Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Creators: name: Fan, Qiao
name: Pozarickij, Alfred
name: Tan, Nicholas Y. Q.
name: Guo, Xiaobo
name: Verhoeven, Virginie J. M.
name: Vitart, Veronique
name: Guggenheim, Jeremy A.
name: Miyake, Masahiro
name: Tideman, J. Willem L.
name: Khawaja, Anthony P.
name: Zhang, Liang
name: MacGregor, Stuart
name: Höhn, René
name: Chen, Peng
name: Biino, Ginevra
name: Wedenoja, Juho
name: Saffari, Seyed Ehsan
name: Tedja, Milly S.
name: Xie, Jing
name: Lanca, Carla
name: Wang, Ya Xing
name: Sahebjada, Srujana
name: Mazur, Johanna
name: Mirshahi, Alireza
name: Martin, Nicholas G.
name: Yazar, Seyhan
name: Pennell, Craig E.
name: Yap, Maurice
name: Haarman, Annechien E. G.
name: Enthoven, Clair A.
name: Polling, JanRoelof
name: Hewitt, Alex W.
name: Jaddoe, Vincent W. V.
name: Van Duijn, Cornelia M.
name: Hayward, Caroline
name: Polasek, Ozren
name: Tai, E-Shyong
name: Yoshikatsu, Hosoda
name: Hysi, Pirro G.
name: Young, Terri L.
name: Tsujikawa, Akitaka
name: Wang, Jie Jing
name: Mitchell, Paul
name: Pfeiffer, Norbert
name: Pärssinen, Olavi
name: Foster, Paul J.
name: Fossarello, Maurizio
name: Yip, Shea Ping
name: Williams, Cathy
name: Hammond, Christopher J.
name: Jonas, Jost B.
name: He, Mingguang
name: Mackey, David A.
name: Wong, Tien-Yin
name: Klaver, Caroline C. W.
name: Saw, Seang-Mei
name: Baird, Paul N.
name: Cheng, Ching-Yu
name: Bailey-Wilson, Joan E.
name: Veluchamy, Amutha Barathi
name: Burdon, Kathryn P.
name: Campbell, Harry
name: Chen, Li Jia
name: Chew, Emily Y.
name: Craig, Jamie E.
name: Cumberland, Phillippa M.
name: Deangelis, Margaret M.
name: Delcourt, Cécile
name: Ding, Xiaohu
name: Evans, David M.
name: Gharahkhani, Puya
name: Iglesias, Adriana I.
name: Haller, Toomas
name: Han, Xikun
name: Hoang, Quan
name: Igo, Robert P.
name: Iyengar, Sudha K.
name: Kähönen, Mika
name: Kaprio, Jaakko
name: Klein, Barbara E.
name: Klein, Ronald
name: Lass, Jonathan H.
name: Lee, Kris
name: Lehtimäki, Terho
name: Lewis, Deyana D.
name: Li, Qing
name: Li, Shi-Ming
name: Lyytikäinen, Leo-Pekka
name: Meguro, Akira
name: Metspalu, Andres
name: Middlebrooks, Candace D.
name: Mizuki, Nobuhisa
name: Musolf, Anthony M.
name: Nickels, Stefan
name: Oexle, Konrad
name: Pang, Chi Pui
name: Paterson, Andrew D.
name: Rahi, Jugnoo S.
name: Raitakari, Olli
name: Rudan, Igor
name: Stambolian, Dwight
name: Simpson, Claire L.
name: Wang, Ningli
name: Bin Wei, Wen
name: Williams, Katie M.
name: Wilson, James F.
name: Wojciechowski, Robert
name: Yamashiro, Kenji
name: Yam, Jason C. S.
name: Zhou, Xiangtian
name: Aslam, Tariq
name: Barman, Sarah A.
name: Barrett, Jenny H.
name: Bishop, Paul
name: Blows, Peter
name: Bunce, Catey
name: Carare, Roxana O.
name: Chakravarthy, Usha
name: Chan, Michelle
name: Chua, Sharon Y. L.
name: Crabb, David P.
name: Cumberland, Philippa M.
name: Day, Alexander
name: Desai, Parul
name: Dhillon, Bal
name: Dick, Andrew D.
name: Egan, Cathy
name: Ennis, Sarah
name: Fruttiger, Marcus
name: Gallacher, John E. J.
name: Garway-Heath, David F.
name: Gibson, Jane
name: Gore, Dan
name: Hardcastle, Alison
name: Harding, Simon P.
name: Hogg, Ruth E.
name: Keane, Pearse A.
name: Khaw, Sir Peng T.
name: Lascaratos, Gerassimos
name: Lotery, Andrew J.
name: Macgillivray, Tom
name: Mackie, Sarah
name: Martin, Keith
name: McGaughey, Michelle
name: McGuinness, Bernadette
name: McKay, Gareth J.
name: McKibbin, Martin
name: Mitry, Danny
name: Moore, Tony
name: Morgan, James E.
name: Muthy, Zaynah A.
name: O’Sullivan, Eoin
name: Owen, Chris G.
name: Patel, Praveen
name: Paterson, Euan
name: Peto, Tunde
name: Petzold, Axel
name: Rudnikca, Alicja R.
name: Self, Jay
name: Sivaprasad, Sobha
name: Steel, David
name: Stratton, Irene
name: Strouthidis, Nicholas
name: Sudlow, Cathie
name: Thomas, Dhanes
name: Trucco, Emanuele
name: Tufail, Adnan
name: Vernon, Stephen A.
name: Viswanathan, Ananth C.
name: Williams, Katie
name: Woodside, Jayne V.
name: Yates, Max M.
name: Yip, Jennifer
name: Zheng, Yalin
Publisher: name: Apollo - University of Cambridge Repository
Year: 2020
Subjects: Article
/631/208/205/2138
/631/208/727/2000
/692/699/3161/3163
/45
/45/43
article

description: Abstract: Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.