ALKBH1 Gene rs6494 T>A Polymorphism Decreases Wilms Tumour Risk in Chinese Children
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Le résumé fourni par la source
Wilms tumour (WT) is the most predominant renal carcinoma that affects children, and the understanding of the genetic mechanisms underlying WT development is continually evolving. The role of the demethylase ALKBH1, which is known for its association with diverse cancers, in WT has never been explored. Here, we aimed to investigate the associations between genetic variants of ALKBH1 and WT risk in Chinese children. A total of 414 WT patients and 1199 healthy controls were recruited from five centres in China. Three polymorphisms (rs1048147, rs6494 and rs176942) of the ALKBH1 gene were genotyped via the TaqMan genotyping assay. We found that rs6494 T>A was significantly associated with a reduced risk of WT [TA vs. TT: adjusted odds ratio (AOR) = 0.59, 95% confidence interval (CI) = 0.39-0.87, p = 0.009; TA/AA vs. TT: AOR = 0.61, 95% CI = 0.42-0.91, p = 0.014]. Stratification analysis revealed that the protective genotype of rs6494 (TA/AA) was significantly associated with reduced WT risk in subgroups with ages younger than 18 months, male sex and clinical stages III and III-IV. Moreover, through eQTL analysis, we observed that rs6494 T>A was associated with reduced ALKBH1 expression and elevated SNW1 and ADCK1 expression. We identified the rs6494 T>A polymorphism of the ALKBH1 gene as a WT susceptibility locus, providing valuable insights into the etiology underlying WT susceptibility.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- <i>ALKBH1</i> Gene rs6494 T>A Polymorphism Decreases Wilms Tumour Risk in Chinese Children
- Date Crossref
- 01/09/2025
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Guangzhou Women and Children Medical Center pays non établi dans la noticeÉtablissement de santé
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Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease pays non établi dans la noticeStructure de recherche
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Guangzhou Medical University Department of Pediatric Surgery pays non établi dans la noticeUniversité ou école supérieure
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Wenzhou Medical University Department of Hematology pays non établi dans la noticeUniversité ou école supérieure
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Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University pays non établi dans la noticeÉtablissement de santé
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Xi’an Children’s Hospital pays non établi dans la noticeÉtablissement de santé
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Second Affiliated Hospital of Xi'an Jiaotong University Department of Pediatric Surgery pays non établi dans la noticeÉtablissement de santé
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Shaoxing City Women and Children Hospital pays non établi dans la noticeÉtablissement de santé
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Shanxi Provincial Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Shanxi Cardiovascular Hospital pays non établi dans la noticeÉtablissement de santé
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Zhengzhou University Department of Pediatric Surgery pays non établi dans la noticeUniversité ou école supérieure
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First Affiliated Hospital of Zhengzhou University pays non établi dans la noticeÉtablissement de santé
Guangzhou Women and Children Medical Center, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease et Department of Pediatric Surgery — Guangzhou Medical University, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.