - Stalker, Jim
AU - Stevens, Elizabeth
AU - Pourcian, Beate St
AU - Sun, Jianping
AU - Suvisaari, Jaana
AU - Tachmazidou, Ionna
AU - Tobin, Martin D.
AU - Valdes, Ana
AU - Van Kogelenberg, Margriet
AU - Vijayarangakannan, Parthiban
AU - Visscher, Peter M.
AU - Wain, Louise V.
AU - Walters, James T R
AU - Wang, Guangbiao
AU - Wang, Jun
AU - Wang, Yu
AU - Ward, Kirsten
AU - Wheeler, Elanor
AU - Whyte, Tamieka
AU - Williams, Hywel
AU - Williamson, Kathleen A.
AU - Wilson, Crispian
AU - Wong, Kim
AU - Xu, Chang Jiang
AU - Yang, Jian
AU - Zhang, Fend
AU - Zhang, Pingbo
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
U2 - 10.1038/ncomms6681
DO - 10.1038/ncomms6681
M3 - Journal article
C2 - 25743335
AN - SCOPUS:84924347503
VL - 6
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 5681
ER -
