title: Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India.
authors.forename: Roopam
authors.initials: R
authors.lastname: Duvesh
authors.forename: Anshuman
authors.initials: A
authors.lastname: Verma
authors.forename: Rengaraj
authors.initials: R
authors.lastname: Venkatesh
authors.forename: Srinivasan
authors.initials: S
authors.lastname: Kavitha
authors.forename: Pradeep Y
authors.initials: PY
authors.lastname: Ramulu
authors.forename: Robert
authors.initials: R
authors.lastname: Wojciechowski
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012307:Risk Factors; D044465:White People / Q000235:genetics* / Q000706:statistics & numerical data*
chemical_list: C574182:COL11A1 protein, human; D002352:Carrier Proteins; D024161:Collagen Type XI; C533786:PLEKHA7 protein, human; D012097:Repressor Proteins; C497230:ST18 protein, human; C584062:PCMTD1 protein, human; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase
keywords: PACG; PCMTD1-ST18; South India