Genetic association of the catalase gene (CAT) with vitiligo susceptibility

Courtney B. Casp, Jin-Xiong She, Wayne T. McCormack

Research output: Contribution to journalArticle

142 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)62-66
Number of pages5
JournalPigment Cell Research
Volume15
Issue number1
DOIs
StatePublished - Jun 1 2002

Fingerprint

Vitiligo
Catalase
catalase
Genes
Association reactions
genes
Oxidative stress
Epidermis
Hydrogen Peroxide
hydrogen peroxide
Acatalasia
Oxidative Stress
oxidative stress
autoimmunity
genetic traits
Deoxyribonuclease I
Biosynthesis
Melanins
DNA Restriction Enzymes
restriction endonucleases

Keywords

  • Genetic susceptibility
  • Melanocytes
  • Oxidative stress

ASJC Scopus subject areas

  • Agronomy and Crop Science
  • Plant Science
  • Developmental Biology
  • Clinical Biochemistry
  • Cell Biology

Cite this

Genetic association of the catalase gene (CAT) with vitiligo susceptibility. / Casp, Courtney B.; She, Jin-Xiong; McCormack, Wayne T.

In: Pigment Cell Research, Vol. 15, No. 1, 01.06.2002, p. 62-66.

Research output: Contribution to journalArticle

Casp, Courtney B. ; She, Jin-Xiong ; McCormack, Wayne T. / Genetic association of the catalase gene (CAT) with vitiligo susceptibility. In: Pigment Cell Research. 2002 ; Vol. 15, No. 1. pp. 62-66.
@article{fa42304e030f47b9a9ee12e4ad80a61f,
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.",
keywords = "Genetic susceptibility, Melanocytes, Oxidative stress",
author = "Casp, {Courtney B.} and Jin-Xiong She and McCormack, {Wayne T.}",
year = "2002",
month = "6",
day = "1",
doi = "10.1034/j.1600-0749.2002.00057.x",
language = "English (US)",
volume = "15",
pages = "62--66",
journal = "Pigment Cell and Melanoma Research",
issn = "1755-1471",
publisher = "Wiley-Blackwell",
number = "1",

}

TY - JOUR

T1 - Genetic association of the catalase gene (CAT) with vitiligo susceptibility

AU - Casp, Courtney B.

AU - She, Jin-Xiong

AU - McCormack, Wayne T.

PY - 2002/6/1

Y1 - 2002/6/1

N2 - 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.

AB - 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.

KW - Genetic susceptibility

KW - Melanocytes

KW - Oxidative stress

UR - http://www.scopus.com/inward/record.url?scp=0035999737&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035999737&partnerID=8YFLogxK

U2 - 10.1034/j.1600-0749.2002.00057.x

DO - 10.1034/j.1600-0749.2002.00057.x

M3 - Article

VL - 15

SP - 62

EP - 66

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

SN - 1755-1471

IS - 1

ER -