title: Association of angiotensin-converting enzyme,CYP46A1genes polymorphism with senile cataract.
abstract: BACKGROUND
  Senile cataract is the most common type of cataract characterized by gradual progressive thickening of the lens of the eye. Previously, many studies investigated the association between genetic polymorphism and senile cataract. Angiotensin-converting enzyme (ACE) I/D polymorphism is the potential risk factor for many eye-related diseases such as retinopathy and glaucoma.CYP46A1enzyme converts cholesterol to 24S-hydroxycholesterol; human lens' membranes contain the highest cholesterol content. Defects in enzymes of cholesterol metabolism can be associated with cataracts. Hence, the present study was carried out to investigate the association ofACEandCYP46A1genes polymorphism with senile cataract cases and controls.
  
  
  METHODS
  ACE(rs 4646994) andCYP46A1(rs 754203) genes polymorphism in cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism.
  
  
  RESULTS
  This study included 103 senile cataract cases (55 were males and 48 were females) and 102 controls (53 were males and 49 were females). Mean age of cases in this study was 52.02 ± 12.11 years while in control group 53.74 ± 11.87 years. Frequencies ofACEID, DD, and II genotypes in senile cataract cases were 64.07%, 4.85%, and 31.06% and controls were 61.76%, 26.47%, and 11.76%, respectively. TheCYP46A1gene CT, CC, and TT genotype frequencies were 48.54%, 8.73%, and 42.71% in senile cataract cases and 28.43%, 3.92%, and 67.64% in healthy controls, respectively.ACEDD and II genotypes (P< 0.001,P = 0.0008) andCYP46A1CT and TT genotypes (P= 0.003,P = 0.0003) were significantly associated with senile cataract cases compared to the controls.
  
  
  CONCLUSIONS
  Findings of this study suggest thatACEandCYP46A1genes polymorphism may be a predictive marker for early identification of population at risk of senile cataract. This potential role ofACEandCYP46A1genes polymorphism as a marker of susceptibility to senile cataract needs further validation in studies involving larger number of patients from different regions.
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 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: Anu
authors.initials: A
authors.lastname: Chandra
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
keywords: Angiotensin-converting enzyme; CYP46A1; genetic polymorphism; renin-angiotensin system; senile cataract