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印度西孟加拉邦暴露人群中,单核苷酸多态性与砷诱导的皮肤损伤及遗传损伤的关联。

Association of single nucleotide polymorphism with arsenic-induced skin lesions and genetic damage in exposed population of West Bengal, India.

作者信息

Das Nandana, Giri Allan, Chakraborty Sayan, Bhattacharjee Pritha

机构信息

Molecular Genetics Division, Indian Institute of Chemical Biology, Kolkata-700032, India.

Department of Environmental Science, University of Calcutta, Kolkata-700019, India.

出版信息

Mutat Res Genet Toxicol Environ Mutagen. 2016 Oct;809:50-56. doi: 10.1016/j.mrgentox.2016.09.006. Epub 2016 Sep 9.

Abstract

Long term consumption of arsenic contaminated water causes a number of dermatological and non-dermatological health problems and cancer. In a Genome Wide Association Study (GWAS) on Bangladesh population, a significant association of asingle nucleotide polymorphism (SNP) in the C10orf32 region (rs 9527; G>A) with urinary metabolites and arsenic induced skin lesions was reported. This study aims to evaluate the association of the C10orf32 G to A polymorphism (rs9527), concerned with As3MT read-through transcription, with the development of arsenic induced skin lesions in the arsenic exposed individuals of West Bengal, India. A total of 157 individuals with characteristic skin lesions (cases) and 158 individuals without any skin lesion (controls) were recruited for this study. The G>A polymorphism (rs9527) having at least one minor allele 'A' was found to be significantly higher in cases compared to controls, implying increased risk toward the development of skin lesions. The risk genotype was also found to be significantly associated with cytogenetic damage as measured by chromosomal aberrations and micronuclei formation in lymphocytes. Hence, it can be concluded that G>A change in the C10orf32 region plays an important role in arsenic induced toxicity and susceptibility.

摘要

长期饮用受砷污染的水会导致多种皮肤和非皮肤健康问题以及癌症。在一项针对孟加拉国人群的全基因组关联研究(GWAS)中,报告了C10orf32区域的一个单核苷酸多态性(SNP,rs9527;G>A)与尿液代谢物及砷诱导的皮肤病变之间存在显著关联。本研究旨在评估与As3MT通读转录相关的C10orf32基因G到A多态性(rs9527)与印度西孟加拉邦砷暴露个体中砷诱导的皮肤病变发生之间的关联。本研究共招募了157例有特征性皮肤病变的个体(病例组)和158例无任何皮肤病变的个体(对照组)。发现具有至少一个次要等位基因“A”的G>A多态性(rs9527)在病例组中显著高于对照组,这意味着皮肤病变发生风险增加。还发现风险基因型与淋巴细胞染色体畸变和微核形成所测量的细胞遗传损伤显著相关。因此,可以得出结论,C10orf32区域的G>A变化在砷诱导的毒性和易感性中起重要作用。

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