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印度北部德里人群中常见 CYP1B1 多态性变异的频率。

Frequency of common CYP1B1 polymorphic variations in Delhi population of Northern India.

机构信息

Environmental Biochemistry Lab, Department of Biochemistry, University College of Medical Sciences & Guru Tegh Bahadur Hospital, University of Delhi, Dilshad Garden, Delhi 110 095, India.

出版信息

Environ Toxicol Pharmacol. 2009 Nov;28(3):392-6. doi: 10.1016/j.etap.2009.06.006. Epub 2009 Jun 23.

DOI:10.1016/j.etap.2009.06.006
PMID:21784032
Abstract

Cytochrome P4501B1 (CYP1B1) is an extrahepatic enzyme, important in the activation of procarcinogens. It is expressed in steroidegenic tissues and is active in the metabolism of estradiol. CYP1B1 polymorphisms have been shown to be associated with cancer susceptibility related to environmental toxins and hormone exposure. CYP1B1 is also involved in the metabolism of some clinically relevant anticancer drugs. Polymorphisms in the gene have also been associated in primary open-angle glaucoma (POAG). Their genotypes may also display ethnicity dependent population frequencies. Present study was aimed to determine the frequency of five known CYP1B1 polymorphisms in Delhi population. Frequency of CYP1B1 polymorphisms, CYP1B12, CYP1B13, CYP1B14 and CYP1B17 were found to be 39, 48.8, 47.3 and 17.07% respectively in normal, healthy individuals. Arg48Gly and Ala119Ser were found to be completely linked with each other. Analysis of CYP1B1 polymorphisms might help in predicting the risk of cancer as well as susceptibility to POAG. Our results emphasize the need for more such studies in "high risk populations".

摘要

细胞色素 P4501B1(CYP1B1)是一种肝外酶,在激活前致癌物中起重要作用。它在甾体生成组织中表达,并在雌二醇的代谢中活跃。已经表明 CYP1B1 多态性与与环境毒素和激素暴露相关的癌症易感性有关。CYP1B1 还参与一些临床相关抗癌药物的代谢。该基因中的多态性也与原发性开角型青光眼(POAG)有关。它们的基因型也可能显示出与种族相关的人群频率。本研究旨在确定德里人群中五个已知 CYP1B1 多态性的频率。在正常健康个体中,CYP1B1 多态性、CYP1B12、CYP1B13、CYP1B14 和 CYP1B17 的频率分别为 39%、48.8%、47.3%和 17.07%。Arg48Gly 和 Ala119Ser 被发现彼此完全连锁。CYP1B1 多态性的分析可能有助于预测癌症风险以及对 POAG 的易感性。我们的结果强调了在“高危人群”中进行更多此类研究的必要性。

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