Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Journal Article (Journal Article)

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) = 7.87×10(-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.

Full Text

Duke Authors

Cited Authors

  • Fan, Q; Zhou, X; Khor, C-C; Cheng, C-Y; Goh, L-K; Sim, X; Tay, W-T; Li, Y-J; Ong, RT-H; Suo, C; Cornes, B; Ikram, MK; Chia, K-S; Seielstad, M; Liu, J; Vithana, E; Young, TL; Tai, E-S; Wong, T-Y; Aung, T; Teo, Y-Y; Saw, S-M

Published Date

  • December 2011

Published In

Volume / Issue

  • 7 / 12

Start / End Page

  • e1002402 -

PubMed ID

  • 22144915

Pubmed Central ID

  • PMC3228826

Electronic International Standard Serial Number (EISSN)

  • 1553-7404

Digital Object Identifier (DOI)

  • 10.1371/journal.pgen.1002402


  • eng

Conference Location

  • United States