MOLECULAR GENETIC ANALYSIS OF INTRAOCULAR PRESSURE RELATED GLAUCOMAS IN INDIAN POPULATION

Abstract

The glaucomas comprise a group of progressive heterogeneous optic neuropathies that newlineaffects 70 million people worldwide. It is characterized by damages in the optic nerve newlinehead and corresponding visual field defects leading to irreversible blindness. It is newlineestimated that in India glaucoma affects 12 million people and accounts for 12.8% of newlinethe blindness in the country. Primary open angle glaucoma (POAG) is the most newlinecommon form of glaucoma with multiple molecular mechanisms underlying its newlinepathogenesis. Being a complex disease, several chromosomal loci have been linked to newlinePOAG on different chromosomes, of which 17 have been named, from GLC1A to newlineGLC1Q. But, only five loci namely, GLC1A (1q24.3-25.2), GLC1E (10p15-14), newlineGLC1G (5q22.1), GLC1O (19q13.3) and GLC1F (7q35-36) have been characterized to newlineharbor mutations in myocilin (MYOC), optineurin (OPTN), WD repeat domain 36 newline(WDR36), neurotrophic factor 4 (NTF4) and ankyrin repeat and SOCS box containing newline10 (ASB10), respectively. Genome wide association studies (GWAS) have identified newlineseveral variants to be associated with POAG in certain populations. These studies have newlinerevealed a large number of polymorphisms located in LOXL1, CDKN2BAS1 and newlineTMCO1 and those flanking ZP4, PLXDC2, DKFZp762A217, CAV1 and CAV2 to be newlineassociated with POAG. newlineAnother line of studies have been initiated to identify genetic determinants for newlineocular quantitative traits, intraocular pressure (IOP), optic nerve parameters and central newlinecorneal thickness (CCT) through GWAS.