Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran.

Ali Yousefian,Dorsa Morshedi Rad,Saeed Shokoohi-Rad,Saman Milanizadeh,Selma Zargari,Mohammad Reza Abbaszadegan,Ramin Daneshvar,Negar Morovatdar

doi:10.18502/jovr.v15i1.5942

Abstract

PurposeTo evaluate the association of five different polymorphisms from a genome-wide-associated study with susceptibility to glaucoma in the northeast Iranian population.MethodsHundred and thirty patients with primary angle closure glaucoma (PACG) and 130 healthy controls were genotyped for the polymorphic regions with the aid of tetra-amplification refractory mutation system-polymerase chain reaction. The association of these variants with the disease susceptibility was measured statistically with the logistic regression method.ResultsHundred and thirty patients with PACG (53 males, 77 females) with a mean age of 64.5 6.2 years and 130 healthy control subjects (51 males, 79 females) with a mean age of 64.0 5.7 years were selected for evaluation. There was a significant association between rs3816415 (P = 0.005), rs736893 (P 0.001), rs7494379 (P 0.001), and rs1258267 (P = 0.02) with PACG susceptibility. This association could not be shown for rs3739821.ConclusionIt was revealed that studied variants in GLIS3, EPDR1, FERMT2, and CHAT genes can contribute to the incidence of PACG. Additional studies in other populations are needed to evaluate DPM2-FAM102A.

Highlights

Glaucoma is one of the leading causes of blindness worldwide
Several genome-wide association studies (GWASs) for primary angle closure glaucoma (PACG) revealed multiple genetic variants correlated with disease susceptibility, these results demonstrate that the exact mechanisms by which the culprit gene could cause PACG is not completely understood and the association of different single nucleotide polymorphisms (SNPs) with glaucoma are still controversial.[12, 13]
The current study aimed to evaluate the association of these five SNPs evaluated in GWAS with PACG susceptibility in the northeast of Iran

Summary

Introduction

Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran. PACG Genetic Polymorphisms; Yousefian et al are affected and it is predicted that by 2020, this number will rise to around 79.6 million globally.[1] The incidence of glaucoma varies in different populations and geographic regions. While primary open-angle glaucoma (POAG) is the most common type, primary angle closure glaucoma (PACG) is associated with a more severe presentation and bilateral blindness.[2,3,4] The visual function in PACG could be saved if early and proper treatments are adopted.[5]

Methods

Results

Conclusion