Genetic Association of the <i>Catalase</i> Gene (<i>CAT</i>) with Vitiligo Susceptibility

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<jats:p>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 <jats:italic>catalase</jats:italic> gene (<jats:italic>CAT</jats:italic>) in vitiligo patients. The <jats:italic>CAT</jats:italic> 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 <jats:italic>CAT</jats:italic> 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 <jats:italic>CAT</jats:italic> gene, which is detectable with the restriction endonuclease <jats:italic>Bst</jats:italic>X I, suggest possible association between the <jats:italic>CAT</jats:italic> 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 <jats:italic>CAT</jats:italic> gene might contribute to a quantitative deficiency of catalase activity in the epidermis and the accumulation of excess hydrogen peroxide (H<jats:sub>2</jats:sub>O<jats:sub>2</jats:sub>). The <jats:italic>CAT</jats:italic> gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.</jats:p>

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