YTHDC1 基因多态性与中国儿童肾母细胞瘤易感性的相关性：一项五中心病例对照研究。

YTHDC1 gene polymorphisms and Wilms tumor susceptibility in Chinese children: A five-center case-control study.

机构信息

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 510623, Guangdong, China.

Department of Clinical Laboratory, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

出版信息

Gene. 2021 May 30;783:145571. doi: 10.1016/j.gene.2021.145571. Epub 2021 Mar 16.

DOI:10.1016/j.gene.2021.145571

PMID:33737126

Abstract

Wilms tumor is a common pediatric tumor with abundant genetic drivers. YTHDC1 is an important reader of the N-methyladenosine modification that widely regulates eukaryotic transcripts. YTHDC1 has been associated with the occurrence and development of some tumors. However, this is the first study on YTHDC1 gene polymorphisms and Wilms tumor susceptibility. In brief, we conducted a five-center case-control study to explore the associations between YTHDC1 polymorphisms (rs2293596 T > C, rs2293595 T > C, and rs3813832 T > C) and Wilms tumor susceptibility in Chinese children. A total of 404 cases and 1198 controls were successfully genotyped using TaqMan real-time PCR. Odds ratios (ORs) and 95% confidence intervals (CIs) were used as the evaluation indicators. We found that children with the 2-3 risk genotypes were more likely to develop Wilms tumor than those with the 0-1 risk genotypes (adjusted OR = 1.28, 95% CI = 1.01-1.62, P = 0.042). However, no other statistically significant results were found in this research study. The combined effect of YTHDC1 polymorphisms significantly increases Wilms tumor susceptibility. Our results need to be verified in different populations after increasing the sample size and controlling for confounding factors.

摘要

威尔姆斯瘤是一种常见的儿科肿瘤，有丰富的遗传驱动因素。YTHDC1 是 N6-甲基腺苷修饰的重要阅读器，广泛调节真核转录物。YTHDC1 与一些肿瘤的发生和发展有关。然而，这是首次研究 YTHDC1 基因多态性与威尔姆斯瘤易感性的关系。总之，我们进行了一项五中心病例对照研究，以探讨 YTHDC1 多态性（rs2293596 T>C、rs2293595 T>C 和 rs3813832 T>C）与中国儿童威尔姆斯瘤易感性之间的关系。使用 TaqMan 实时 PCR 成功对 404 例病例和 1198 例对照进行了基因分型。比值比（OR）和 95%置信区间（CI）用作评估指标。我们发现，携带 2-3 个风险基因型的儿童比携带 0-1 个风险基因型的儿童更有可能患上威尔姆斯瘤（调整后的 OR=1.28，95%CI=1.01-1.62，P=0.042）。然而，在这项研究中没有发现其他具有统计学意义的结果。YTHDC1 多态性的联合作用显著增加了威尔姆斯瘤的易感性。我们的结果需要在增加样本量和控制混杂因素后，在不同人群中进行验证。