title: Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort.
abstract: OBJECTIVE
  Glaucoma comprises a heterogeneous group of optic neuropathies with a complex genetic basis. It is the second leading cause of irreversible blindness in the world. This study investigates the association of SNPs on chromosome 2p with primary open angle glaucoma (POAG) in a Southern Indian population.
  
  
  METHODS
  Case-control analysis was performed using 220 unrelated POAG cases and 220 age-matched unaffected controls recruited through the Aravind Eye Hospital and its outlying clinics. Five SNPs (rs1533428, rs12994401, rs10202118, rs11125375, and rs11889995) on chromosome 2p were evaluated in these two groups and genotyped using Taq Man SNP genotyping assay. Statistical analysis was performed using the SVS program package by Golden Helix to identify the distributions of allele and genotype frequencies, Fisher exact test P values, and odds ratios and to check Hardy-Weinberg equilibrium.
  
  
  RESULTS
  Among the five SNPs screened, SNP rs10202118, showed a P = 0.026 for the basic allelic test, P = 0.004 for the genotypic test, and P = 0.0014 for the recessive model. The second suggestive marker was rs11125375, which also showed P = 0.033 for the recessive model. The associated SNPs formed a common disease haplotype. The remaining three SNPs showed insignificant association in this study population.
  
  
  CONCLUSIONS
  This was the first study to demonstrate the association of SNPs on chromosome 2p in patients with POAG in the Indian population. The two tagging SNPs (rs10202118 and rs11125375) on chromosome 2p are the most likely sites underlying the significant association with POAG in this study population.
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Madurai, India.
authors.forename: Suganthalakshmi
authors.initials: S
authors.lastname: Balasubbu
authors.forename: Subbaiah R
authors.initials: SR
authors.lastname: Krishnadas
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Jiao
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D004247:DNA