June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Investigation of common genetic variants implicated in rhegmatogenous retinal detachment.
Author Affiliations & Notes
  • Alex W Hewitt
    Department of Ophthalmology, Centre for Eye Research Australia, Sandy Bay, TAS, Australia
  • Timothy Johnston
    Department of Ophthalmology, Centre for Eye Research Australia, Sandy Bay, TAS, Australia
  • Penelope Jayne Allen
    Department of Ophthalmology, Centre for Eye Research Australia, Sandy Bay, TAS, Australia
  • Jamie E Craig
    Department of Ophthalmology, Flinders University of South Australia, Melbourne, VIC, Australia
  • David A Mackey
    Lions Eye Institute, Perth, WA, Australia
  • Jie Jin Wang
    Centre for Vision Research, Westmead Millennium Institute, Sydney, NSW, Australia
  • Paul Mitchell
    Centre for Vision Research, Westmead Millennium Institute, Sydney, NSW, Australia
  • Aman Chandra
    Department of Ophthalmology, Centre for Eye Research Australia, Sandy Bay, TAS, Australia
  • Footnotes
    Commercial Relationships Alex Hewitt, None; Timothy Johnston, None; Penelope Allen, None; Jamie Craig, None; David Mackey, None; Jie Jin Wang, None; Paul Mitchell, None; Aman Chandra, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 1256. doi:
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      Alex W Hewitt, Timothy Johnston, Penelope Jayne Allen, Jamie E Craig, David A Mackey, Jie Jin Wang, Paul Mitchell, Aman Chandra; Investigation of common genetic variants implicated in rhegmatogenous retinal detachment.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1256.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: The development of rhegmatogenous retinal detachment (RRD) has an important heritable component. Genome-wide association analysis has recently implicated several loci (CERS2, SS18, TIAM1, TSTA3 and LDB2) in the pathogenesis of RRD. The aim of this study was to investigate these findings using an independent, Australian cohort.

Methods: Patients diagnosed with idiopathic, non-syndromic RRD were recruited from local Ophthalmic clinics. Case subjects were excluded if they had proliferative retinopathy, ocular surgery or ocular trauma prior to a diagnosis of RRD. Control participants were recruited through the Blue Mountains Eye Study (BMES), a population-based cohort study of older Australians aged 49 or older living in two postcode areas in western Sydney. This is an ethnically homogenous population of Anglo-Celtic descendants. Control subjects of this study were drawn from participants attending the second cross-sectional survey of the BMES conducted between 1997 and 2001. All control subjects had no previous history of RRD or retinal tear. Following informed consent, peripheral blood was collected and DNA extracted. Previously implicated single nucleotide polymorphisms (SNPs) (rs267738, rs2045084, rs12960119, rs955943, rs8132771, rs913444, rs1074463) were genotyped in case subjects using Sequenom iPLEX chemistry. Control data were generated using the Illumina Human 670-Quadv1 genotyping array at the Wellcome Trust Centre for Human Genetics, Sanger Institute, Cambridge.

Results: A total of 336 cases and 2531 controls were included in this study. All SNPs passed standard genotyping quality control and were found to be in Hardy-Weinberg equilibrium. Following correction for multiple testing, no single SNP was found to be significantly associated with RRD; however, gene dosage analysis showed more cases carried at least four high-risk alleles at previously implicated loci compared to controls (p=0.0003).

Conclusions: This study confirmed the small individual effect size of common variants at loci previously implicated in RRD. Nonetheless, it is clear that these variants do confer risk for the development of RRD. Further work, namely with a larger sample size, is required to further elucidate of the role of the CERS2, SS18, TSTA3, TIAM1 and LDB2 loci in the pathogenesis of RRD.

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