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Disease Markers
Volume 22, Issue 5-6, Pages 351-354
http://dx.doi.org/10.1155/2006/980392

The Frequency of Cytochrome P450 2E1 Polymorphisms in Black South Africans

Paul K. Chelule,1 Rosemary J. Pegoraro,2 Nceba Gqaleni,1,3 and Michael F. Dutton4

1Centre for Occupational and Environmental Health, Doris Duke Medical Research Institute, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa
2Department of Chemical Pathology, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa
3Department of Physiology, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa
4Faculty of Health Sciences, Technikon Witwatersrand, Johannesburg, South Africa

Received 18 January 2007; Accepted 18 January 2007

Copyright © 2006 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Polymorphisms in the promoter region of the Cytochrome P4502E1 (CYP2E1) gene reportedly modify the metabolic activity of CYP2E1 enzyme, and have been associated with increased susceptibility to squamous cell carcinoma (SCC) of the oesophagus in high prevalence areas such as China. To assess the frequency of these polymorphisms in Black South Africans, a population with a high incidence of oesophageal SCC, this study examined genomic DNA from 331 subjects for restriction fragment length polymorphisms in the CYP2E1 (RsaI and PstI digestion). The frequency of the CYP2E1 c1/c1 and c1/c3 genotypes was 95% and 5% respectively. The frequency of the CYP2E1 allele distribution was found to be markedly different between Chinese and South African populations; hence it is important to place racial differences into consideration when proposing allelic variants as genetic markers for cancer.