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Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study

journal contribution
posted on 2023-05-18, 03:55 authored by Yazar, S, Mishra, A, Ang, W, Kearns, LS, Mountain, JA, Pennell, C, Montgomery, GW, Young, TL, Hammond, CJ, Macgregor, S, David MackeyDavid Mackey, Alexander HewittAlexander Hewitt
PURPOSE: Corneal astigmatism is a common eye disorder characterized by irregularities in corneal curvature. Recently, the rs7677751 single nucleotide polymorphism (SNP) at the platelet-derived growth factor receptor alpha (PDGFRA) locus was found to be associated with corneal astigmatism in people of Asian ancestry. In the present study, we sought to replicate this finding and identify other genetic markers of corneal astigmatism in an Australian population of Northern European ancestry.

METHODS: Data from two cohorts were included in this study. The first cohort consisted of 1,013 individuals who were part of the Western Australian Pregnancy Cohort (Raine) Study: 20-year follow-up Eye Study. The second cohort comprised 1,788 individuals of 857 twin families who were recruited through the Twins Eye Study in Tasmania and the Brisbane Adolescent Twin Study. Corneal astigmatism was calculated as the absolute difference between the keratometry readings in two meridians, and genotype data were extracted from genome-wide arrays. Initially, each cohort was analyzed separately, before being combined for meta- and subsequent genome-wide pathway analysis.

RESULTS: Following meta-analysis, SNP rs7677751 at the PDGFRA locus had a combined p=0.32. No variant was found to be statistically significantly associated with corneal astigmatism at the genome-wide level (p<5.0×10(-8)). The SNP with strongest association was rs1164064 (p=1.86×10(-6)) on chromosome 3q13. Gene-based pathway analysis identified a significant association between the Gene Ontology "segmentation" (GO:0035282) pathway, corrected p=0.009.

CONCLUSIONS: Our data suggest that the PDGFRA locus does not transfer a major risk of corneal astigmatism in people of Northern European ancestry. Better-powered studies are required to validate the novel putative findings of our study.

History

Publication title

Molecular Vision

Volume

19

Pagination

1238-1246

ISSN

1090-0535

Department/School

Tasmanian School of Medicine

Publisher

Molecular Vision

Place of publication

C/O Jeff Boatright, Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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