Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo

Biochemical and Biophysical Research Communications

Volumn 345, Issue 4, 2006, Pages 1586-1591

  Gavalas, Nikos G ^a   Akhtar, Samia ^a   Gawkrodger, David J ^b   Watson, Philip F ^a   Weetman, Anthony P ^a   Kemp, E Helen ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

Author keywords

Catalase; Gene polymorphism; Pigment cell; Vitiligo

Indexed keywords

CATALASE; HYDROGEN PEROXIDE;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DEPIGMENTATION; DNA SEQUENCE; ENZYME ACTIVITY; EPIDERMIS; ETHNOLOGY; FEMALE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; VITILIGO;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CASE-CONTROL STUDIES; CATALASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS); VITILIGO;

EID: 33744544131     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.05.063     Document Type: Article

References (28)

1. LePoole I.C., Das P.K., van den Wijngaard R.M.G.J., Bos J.D., and Westerhof W. Review of the etiopathomechanism of vitiligo: a convergence theory. Exp. Dermatol. 2 (1993) 145-153
2. Majumder P.P., Nordlund J.J., and Nath S.K. Pattern of familial aggregation of vitiligo. Arch. Dermatol. 129 (1993) 994-998
3. Nath S.K., Majumder P.P., and Nordlund J.J. Genetic epidemiology of vitiligo: multilocus recessivity cross-validated. Am. J. Hum. Genet. 55 (1994) 981-990
4. Blomhoff A., Kemp E.H., Gawkrodger D.J., Weetman A.P., Husebye E.S., Akselsen H.E., Lie B.A., and Undlien D.E. CTLA4 polymorphisms are associated with vitiligo in patients with concomitant autoimmune diseases. Pigment Cell Res. 18 (2005) 55-58
5. Alkhateeb A., Stetler G.L., Old W., Talbert J., Uhlhorn C., Taylor M., Fox A., Miller C., Dills D.G., Ridgway E.C., Bennett D.C., Fain P.R., and Spritz R.A. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum. Mol. Genet. 11 (2001) 661-667
6. Spritz R.A., Gowan K., Bennett D.C., and Fain P.R. Novel vitiligo susceptibility loci on chromosomes 7 (ASI2) and 8 (ASI3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am. J. Hum. Genet. 74 (2004) 188-191
7. Tastan H.B., Akak A., Orkunoglu F.E., Arca E., and Inal A. Association of HLA class I antigens and HLA class II alleles with vitiligo in a Turkish population. Pigment Cell Res. 17 (2004) 181-184
8. Fain P.R., Babu S.R., Bennett D.C., and Spritz R.A. HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res. 19 (2006) 51-57
9. Casp C.B., She J.X., and McCormack W.T. Genetic association of the catalase gene (CAT) with vitiligo susceptibility. Pigment Cell Res. 15 (2002) 62-66
10. Tursen U., Kaya T.I., Erdal M.E., Derici E., Gunduz O., and Ikizoglu G. Association between catechol-O-methyltransferase polymorphism and vitiligo. Arch. Dermatol. Res. 294 (2002) 143-146
11. Jin S.Y., Park H.H., Li G.Z., Lee H.J., Hong M.S., Hong S.J., Park H.K., Chung J.H., and Lee M.H. Association of angiotensin converting enzyme gene I/D polymorphism of vitiligo in Korean population. Pigment Cell Res. 17 (2004) 84-86
12. Schallreuter K.U., Wood J.M., and Berger J. Low catalase levels in the epidermis of patients with vitiligo. J. Invest. Dermatol. 97 (1991) 1081-1085
13. 2) accumulation in the epidermis of patients with vitiligo and its successful removal by a UVB-activated pseudocatalase. J. Invest. Dermatol. Symp. Proc. 4 (1999) 91-96
14. Schallreuter K.U., Wood J.J., Pittelkow M.R., Buttner G., Swanson N.N., Korner C., and Ehrke C. Increased monoamine oxidase A activity in the epidermis of patients with vitiligo. Arch. Dermatol. Res. 288 (1996) 14-18
15. Schallreuter K.U., Chavan B., Rokos H., Hibberts N., Panske A., and Wood J.M. Decreased phenylalanine uptake and turnover in patients with vitiligo. Mol. Genet. Metab. 86 Suppl 1 (2005) S27-S33
16. Goth L., Rass P., and Pay A. Catalase enzyme mutations and their association with diseases. Mol. Diagn. 8 (2004) 141-149
17. Goth L., Rass P., and Madarasi I. A novel catalase mutation detected by polymerase chain reaction-single strand confirmation polymorphism, nucleotide sequencing and Western blot analyses is responsible for the type C of Hungarian acatalasemia. Electrophoresis 22 (2001) 49-51
18. Jiang Z., Akey J.M., Shi J., Xiong M., Wang Y., Shen Y., Xu X., Chen H., Wu H., Xiao J., Lu D., Huang W., and Jin L. A polymorphism in the promoter region of catalase is associated with blood pressure levels. Hum. Genet. 109 (2001) 95-98
19. Goth L., and Eaton J.W. Hereditary catalase deficiencies and increased risk of diabetes. The Lancet 356 (2000) 1820-1821
20. Woolf B. On estimating the relation between blood group and disease. Ann. Hum. Genet. 19 (1955) 251-253
21. Goth L., Vitai M., Rass P., Sukei E., and Pay A. Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. Electrophoresis 26 (2005) 1646-1649
22. Kishimoto Y., Murakami Y., Hayashi K., Takahara S., Sugimura T., and Sekiya T. Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. Hum. Genet. 88 (1992) 487-490
23. Wen J.-K., Osumi T., Hashimoto T., and Ogata M. Molecular analysis of human acatalasemia: identification of a splicing mutation. J. Mol. Biol. 211 (1990) 383-393
24. Goth L. A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. Clin. Chim. Acta. 311 (2001) 161-163
25. Goth L., and Vitai M. Polymorphism of the 5′ of the catalase gene in Hungarian acatalasemia and hypocatalasemia. Electrophoresis 18 (1997) 1105-1108
26. Forsberg L., Lyrenas L., De Faire U., and Morgenstern R. A common functional C-T substitution polymorphism in the promoter region of the human catalase gene influences transcription factor binding, reporter gene transcription and is correlated to blood catalase levels. Free Rad. Biol. Med. 30 (2001) 500-505
27. Hazneci E., Karabulut A.B., Ozturk C., Batcioglu K., Dogan G., Karaca S., and Esrefoglu M. A comparative study of superoxide dismutase, catalase, and glutathione peroxidase activities and nitrate levels in vitiligo patients. Int. J. Dermatol. 44 (2005) 636-640
28. Chistiakov D.A., Zotova E.V., Savost′nova K.V., Bursa T.R., Galeev I.V., Strokov I.A., and Nosikov V.V. The 262C/T promoter polymorphism of the catalase gene is associated with diabetic neuropathy in type 1 diabetic Russian patients. Diabetes Metab. 32 (2006) 63-68