<i>PPAR-&#947;</i> and <i>CYP46A1</i> genes polymorphism is associated with Primary Open Angle Glaucoma (POAG) in hypertensive North Indians

Abstract

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-γ (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-γ 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-γ gene polymorphism, only GG genotype was nearly associated with POAG in only hypertensive cases.