NDLI: Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sundaresan, Periasamy Ramulu, Pradeep Y. Wojciechowski, Robert Verma, Anshuman Venkatesh, Rengaraj Duvesh, Roopam Kavitha, Srinivasan
Spatial Coverage	India
Description	Country affiliation: India Author Affiliation: Duvesh R ( Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India.)
Abstract	PURPOSE: Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). We explored the genetic association of these SNPs with subtypes of primary angle closure in a South Indian population. METHODS: The study included three case definitions: primary angle closure/primary angle closure glaucoma (PAC/PACG, N = 180); primary angle closure suspect (PACS, N = 171), and a combined any-angle closure group. Controls consisted of 411 individuals from South India. Genotyping for all three SNPs was performed using the TaqMan allelic discrimination assay. Genetic association was estimated using a χ(2) test statistics and logistic regression. RESULTS: Among the three studied SNPs, significant genetic association was identified for rs1015213 in the PAC/PACG (P = 0.002) and any-angle closure (P = 0.003) analyses. However, no significant genetic association was seen when in PACS subjects (P = 0.052). SNPs rs3753841 and rs11024102 showed no evidence of genetic association with angle-closure phenotypes (P > 0.05) in South Indian participants. CONCLUSIONS: In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with PAC/PACG, confirming prior reports of an association between this region and angle closure glaucoma. Further work with a larger sample size is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.13-12186
Journal	Investigative Opthalmology & Visual Science
Issue Number	8
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-08-19
Publisher Place	United States
Access Restriction	Open
Subject Keyword	European Continental Ancestry Group Genetics Statistics & Numerical Data Glaucoma, Angle-closure Ethnology Protein D-aspartate-l-isoaspartate Methyltransferase Repressor Proteins Carrier Proteins Collagen Type Xi Genetic Predisposition To Disease Genotype Epidemiology Logistic Models Polymorphism, Single Nucleotide Risk Factors Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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