Arch Toxicol. 2009 Oct 16.
Association of XPD/ERCC2 G ( 23591 ) A and A ( 35931 ) C polymorphisms with skin lesion prevalence in a multiethnic, arseniasis-hyperendemic village exposed to indoor combustion of high arsenic coal.
Lin GF, Du H, Chen JG, Lu HC, Guo WC, Golka K, Shen JH. Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 300 Fenglin Road, 200032, Shanghai, China.
More than 2,000 arsenic-related skin lesions (as at 2002) in a few villages of China’s Southwest Guizhou Autonomous Prefecture represent a unique case of endemic arseniasis related with indoor combustion of high-arsenic coal. The skin lesion prevalence was significantly higher in ethnic Han villagers than in ethnic Hmong villagers.
This study was focused on a possible involvement of XPD/ERCC2 G ( 23591 ) A and A ( 35931 ) C polymorphisms in risk modulation of skin lesions and in the body burden of As in this unique case of As exposure. G ( 23591 ) A and A ( 35931 ) C were genotyped by a PCR-based procedure. Total As contents in hair and urine samples as well as environmental samples of the homes of the two ethnic clans were analysed. A significant higher presentation of A/A ( 35931 ) (homozygous wild) genotype in both clans was found in skin lesion patients, compared with their asymptomatic fellow villagers (67.1 vs. 46.3%, OR 2.36, 95% CI 1.35-4.14, P = 0.002).
Interestingly, the population frequencies of the A/A ( 35931 ) genotype did not show significant differences between ethnic Han villagers and their Hmong neighbours (47.1 vs. 45.5%). Very low frequencies of homozygous and heterozygous variant genotypes of G ( 23591 ) A were recorded in the residents in target village. G/A ( 23591 ) and A/A ( 23591 ) were detected only in 3.2% (8/244) and 0.8% (2/244) of the villagers, respectively. The polymorphic status at the locus of A ( 35931 ) C might modulate the risk for arsenic-related skin lesions in the investigated groups.