Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China

doi:10.1002/iub.2919

科研成果详情

题名	Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China
作者	Zhan, Xueli 1; Zhou, Haixia2,3; Deng, Changmi 1; Hua, Rui-Xi 1; Pan, Lingling 1; Zhang, Shouhua 4; Lu, Hongting 5; He, Shaohua 6; Wang, Yizhen 7; Ruan, Jichen2,3; Zhou, Chunlei 8; He, Jing 1
发表日期	2024-10-16
发表期刊	IUBMB LIFE 影响因子和分区
语种	英语
原始文献类型	Article ; Early Access
关键词	nucleotide excision repair polymorphism susceptibility Wilms tumor
其他关键词	DNA-REPAIR GENES ; CANCER-RISK ; ASSOCIATION ; MUTATIONS ; XPD ; EXPRESSION ; BINDING ; BASE
摘要	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.
资助项目	Youth Medical Innovation and Practice Research Program of Guangzhou; Major Science and Technology Special Project of Wenzhou [ZY2020021]; Natural Science Foundation of Zhejiang Province [LGF21H260012]; National Natural Science Foundation of China [82003523]; [2023QNYXYB010]
出版者	WILEY
ISSN	1521-6543
EISSN	1521-6551
DOI	10.1002/iub.2919
页数	11
WOS类目	Biochemistry & Molecular Biology ; Cell Biology
WOS研究方向	Biochemistry & Molecular Biology ; Cell Biology
WOS记录号	WOS:001334489800001
收录类别	SCIE ; PUBMED
URL	查看原文
PubMed ID	3941546
通讯作者地址	[He, Jing]Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangdong Prov Key Lab Res Struct Birth Defect Dis, Guangzhou Inst Pediat,Dept Pediat Surg, 9 Jinsui Rd, Guangzhou 510623, Peoples R China. ; [Zhou, Chunlei]Nanjing Med Univ, Childrens Hosp, Dept Pathol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China.
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/220622
专题	附属第二医院第二临床医学院、附属第二医院、育英儿童医院附属第二医院_血液内科
通讯作者	Zhou, Chunlei; He, Jing
作者单位	1.Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangdong Prov Key Lab Res Struct Birth Defect Dis, Guangzhou Inst Pediat,Dept Pediat Surg, 9 Jinsui Rd, Guangzhou 510623, Peoples R China; 2.Wenzhou Med Univ, Affiliated Hosp 2, Dept Hematol, Key Lab Pediat Hematol & Oncol Dis Wenzhou, Wenzhou, Peoples R China; 3.Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Peoples R China; 4.Jiangxi Prov Childrens Hosp, Dept Gen Surg, Nanchang, Peoples R China; 5.Qingdao Women & Childrens Hosp, Dept Pediat Surg, Qingdao, Peoples R China; 6.Fujian Med Univ, Shengli Clin Med Coll, Dept Pediat Surg, Fuzhou, Peoples R China; 7.Anhui Prov Childrens Hosp, Dept Pathol, Hefei, Peoples R China; 8.Nanjing Med Univ, Childrens Hosp, Dept Pathol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China
推荐引用方式 GB/T 7714	Zhan, Xueli,Zhou, Haixia,Deng, Changmi,et al. Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China[J]. IUBMB LIFE,2024.
APA	Zhan, Xueli., Zhou, Haixia., Deng, Changmi., Hua, Rui-Xi., Pan, Lingling., ... & He, Jing. (2024). Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China. IUBMB LIFE.
MLA	Zhan, Xueli,et al."Genetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China".IUBMB LIFE (2024).