Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
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.
Duke Scholars
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Related Subject Headings
- Refractive Errors
- Receptor, Platelet-Derived Growth Factor alpha
- Polymorphism, Single Nucleotide
- Middle Aged
- Male
- Infant
- Humans
- Genotype
- Genome-Wide Association Study
- Genetic Predisposition to Disease
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Refractive Errors
- Receptor, Platelet-Derived Growth Factor alpha
- Polymorphism, Single Nucleotide
- Middle Aged
- Male
- Infant
- Humans
- Genotype
- Genome-Wide Association Study
- Genetic Predisposition to Disease