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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Cathy Williams; Juho Wedenoja; E-Shyong Tai; Carla Lanca; UK Biobank Eye and Vision Consortium; Tien-Yin Wong; Alfred Pozarickij; Mingguang He; Hosoda Yoshikatsu; Terri L Young; Jing Xie; Milly S Tedja; Akitaka Tsujikawa; Veronique Vitart; Ginevra Biino; Jie Jing Wang; Seyed Ehsan Saffari; Vincent W V Jaddoe; Masahiro Miyake; Jost B Jonas; Maurice Yap; Alireza Mirshahi; Craig E Pennell; Maurizio Fossarello; Olavi Pärssinen; Annechien E G Haarman; Seyhan Yazar; Seang-Mei Saw; Caroline Hayward; J Willem L Tideman; Caroline C W Klaver; Shea Ping Yip; Nicholas G Martin; Paul J Foster; Consortium for Refractive Error and Myopia (CREAM); Liang Zhang; Ozren Polasek; Cornelia M van Duijn; Ching-Yu Cheng; Pirro G Hysi; Nicholas Y Q Tan; Christopher J Hammond; Virginie J M Verhoeven; Norbert Pfeiffer; René Höhn; JanRoelof Polling; Ya Xing Wang; Clair A Enthoven; Stuart MacGregor; Srujana Sahebjada; Johanna Mazur; Alex W Hewitt; Paul Mitchell; Qiao Fan; Anthony P Khawaja; Peng Chen; Jeremy A Guggenheim; Paul N Baird; David A Mackey; Xiaobo Guo

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Cathy Williams
Juho Wedenoja
E-Shyong Tai
Carla Lanca
UK Biobank Eye and Vision Consortium
Tien-Yin Wong
Alfred Pozarickij
Mingguang He
Hosoda Yoshikatsu
Terri L Young
Jing Xie
Milly S Tedja
Akitaka Tsujikawa
Veronique Vitart
Ginevra Biino
Jie Jing Wang
Seyed Ehsan Saffari
Vincent W V Jaddoe
Masahiro Miyake
Jost B Jonas
Maurice Yap
Alireza Mirshahi
Craig E Pennell
Maurizio Fossarello
Olavi Pärssinen
Annechien E G Haarman
Seyhan Yazar
Seang-Mei Saw
Caroline Hayward
J Willem L Tideman
Caroline C W Klaver
Shea Ping Yip
Nicholas G Martin
Paul J Foster
Consortium for Refractive Error and Myopia (CREAM)
Liang Zhang
Ozren Polasek
Cornelia M van Duijn
Ching-Yu Cheng
Pirro G Hysi
Nicholas Y Q Tan
Christopher J Hammond
Virginie J M Verhoeven
Norbert Pfeiffer
René Höhn
JanRoelof Polling
Ya Xing Wang
Clair A Enthoven
Stuart MacGregor
Srujana Sahebjada
Johanna Mazur
Alex W Hewitt
Paul Mitchell
Qiao Fan
Anthony P Khawaja
Peng Chen
Jeremy A Guggenheim
Paul N Baird
David A Mackey
Xiaobo Guo
Katso/Avaa
Publishers's PDF (2.251Mb)
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Springer Nature
doi:10.1038/s42003-020-0802-y
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021042821507
Tiivistelmä

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.

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