Poster Presentation 9th GeneMappers Conference 2012

A genome wide association scan for corneal curvature in Australians shows role of variants near PDGFRA (#125)

Aniket Mishra 1 , Seyhan Yazar 2 , Alex Hewitt 2 3 , Jenny Mountain 4 , Wei Ang 4 5 , Craig Pennell 4 , Nick Martin 6 , Grant Mongomery 6 , Stuart Macgregor 6 , David Mackey 2 3
  1. Queensland Institute of Medical Research, Brisbane, Queensland, Australia
  2. Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia
  3. Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
  4. School of Women’s and Infants’ Health, University of Western Australia, Perth, Western Australia, Australia
  5. Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
  6. Queensland Institute of Medical Research, Brisbane, Queensland, Australia

PURPOSE. To identify genes underlying corneal curvature (CC) and to test whether variants in PDGFRA and FRAP1 that are associated in Asians also determine CC in Australians of north European ancestry. 

METHODS. Two population-based cohorts of 1788 Australian twins and their families, as well as 1013 individuals from a birth cohort from Western Australia were genotyped using genome-wide arrays. Following individual analysis and QC, the results from each cohort were meta-analysed.

RESULTS. Meta-analysis revealed significant replication of association with rs2114039 and corneal curvature (P = 0.005). rs2114039, near PDGFRA, is the same SNP previously implicated in Asians. No SNP at the FRAP1 locus was found to be associated in our Australian samples. No SNP crossed the genome wide significance threshold of 5×10-8. The SNP with strongest association was rs2444240 has (p=3.658 × 10-07), which is 31kb away from the TRIM29 gene.

CONCLUSIONS. This study confirmeda significant role of the PDGFRA gene in determining corneal curvature in the Australian population. It also highlights the putative association of the TRIM29 locus with corneal curvature.