Poster Presentation 9th GeneMappers Conference 2012

Genome-wide association scan for corneal astigmatism (#105)

Seyhan Yazar 1 , Aniket Mishra 2 , Alex W Hewitt 1 3 , Wei Ang 4 , Jenny Mountain 5 , Craig Pennell 4 , Nick Martin 2 , Grant Montgomery 2 , Stuart Macgreor 2 , David A Mackey 1
  1. University of Western Australia Centre for Ophthalmology and Visual Science,Lions Eye Institute, Perth, Australia
  2. Queensland Institute of Medical Research, Brisbane, Australia
  3. University of Melbourne Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
  4. School of Women’s and Infants’ Health, University of Western Australia, Perth, Australia
  5. Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia

Purpose: Corneal astigmatism is a common eye disorder that results from irregularities of the corneal curvature. This heritable trait causes reduced vision in affected individuals. In this study, we present the results from an investigation of the genetic markers susceptible to corneal astigmatism.

Methods: We included data from a total of 1013 individuals who were previously enrolled in the Western Australian Pregnancy (Raine) Cohort. As a part of the comprehensive eye examination at the 21-year follow-up, corneal curvature was measured with IOLMaster V.5 (Carl Zeiss Meditec AG, Jena, Germany). Individual genotype data were extracted from the genome-wide Illumina 660 Quad Array.

Results: No SNPs was found to be significantly associated with corneal astigmatism in this study array at the 5.0x10-8 genome-wide association significance level. The SNP with the strongest association was rs688405 (p= 7.5x10-7). This marker is located closest to the DPPA4 gene.

Conclusion: A meta-analysis of the genetic associations of corneal astigmatism is necessary to validate the findings of this study.