Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

被引：39

作者：

Fan, Qiao ^{[1
]}

Zhou, Xin ^{[1
]}

Khor, Chiea-Chuen ^{[2
,3
,4
,5
]}

Cheng, Ching-Yu ^{[1
,3
,6
]}

Goh, Liang-Kee ^{[1
,7
,8
]}

Sim, Xueling ^{[4
]}

Tay, Wan-Ting ^{[3
]}

Li, Yi-Ju ^{[9
,10
]}

Ong, Rick Twee-Hee ^{[1
,11
]}

Suo, Chen ^{[4
]}

Cornes, Belinda ^{[3
]}

Ikram, Mohammad Kamran ^{[1
,3
,7
,12
]}

Chia, Kee-Seng ^{[1
,4
,11
]}

Seielstad, Mark ^{[13
,14
]}

Liu, Jianjun ^{[2
]}

Vithana, Eranga ^{[3
,6
]}

Young, Terri L. ^{[9
]}

Tai, E-Shyong ^{[1
,15
]}

Wong, Tien-Yin ^{[1
,3
,6
,16
]}

Aung, Tin ^{[3
,6
]}

Teo, Yik-Ying ^{[1
,2
,3
,11
,17
]}

Saw, Seang-Mei ^{[1
,3
,6
,11
]}

机构：

[1] Natl Univ Singapore, Sch Publ Hlth, Singapore 117548, Singapore

[2] Agcy Sci Technol & Res, Genome Inst Singapore, Singapore, Singapore

[3] Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore

[4] Natl Univ Singapore, Ctr Mol Epidemiol, Singapore 117548, Singapore

[5] Natl Univ Singapore, Dept Pediat, Singapore 117548, Singapore

[6] Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore

[7] Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore

[8] Natl Canc Ctr Singapore, Dept Med Oncol, Singapore, Singapore

[9] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC USA

[10] Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Durham, NC USA

[11] Natl Univ Singapore, NUS Grad Sch Integrat Sci & Engn, Singapore 117548, Singapore

[12] Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands

[13] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94143 USA

[14] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

[15] Natl Univ Singapore, Dept Med, Singapore 117548, Singapore

[16] Univ Melbourne, Ctr Eye Res Australia, Melbourne, Vic, Australia

[17] Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 117548, Singapore

来源：

PLOS GENETICS | 2011年 / 7卷 / 12期

基金：

新加坡国家研究基金会; 英国医学研究理事会;

关键词：

REFRACTIVE ERROR; GROWTH-FACTOR; RISK-FACTORS; CARDIOVASCULAR RISK; NORMAL POPULATION; EYE DISEASES; AXIAL LENGTH; MYOPIA; PREVALENCE; SINGAPORE;

D O I：

10.1371/journal.pgen.1002402

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P-meta = 7.87 x 10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations.

引用

页数：10

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