title: Genetic variants associated with primary open angle glaucoma in Indian population.
abstract: 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.
authors.affiliation: Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sunil
authors.initials: S
authors.lastname: Kumar
authors.affiliation: Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Manzoor Ahmad
authors.initials: MA
authors.lastname: Malik
authors.affiliation: Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sooraj
authors.initials: S
authors.lastname: K
authors.affiliation: Glaucoma Research Facility and Clinical Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Ramanjit
authors.initials: R
authors.lastname: Sihota
authors.affiliation: Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.. Electronic address: kaurjasbir@rediffmail.com.
authors.forename: Jasbir
authors.initials: J
authors.lastname: Kaur
mesh_terms: D018797:Cell Cycle Proteins; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics; D035582:Transcription Factor TFIIIA / Q000235:genetics; D044465:White People / Q000235:genetics; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D009414:Nerve Growth Factors; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human; C502341:WDR36 protein, human; C585496:CYP1B1 protein, human; C073922:neurotrophin 4
keywords: CYP1B1; Glaucoma; MYOC; NTF4; OPTN; WDR36