title: N-acetyltransferase 2 phenotype may be associated with susceptibility to age-related cataract.
abstract: Free radicals and oxidative damage play roles in aging and age-related ocular diseases such as cataracts, so defensive mechanisms become important factors for protection. Because N-acetylation is involved in a wide variety of detoxification processes, this study was conducted to examine the relationship between the acetylator phenotypes and genotypes in a group of patients with age-related cataract. Sixty-one cases of age-related cataract and 104 controls were included in this study. Blood was collected in EDTA-containing tubes, and genomic DNA was extracted from the white blood cells by high pure PCR template preparation kit. Genotyping of NAT2 polymorphisms were detected by using a LightCycler-NAT2 mutation detection kit in real-time PCR. There was a significant difference in the distribution of the NAT2*6A acetylator phenotype between cases and the controls. The odds ratio of cataract for the NAT2*6A slow phenotype was 3.8 (95% CI = 1.08 to 13.11, p = 0.032) compared with the fast type. Our results suggest that slow acetylators are at higher risk of developing age-related cataracts than fast acetylators. As NAT2 is an important xenobiotic-metabolizing enzyme and theoretically xenobiotics such as ultraviolet B radiation, smoking, and alcohol use may induce cataract formation, NAT2 gene polymorphisms may be associated with genetic susceptibility of cataract.
authors.affiliation: Department of Biochemistry, Mersin University, Medical Faculty, Mersin, Turkey. lutamer@yahoo.com
authors.forename: Lülüfer
authors.initials: L
authors.lastname: Tamer
authors.forename: Ayça
authors.initials: A
authors.lastname: Yilmaz
authors.forename: Hatice
authors.initials: H
authors.lastname: Yildirim
authors.forename: Lokman
authors.initials: L
authors.lastname: Ayaz
authors.forename: Nurcan Aras
authors.initials: NA
authors.lastname: Ates
authors.forename: Sevim
authors.initials: S
authors.lastname: Karakas
authors.forename: Ozay
authors.initials: O
authors.lastname: Oz
authors.forename: Ozlem
authors.initials: O
authors.lastname: Yildirim
authors.forename: Ugur
authors.initials: U
authors.lastname: Atik
mesh_terms: D000107:Acetylation; D000368:Aged; D000375:Aging; D001191:Arylamine N-Acetyltransferase / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002386:Cataract / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human