NER通路基因多态性的遗传变异与Wilms肿瘤风险:华东地区六中心病例对照研究。

IF 3.7 3区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
IUBMB Life Pub Date : 2024-10-16 DOI:10.1002/iub.2919
Xueli Zhan, Haixia Zhou, Changmi Deng, Rui-Xi Hua, Lingling Pan, Shouhua Zhang, Hongting Lu, Shaohua He, Yizhen Wang, Jichen Ruan, Chunlei Zhou, Jing He
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引用次数: 0

摘要

核苷酸切除修复(NER)系统是保护生物免受内源性和外源性致癌物质造成的 DNA 损伤的主要途径之一。NER 缺乏会增加基因组突变、染色体畸变和癌症存活率。然而,Wilms 肿瘤与 NER 通路基因多态性之间的遗传关联还需要进一步验证。我们通过TaqMan方法评估了华东地区416例病例和936例对照中19个NER基因多态性与Wilms肿瘤易感性之间的关联。我们发现,色素性角化病 D 组(XPD)rs238406 和 rs13181 能显著降低 Wilms 肿瘤的发病风险[调整后的几率比(OR)= 0.59,95% 置信区间(CI)= 0.46-0.75,P<0.05]。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case–control study in East China

The nucleotide excision repair (NER) system is one of the main ways to protect organisms from DNA damage caused by endogenous and exogenous carcinogens. NER deficiency increases genome mutations, chromosomal aberrations, and cancer viability. However, the genetic association between Wilms tumor and NER pathway gene polymorphisms needs to be further validated. We assessed the associations between 19 NER gene polymorphisms and Wilms tumor susceptibility in 416 cases and 936 controls from East China via the TaqMan method. We found that xeroderma pigmentosum group D (XPD) rs238406 and rs13181 significantly decreased the risk of Wilms tumor [adjusted odds ratio (OR) = 0.59, 95% confidence interval (CI) = 0.46–0.75, p <.0001; adjusted OR = 0.63, 95% CI = 0.44–0.89, p = .009, respectively]. Furthermore, the rs751402 and rs2296147 polymorphisms in the xeroderma pigmentosum group G (XPG) gene were significantly correlated with an increased risk for Wilms tumor (adjusted OR = 1.47, 95% CI = 1.03–2.09, p = .034; adjusted OR = 2.14, 95% CI = 1.29–3.56, p = .003, respectively). Expression quantitative trait loci (eQTL) analysis revealed that these four polymorphisms may affect the expression of genes that are adjacent to XPD and XPG. Our study provides evidence that XPD and XPG gene polymorphisms are associated with Wilms tumor risk. Nonetheless, these findings should be confirmed in a larger sample size.

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来源期刊
IUBMB Life
IUBMB Life 生物-生化与分子生物学
CiteScore
10.60
自引率
0.00%
发文量
109
审稿时长
4-8 weeks
期刊介绍: IUBMB Life is the flagship journal of the International Union of Biochemistry and Molecular Biology and is devoted to the rapid publication of the most novel and significant original research articles, reviews, and hypotheses in the broadly defined fields of biochemistry, molecular biology, cell biology, and molecular medicine.
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