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-y [rs 0865710] 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-y and CYP46A1 gene polymorphism was evaluated by polymerase chain reaction-restriction 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-y gene polymorphism, only GG genotype was nearly associated with POAG in only hypertensive cases
Conclusions: CYP46A1 [rs754203] gene polymorphism was associated with POAG in both hypertensive and normotensive patients whereas, only GG genotype of PPAR-y [rs!0865710] SNP shows significant association with POAG in hypertensive POAG patients