着色性干皮病D组多态性在卵巢癌易感性中的重要性。

Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer.

作者信息

Costa Sandra, Pinto Daniela, Pereira Deolinda, Vasconcelos André, Afonso-Lopes Carlos, Osório Teresa, Lopes Carlos, Medeiros Rui

机构信息

ICVS, Life and Health Sciences Research Institute, Health Science School, Minho University, Braga, Portugal.

出版信息

Cancer Lett. 2007 Feb 8;246(1-2):324-30. doi: 10.1016/j.canlet.2006.03.014. Epub 2006 May 4.

DOI:10.1016/j.canlet.2006.03.014

PMID:16677755

Abstract

The purpose of this study was to evaluate the role of XPD genotypes as genetic indicator of susceptibility to ovarian cancer. We have used a case-control study. We analysed DNA samples from 141 ovarian cancer patients and 202 control subjects, for three XPD polymorphisms using PCR-RFLP. We observed that Asn312Asn XPD genotype carriers have increased susceptibility of ovarian cancer (OR=2.46 95% CI 1.20-5.06; P=0.015). Furthermore, we found that carriers of Gln751Gln XPD genotype have an increased susceptibility of ovarian cancer (OR=3.40 95% CI 1.61-7.15; P=0.001). Asn312Asn and Gln751Gln are particularly associated with an early-stage of disease. Our results suggest an important role for Asn312Asn and Gln751Gln XPD polymorphisms in the susceptibility to ovarian cancer.

摘要

本研究的目的是评估XPD基因分型作为卵巢癌易感性遗传指标的作用。我们采用了病例对照研究。我们使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析了141例卵巢癌患者和202例对照者的DNA样本，检测三种XPD基因多态性。我们观察到Asn312Asn XPD基因分型携带者患卵巢癌的易感性增加（比值比=2.46，95%置信区间1.20-5.06；P=0.015）。此外，我们发现Gln751Gln XPD基因分型携带者患卵巢癌的易感性增加（比值比=3.40，95%置信区间1.61-7.15；P=0.001）。Asn312Asn和Gln751Gln尤其与疾病的早期阶段相关。我们的结果表明Asn312Asn和Gln751Gln XPD基因多态性在卵巢癌易感性中起重要作用。