Genetic variants associated with primary open angle glaucoma in Indian population

• Published in: Genomics (San Diego, Calif.) Calif.), 2017-01, Vol.109 (1), p.27-35
• Main Authors: Kumar, Sunil, Malik, Manzoor Ahmad, K., Sooraj, Sihota, Ramanjit, Kaur, Jasbir
• Format: Article
• Language: English
• Subjects: CYP1B1; Cytochrome P-450 CYP1B1 - genetics; Cytoskeletal Proteins - genetics; European Continental Ancestry Group - genetics; Eye Proteins - genetics; Female; Glaucoma; Glaucoma, Open-Angle - genetics; Glaucoma, Open-Angle - metabolism; Glycoproteins - genetics; Humans; India; Male; Mutation; MYOC; Nerve Growth Factors - genetics; NTF4; OPTN; Transcription Factor TFIIIA - genetics; WDR36
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/j.ygeno.2016.11.003

Glaucoma is a very common disorder of the eye wherein the disturbance of the structural or functional integrity of the optic nerve causes characteristic atrophic changes in the optic nerve, which may lead to specific visual field defects over time. Primary open angle glaucoma (POAG) is most frequent among the three principle glaucoma subtypes. With well-established role of genes like Myocilin (MYOC), Optineurin (OPTN) and WD repeat Domain 36, (WDR36), at least 29 genetic loci have been found till date to be linked to POAG. Moreover, association studies have found 66 loci with 76 genes associated to POAG till date with conflicting results. This particular study is to summarize the current knowledge regarding the change in glaucoma prevalence worldwide and in India from 1993 onwards and compiles all the studied genes that are involved in POAG pathogenesis in Indian population. •Worldwide glaucoma prevalence is increasing with aging population (≥40yrs).•Quest for new specific variants in POAG pathogenesis is still on.•Studies on Indian population require much more focus (owing to high population).