title: MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population.
abstract: OBJECTIVE
  Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX.
  
  
  METHODS
  A case-control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC). All the study subjects were genotyped for three SNPs using the TaqMan allelic discrimination assay. Association and statistical analysis were performed with PLINK 1.07 and STATA 11.1.
  
  
  RESULTS
  Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). The intronic SNP rs8006686 showed nearly significant association (p = 0.069), and however did not remain significant after Bonferroni correction.
  
  
  CONCLUSIONS
  Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Anna Nagar 1, Madurai, Tamil Nadu, 625020, India.
authors.forename: Prakadeeswari
authors.initials: P
authors.lastname: Gopalakrishnan
authors.affiliation: Intraocular Lens and Cataract Clinic, Aravind Eye Hospital, Madurai, India.
authors.forename: Aravind
authors.initials: A
authors.lastname: Haripriya
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Anna Nagar 1, Madurai, Tamil Nadu, 625020, India. sundar@aravind.org.
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000619:Aminohydrolases; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D005574:Formate-Tetrahydrofolate Ligase; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens / Q000235:genetics*; D009097:Multienzyme Complexes; D020641:Polymorphism, Single Nucleotide
chemical_list: D015778:Minor Histocompatibility Antigens; D009097:Multienzyme Complexes; C021836:formyl-methenyl-methylenetetrahydrofolate synthetase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C539735:MTHFD1 protein, human; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP); D000619:Aminohydrolases; D005574:Formate-Tetrahydrofolate Ligase
keywords: Homocysteine; MTHFD1; MTHFR; PEX; Polymorphisms