title: Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.
abstract: OBJECTIVE
  The aim of this study was to explore the potential association of genetic variants across clusterin (CLU) and tumor necrosis factor-alpha (TNF-α) genes in South Indian individuals with pseudoexfoliation syndrome (PEXS) and pseudoexfoliation glaucoma (PEXG).
  
  
  METHODS
  A total of 523 individuals including 299 unrelated cases (150 PEXS and 149 PEXG) and 224 age- and ethnically-matched healthy controls were recruited for genetic analysis. Six single-nucleotide polymorphisms (SNPs) including, five CLU SNPs (rs11136000, rs2279590, rs9331888, rs9331931, rs3087554) and one promoter SNP (rs1800629) of TNF-α were genotyped in all study subjects. Genotyping of CLU SNPs were performed using the TaqMan allelic discrimination assay while TNF-α SNP was genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) analysis. Association analysis was performed by determining the distributions of genotype and allele frequencies, Hardy-Weinberg equilibrium, and chi-square p values and odds ratios as implemented in the Golden Helix SNP & Variation Suite (SVS).
  
  
  RESULTS
  Five CLU SNPs did not show any significant differences in allele frequencies between patients and control subjects (rs3087554, p = 0.919, OR = 1.01, 95% CI: 0.77-1.33; rs2279590, p = 0.432, OR = 1.12, 95% CI: 0.84-1.51; rs9331931, p = 0.310, OR = 1.24, 95% CI: 0.81-1.89; rs11136000, p = 0.072, OR = 1.31, 95% CI: 0.97-1.76; rs9331888, p = 0.911, OR = 1.01, 95% CI: 0.78-1.31). The investigation of TNF-α SNP established a significant association with PEXS and PEXG (p = 0.042, OR = 0.61, 95% CI: 0.38-0.99). However, this association did not remain significant after Bonferroni correction.
  
  
  CONCLUSIONS
  Our data suggest that genetic variants in CLU and TNF-α genes do not play a major role in the development of PEXS and PEXG in the South Indian population.
authors: a Department of Genetics , Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation , Madurai , Tamil Nadu , India .
authors: Sushil K
authors: SK
authors: Dubey
authors: b Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Rockville , MD , USA .
authors: James F
authors: JF
authors: Hejtmancik
authors: c Glaucoma Clinic, Aravind Eye Hospital , Madurai , Tamil Nadu , India and.
authors: Subbaiah R
authors: SR
authors: Krishnadas
authors: c Glaucoma Clinic, Aravind Eye Hospital , Madurai , Tamil Nadu , India and.
authors: Rajendrababu
authors: R
authors: Sharmila
authors: d Intraocular Lens and Cataract Clinic, Aravind Eye Hospital , Madurai , Tamil Nadu , India.
authors: Aravind
authors: A
authors: Haripriya
authors: a Department of Genetics , Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation , Madurai , Tamil Nadu , India .
authors: Periasamy
authors: P
authors: Sundaresan
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D051152:Clusterin / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D005901:Glaucoma / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D044465:White People / Q000208:ethnology
chemical_list: C495242:CLU protein, human; D051152:Clusterin; D014409:Tumor Necrosis Factor-alpha
keywords: CLU; SNP; TNF-α; pseudoexfoliation glaucoma; pseudoexfoliation syndrome