PPAR-c and CYP 46 A1 genes polymorphism is associated with primary open angle glaucoma (poag)‎ in hypertensive north Indians

Abstract EN

Background: Involvement of genetic factors like gene polymorphisms was found to contribute significantly to development and progression of Primary Open Angle Glaucoma (POAG) in the last few decades.

Aim of study: The present study was carried out to investigate association of PPAR-c (rs10865710) and CYP46A1 (rs754203) gene polymorphism with development of POAG in hypertensive North Indians.

Patients and methods: Study included 328 individuals, 226 as POAG cases and 102 controls.

PPAR-c and CYP46A1 gene polymorphism was evaluated by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP).

The genotypic and allelic frequency distribution in patients and controls was analyzed by SPSS (version 12.0).

Results: In CYP46A1 gene polymorphism, TT genotype and T allele were found to be associated with a significantly decreased risk of POAG whereas the CT, CC genotypes and C allele were associated with an increased risk of POAG in both hypertensive and normotensive individuals.

In PPAR-c gene polymorphism, only GG genotype was nearly associated with POAG in only hypertensive cases.

Abbreviations: POAG, Primary Open Angle Glaucoma; IOP, intraocular pressure; PPAR-c, peroxisome proliferator-activated receptor gamma; CYP46A1, cholesterol-24S-hydroxylase; SNP, single nucleotide polymorphism; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; GHT, glaucoma hemifield test; DBP, diastolic blood pressure; SBP, systolic blood pressure