Tian Yumei, Lin Xiaojuan, Yang Fan, Zhao Jitong, Yao Kui, Bian Ce
Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, P R China.
Medicine (Baltimore). 2020 May 22;99(21):e20299. doi: 10.1097/MD.0000000000020299.
The role of xeroderma pigmentosum complementation group D (XPD) gene polymorphisms in breast and ovarian cancer development has long been controversial and existing data were inconsistent. Here, we conducted a comprehensive systemic review and meta-analysis to better clarify the association.
Relevant case-control studies published in electronic data base from October 1999 to September 2019 were assessed. The statistical analyses of the pooled odds ratios (ORs) and the corresponding 95% confidence intervals (95%CIs) were calculated by using Revman 5.2 software (Cochrane Collaboration, Copenhagen).
31 articles including 38 case-control studies and 2 XPD polymorphisms (rs1799793 and rs238406) were analyzed. The results showed statistical significance in heterozygous mutants among Asian population for rs1799793 (GA vs GG + AA: OR = 1.38, 95%CI = 1.21-1.56), and Caucasian population for rs238406 (CA vs AA + CC: OR = 0.63, 95%CI = 0.49-0.80), while the rest comparisons including overall groups and subgroups stratified by cancer types and ethnicity failed to indicate any association with breast and ovarian cancer risk.
The current meta-analysis suggested no concrete correlation of XPD rs1799793(G/A) and rs238406(C/A) polymorphisms with breast cancer or ovarian cancer susceptibility. However, it indicated that heterozygous genotypes might share different pathophysiologic mechanism from not only homozygous wildtypes but also homozygous mutants. More case-control studies with well-adjusted data and diverse populations are essential for validation of our conclusion.
着色性干皮病互补组D（XPD）基因多态性在乳腺癌和卵巢癌发生中的作用长期以来一直存在争议，现有数据并不一致。在此，我们进行了一项全面的系统评价和荟萃分析，以更好地阐明这种关联。
评估1999年10月至2019年9月在电子数据库中发表的相关病例对照研究。使用Revman 5.2软件（哥本哈根Cochrane协作网）计算合并比值比（OR）及相应的95%置信区间（95%CI）的统计分析。
分析了31篇文章，包括38项病例对照研究和2个XPD多态性（rs1799793和rs238406）。结果显示，在亚洲人群中，rs1799793杂合突变体具有统计学意义（GA与GG+AA相比：OR=1.38，95%CI=1.21-1.56）；在白种人群中，rs238406具有统计学意义（CA与AA+CC相比：OR=0.63，95%CI=0.49-0.80），而其余包括总体组以及按癌症类型和种族分层的亚组的比较均未显示与乳腺癌和卵巢癌风险有任何关联。
当前的荟萃分析表明，XPD rs1799793（G/A）和rs238406（C/A）多态性与乳腺癌或卵巢癌易感性无确切相关性。然而，这表明杂合基因型可能不仅与纯合野生型，而且与纯合突变体具有不同的病理生理机制。更多具有充分校正数据和多样化人群的病例对照研究对于验证我们的结论至关重要。
