Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk.
Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk.
复制标题
NER 通路基因多态性与肾母细胞瘤风险之间的关联。
DOI：
10.1016/j.omtn.2018.08.002
复制
发表时间：
2018-09-07
期刊：
影响因子：
--
通讯作者：
He J
中科院分区：
文献类型：
--
作者：
Zhu J;Fu W;Jia W;Xia H;Liu GC;He J
核苷酸切除修复（NER）是身体防御外源性致癌物引起的DNA损伤的重要机制。 NER 缺陷可能会损害 DNA 修复能力，从而增加基因组不稳定性和癌症易感性。为了探索肾母细胞瘤的遗传易感性，我们进行了一项病例对照研究，共纳入 145 例神经母细胞瘤病例和 531 例健康对照。我们系统地选择了 NER 通路内 6 个关键基因（ERCC1、XPA、XPC、XPD、XPF 和 XPG）中的 19 个潜在功能 SNP。计算比值比 (OR) 和 95% 置信区间 (CI) 以衡量关联强度。我们发现两个 XPD SNP 与肾母细胞瘤风险之间存在显着关联。 XPD rs3810366 多态性显着增加肾母细胞瘤风险（主导模型：调整 OR = 2.12，95% CI = 1.26–3.57）。同样，XPD rs238406 导致该疾病的风险显着增加（显性模型：调整后 OR = 2.30，95% CI = 1.40–3.80；隐性模型：调整后 OR = 1.64，95% CI = 1.11–2.44）。此外，在线表达数量性状位点（eQTL）分析表明，这两种多态性显着影响转化成纤维细胞中的XPD基因表达。我们的研究提供了两种 XPD 多态性与肾母细胞瘤风险之间关联的证据。然而，这些发现值得在更大规模的研究中得到验证。
Nucleotide excision repair (NER) is an essential mechanism of the body to defend against exogenous carcinogen-induced DNA damage. Defects in NER may impair DNA repair capacity and, therefore, increase genome instability and cancer susceptibility. To explore genetic predispositions to Wilms tumor, we conducted a case-control study totaling 145 neuroblastoma cases and 531 healthy controls. We systematically selected 19 potentially functional SNPs in six key genes within the NER pathway (ERCC1, XPA, XPC, XPD, XPF, and XPG). The odds ratio (OR) and 95% confidence interval (CI) were calculated to measure the strength of associations. We identified significant associations between two XPD SNPs and Wilms tumor risk. The XPD rs3810366 polymorphism significantly enhanced Wilms tumor risk (dominant model: adjusted OR = 2.12, 95% CI = 1.26–3.57). Likewise, XPD rs238406 conferred a significantly increased risk for the disease (dominant model: adjusted OR = 2.30, 95% CI = 1.40–3.80; recessive model: adjusted OR = 1.64, 95% CI = 1.11–2.44). Moreover, online expression quantitative trait locus (eQTL) analysis demonstrated that these two polymorphisms significantly affected XPD gene expression in transformed fibroblast cells. Our study provides evidence of the association between the two XPD polymorphisms and Wilms tumor risk. However, these findings warrant validation in larger studies.
登录
查看更多内容
影响因子：
2.7
作者：
Fu, Wen;Liu, Guo-Chang;Xia, Huimin
通讯作者：
Xia, Huimin
影响因子：
--
作者：
He BS;Xu T;Pan YQ;Wang HJ;Cho WC;Lin K;Sun HL;Gao TY;Wang SK
通讯作者：
Wang SK
影响因子：
1.9
作者：
Beckwith, JB
通讯作者：
Beckwith, JB
XPG 基因的遗传变异与中国南方人群胃癌风险之间的关联。
DOI：
10.18632/aging.101119
发表时间：
2016-12-06
期刊：
Aging
影响因子：
--
作者：
Hua RX;Zhuo ZJ;Zhu J;Jiang DH;Xue WQ;Zhang SD;Zhang JB;Li XZ;Zhang PF;Jia WH;Shen GP;He J
通讯作者：
He J
影响因子：
4
作者：
Fu W;Zhuo ZJ;Jia W;Zhu J;Zhu SB;Lin ZF;Wang FH;Xia H;He J;Liu GC
通讯作者：
Liu GC