Studies on Glucoma Genes: Molecular Defects in Primary Open Angel Glucoma Patients and Single Nuclotide Polymorphism in Indian Population.

Abstract

Glaucoma, the second leading cause of blindness, is a heterogeneous group of optic neuropathies having complex genetic bases. Primary Open Angle glaucoma (POAG) is the most prevalent among glaucoma subtypes. Among the 14 reported loci implicated for the disease, only three underlying candidate genes have been characterized till date viz. Myocilin (MYOC), Optineurin (OPTN) and WDR36. Among them MYOC has been reported to be responsible for 2-4% of the adult onset cases of the disease whereas there has been relatively less evidence for any major involvement of OPTN and WDR36 with the disease till date. While digenic cases involving mutations in MYOC and CYP1B1 have been associated with the disease, SNPs in genes like APOE and p53 have also been reported to contribute to the apparent complexity of the disease. Hence analysis of the role of other genetic variation like intragenic SNPs as potential predisposing factors for the disease would be a natural strategy to decipher the complex genetic etiology of POAG