title: Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary.
abstract: Catalase is the main regulator of hydrogen peroxide metabolism. In vitiligo patients there are conflicting data on its activity and no data on the effect of -262C>T polymorphism in the catalase gene. Blood catalase activity, -262C>T polymorphism and acatalasemia mutations were examined in 75 vitiligo patients and in 162 controls, in Hungary. We measured blood catalase activity and conducted analyses with PCR-SSCP, polyacrylamide gel electrophoresis and silver staining in combination with RFLP and nucleotide sequencing. Comparison of the wild (CC) genotype and the mutant (TT) genotype in the vitiligo patients revealed a non significant (P > 0.19) increase in blood catalase. Male controls with the CT genotype had significantly (P < 0.04) lower blood catalase activity than CC genotype controls. Female vitiligo patients with CC genotype had lower (P < 0.04) blood catalase than female controls. The frequency of wild genotype (CC) and C alleles is significantly (P < 0.04) decreased in Hungarian controls when compared to controls in Slovenia, Morocco, UK, Greece, Turkey, USA, China. The detection of a novel acatalasemia mutation (37C>T in exon 9) and the 113G>A (exon 9) mutation in Hungary are further proofs of genetic heterogeneity origin of acatalasemia mutations. In conclusion, the -262 C>T polymorphism has a reverse effect on blood catalase in vitiligo patients and in controls. In controls the mutant genotypes and alleles are more frequent in Hungary than in several other populations. The new acatalasemia mutations are further examples of heterogeneity of acatalasemia.
authors.affiliation: Department of Medical Laboratory Analytics, Medical and Health Science Center, University of Debrecen, Debrecen, P. O. Box 55, 4012, Hungary.
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Kósa
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Fejes
authors.forename: Teréz
authors.initials: T
authors.lastname: Nagy
authors.forename: Melinda
authors.initials: M
authors.lastname: Csordás
authors.forename: Enikő
authors.initials: E
authors.lastname: Simics
authors.forename: Eva
authors.initials: E
authors.lastname: Remenyik
authors.forename: László
authors.initials: L
authors.lastname: Góth
mesh_terms: D020642:Acatalasia / Q000097:blood / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D016022:Case-Control Studies; D002374:Catalase / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016017:Odds Ratio; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics; D014820:Vitiligo / Q000097:blood / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D055815:Young Adult
chemical_list: D002374:Catalase