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PREVALENCE OF THE COMPLEMENT FACTOR H AND GSTM1 GENES POLYMORPHISMS IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY

Moschos, Marilita M. MD, PhD; Gazouli, Maria PhD; Gatzioufas, Zisis MD, PhD; Brouzas, Dimitrios MD, PhD; Nomikarios, Nikolaos MD; Sivaprasad, Sobha FRCOphth; Mitropoulos, Panagiotis MD; Chatziralli, Irini P. MD, PhD

doi: 10.1097/IAE.0000000000000693
Original Study

Purpose: The purpose of our study was to investigate the potential association between the complement factor H (CFH) (rs3753394, rs800292, rs2284664, rs1329428, and rs1065489) and GSTM1 gene polymorphisms, and central serous chorioretinopathy (CSCR) susceptibility in a well-defined Greek cohort.

Methods: We enrolled a case–control study in a Greek population with 41 cases and 78 controls. Five milliliters of peripheral blood was collected from each participant, and DNA was extracted using the PureLink Genomic DNA kit. The CFH (rs3753394, rs800292, rs2284664, rs1329428, and rs1065489) single nucleotide polymorphisms and GSTM1 polymorphism were tested using polymerase chain reaction assays.

Results: Between CSCR (n = 41) cases and controls (n = 78), the TT rs3753394, GG rs1329428, and TT rs1065489 genotypes' frequencies of the CFH gene were found to be significantly associated with risk of CSCR. The genotype frequency of the CFH rs2284664, rs800292, and of the GSTM1 gene polymorphisms was not found to be significantly associated with CSCR.

Conclusion: Our results demonstrated a significant association between CSCR and single nucleotide polymorphisms in the CFH gene (rs3753394, rs1329428, and rs1065489), suggesting that disturbances in choroidal vasculature, through intercorrelation with adrenomedullin, play a significant role in CSCR pathogenesis.

This study shed light to gene polymorphisms related with central serous retinopathy in a Greek population and showed that a significant association between central serous retinopathy and the CFH gene exists, suggesting that disturbances in choroidal vasculature, through intercorrelation with adrenomedullin, play a significant role in central serous retinopathy pathogenesis.

*First Department of Ophthalmology, University of Athens, Athens, Greece;

Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, University of Athens, Athens, Greece;

Department of Ophthalmology, University Hospital of Geneva, Geneva, Switzerland;

§Laser and Retinal Research Unit, King's College Hospital, London, United Kingdom; and

Second Department of Ophthalmology, Ophthalmiatrion Athinon, Athens, Greece.

Reprint requests: Marilita M. Moschos, MD, PhD, First Department of Ophthalmology, University of Athens, 6 Ikarias Street, Ekali, 14578 Athens, Greece; e-mail: moschosmarilita@yahoo.fr

S. Sivaprasad has received travel grants, research grants, and participated in advisory board meetings of Novartis, Bayer, Allergan, and Roche. None of the other authors have any financial/conflicting interests to disclose.

© 2016 by Ophthalmic Communications Society, Inc.