ATF6 polymorphisms and protective effect in diabetic retinopathy

Activating transcription factor 6 (ATF6) has been observed to be a strong contributor in pathology of diabetes via its angiogenesis and apoptosis role, therefore in the present study we investigated the role of ATF6 polymorphisms (rs1058405; rs11579627; rs13401) in diabetic retinopathy (DR) susceptibility in Pakistani type 2 diabetes mellitus (T2DM) persons. ATF6 polymorphisms were genotyped on a panel of 553 individuals through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. ATF6 polymorphisms were found not to be associated with DR susceptibility. However haplotype AAA was found to be associated with NPDR, and T2DM. Haplotype GGG of three SNPs was found to have a protective role against NPDR and individuals having AGG were at a lower risk of developing T2DM. This is the first report of ATF6 SNPs screening for DR in any population, where ATF6 polymorphisms found not to have a role in the development of DR and its subtypes instead may have a protective role in specified combination of haplotypes in NPDR and T2DM in the Pakistani patients.