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Catalase −262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary

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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.

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Acknowledgments

This study was supported by grants from OTKA [Hungarian Research Foundation K71902] and Zsigmond Diabetes Foundation [Hungarian Academy of Science, Department of Medicine]. The authors thank WN. Bigler (San Francisco State University, San Francisco, USA) and É. Gombos (Department of Clinical Biochemistry and Molecular Pathology, University of Debrecen, Debrecen, Hungary), K. Kocsordi (Department of Biomedical Laboratory and Imaging Science, University of Debrecen, Debrecen, Hungary) for their support.

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Authors and Affiliations

  1. Department of Medical Laboratory Analytics, Medical and Health Science Center, University of Debrecen, Debrecen, P. O. Box 55, 4012, Hungary

    Zsuzsanna Kósa, Zsolt Fejes, Teréz Nagy, Melinda Csordás & László Góth

  2. Department of Dermatology, Medical and Health Science Center, University of Debrecen, Debrecen, P. O. Box 55, 4012, Hungary

    Enikő Simics & Éva Remenyik

  3. Department of Biomedical Laboratory and Imaging Science, Faculty of Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, P. O. Box 55, 4012, Hungary

    László Góth

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  1. Zsuzsanna Kósa
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  2. Zsolt Fejes
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  7. László Góth
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Correspondence to László Góth.

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Zsuzsanna Kósa, Zsolt Fejes, Teréz Nagy, Melinda Csordás, Enikő Simics, Éva Remenyik, László Góth contributed equally to this study.

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Kósa, Z., Fejes, Z., Nagy, T. et al. Catalase −262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. Mol Biol Rep 39, 4787–4795 (2012). https://doi.org/10.1007/s11033-011-1272-6

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  • DOI: https://doi.org/10.1007/s11033-011-1272-6

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