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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 (<jats:italic>XPD<\/jats:italic>) rs238406 and rs13181 significantly decreased the risk of Wilms tumor [adjusted odds ratio (OR)\u2009=\u20090.59, 95% confidence interval (CI)\u2009=\u20090.46\u20130.75, <jats:italic>p<\/jats:italic> &lt;.0001; adjusted OR\u2009=\u20090.63, 95% CI\u2009=\u20090.44\u20130.89, <jats:italic>p<\/jats:italic>\u2009=\u2009.009, respectively]. Furthermore, the rs751402 and rs2296147 polymorphisms in the xeroderma pigmentosum group G (<jats:italic>XPG<\/jats:italic>) gene were significantly correlated with an increased risk for Wilms tumor (adjusted OR\u2009=\u20091.47, 95% CI\u2009=\u20091.03\u20132.09, <jats:italic>p<\/jats:italic>\u2009=\u2009.034; adjusted OR\u2009=\u20092.14, 95% CI\u2009=\u20091.29\u20133.56, <jats:italic>p<\/jats:italic>\u2009=\u2009.003, respectively). Expression quantitative trait loci (eQTL) analysis revealed that these four polymorphisms may affect the expression of genes that are adjacent to <jats:italic>XPD<\/jats:italic> and <jats:italic>XPG<\/jats:italic>. Our study provides evidence that <jats:italic>XPD<\/jats:italic> and <jats:italic>XPG<\/jats:italic> gene polymorphisms are associated with Wilms tumor risk. Nonetheless, these findings should be confirmed in a larger sample size.<\/jats:p>","DOI":"10.1002\/iub.2919","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T05:49:39Z","timestamp":1729144179000},"page":"1392-1402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic variations in <scp>NER<\/scp> pathway gene polymorphisms and Wilms tumor risk: A six\u2010center case\u2013control study in East China"],"prefix":"10.1002","volume":"76","author":[{"given":"Xueli","family":"Zhan","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou 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Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingling","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shouhua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of General Surgery Jiangxi Provincial Children's Hospital  Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongting","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Qingdao Women and Children's Hospital  Qingdao 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunlei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1954-2892","authenticated-orcid":false,"given":"Jing","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou 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