title: Polymorphism of CYP46A1 and PPARγ2 Genes in Risk Prediction of Primary Open Angle Glaucoma Among North Indian Population.
abstract: OBJECTIVE
  Glaucoma is the leading cause of irreversible blindness and the second most common cause of all blindness after cataracts. This study investigates the association of polymorphism in the CYP46A1 and PPARγ2 genes and primary open angle glaucoma (POAG).
  
  
  METHODS
  This study evaluated 122 POAG cases (POAG group) and 112 cases of nonglaucomatous patients (control group). Polymorphisms of the CYP46A1 gene and PPARγ2 gene were evaluated with the polymerase chain reaction-restriction fragment length polymorphism method in both groups.
  
  
  RESULTS
  The mean ages were 49.88 ± 12.34 years and 53.74 ± 11.87 years for the POAG group and control group, respectively. The CYP46A1 gene CC, CT, TT genotype frequencies were 13.93%, 58.2%, 27.87% in the POAG group and 19.6%, 40.19%, 40.19% in the control group, respectively. The PPARγ2 gene CC, CG, GG genotype frequencies were 16.83%, 54.45%, 28.71% in cases and 3.92%, 28.43%, 67.64% in the control group, respectively. Statistically, significant differences in the frequencies of CYP46A1 CC, CT, TT and PPARγ2 CC, CG, GG (P < 0.05) genotype were found between groups (P < 0.05, all comparisons).
  
  
  CONCLUSIONS
  Findings of this study suggest that CYP46A1 gene and PPARγ2 gene polymorphisms can be a predictive marker for early identification of population at risk of POAG, although a larger sample size is required to determine the role of these polymorphisms in the pathogenesis and course of POAG.
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Anu
authors.initials: A
authors.lastname: Chandra
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Shania
authors.initials: S
authors.lastname: Abbas
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Syed Tasleem
authors.initials: ST
authors.lastname: Raza
authors.affiliation: Department of Opthalmology, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Luxmi
authors.initials: L
authors.lastname: Singh
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Saliha
authors.initials: S
authors.lastname: Rizvi
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.
authors.forename: Farzana
authors.initials: F
authors.lastname: Mahdi
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D000072556:Cholesterol 24-Hydroxylase / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D047495:PPAR gamma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018570:Risk Assessment
chemical_list: D005819:Genetic Markers; D047495:PPAR gamma; D000072556:Cholesterol 24-Hydroxylase
keywords: CYP46A1 and PPARγ2; Genetic Polymorphism; Primary Open Angle Glaucoma