title: Genetic association of the catalase gene (CAT) with vitiligo susceptibility.
abstract: Vitiligo susceptibility is a complex genetic trait that may involve genes important for melanin biosynthesis, response to oxidative stress, and/or regulation of autoimmunity, as well as environmental factors. We report here case-control and family-based association studies for the catalase gene (CAT) in vitiligo patients. The CAT gene was selected as a candidate gene because of the reduction of catalase enzyme activity (EC 1.11.1.6) and concomitant accumulation of excess hydrogen peroxide observed in the entire epidermis of vitiligo patients. One of three CAT genetic markers studied was found to be informative for genotypic analysis of Caucasian vitiligo patients and control subjects. Both case/control and family-based genetic association studies of the T/C single nucleotide polymorphism (SNP) in exon 9 of the CAT gene, which is detectable with the restriction endonuclease BstX I, suggest possible association between the CAT gene and vitiligo susceptibility. The observations that T/C heterozygotes are more frequent among vitiligo patients than controls and that the C allele is transmitted more frequently to patients than controls suggest that linked mutations in or near the CAT gene might contribute to a quantitative deficiency of catalase activity in the epidermis and the accumulation of excess hydrogen peroxide (H2O2). The CAT gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.
authors.affiliation: Department of Pathology, Immunology and Laboratory Medicine, Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville 32610-0275 USA.
authors.forename: Courtney B
authors.initials: CB
authors.lastname: Casp
authors.forename: Jin-Xiong
authors.initials: JX
authors.lastname: She
authors.forename: Wayne T
authors.initials: WT
authors.lastname: McCormack
mesh_terms: D015415:Biomarkers; D016022:Case-Control Studies; D002374:Catalase / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D011110:Polymorphism, Genetic; D014820:Vitiligo / Q000201:enzymology* / Q000235:genetics
chemical_list: D015415:Biomarkers; D002374:Catalase; C047564:CCANNNNNNTGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific