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.
Biosci Rep. 2020 May 29;40(5). doi: 10.1042/BSR20193989.
MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were used for estimating the strength of interrelation between them. We found that the CA/AA genotypes of miR-618 rs2682818 were associated with a decreased risk of HSCR when compared with the CC genotype (OR = 0.84, 95% CI = 0.72-0.99, P=0.032). Based on the stratified analysis of HSCR subtypes, the rs2682818 CA/AA genotypes were able to significantly lessen the risk of HSCR compared with CC genotype in patients with long-segment HSCR (adjusted OR = 0.70, 95% CI = 0.52-0.93, P=0.013). In conclusion, our results indicated that the miR-618 rs2682818 C>A polymorphism was associated with a reduced risk of HSCR in Chinese children, especially in patients with long-segment HSCR (L-HSCR) subtype.
微小 RNA（miRNAs）是内源性非编码小 RNA，在许多恶性肿瘤的发生发展中发挥着重要作用。此外，最近的研究表明，位于 miRNA 功能区域的单核苷酸多态性（SNPs）与肿瘤易感性密切相关。本研究旨在探讨中国南方人群 miR-618 rs2682818 C>A 单核苷酸多态性与先天性巨结肠（HSCR）易感性之间的关系。使用比值比（ORs）和 95%置信区间（CIs）来评估它们之间的关联强度。结果显示，与 CC 基因型相比，miR-618 rs2682818 的 CA/AA 基因型与 HSCR 风险降低相关（OR=0.84，95%CI=0.72-0.99，P=0.032）。根据 HSCR 亚型的分层分析，与 CC 基因型相比，rs2682818 的 CA/AA 基因型可显著降低长段 HSCR（调整 OR=0.70，95%CI=0.52-0.93，P=0.013）患者的 HSCR 风险。综上所述，我们的研究结果表明，miR-618 rs2682818 C>A 多态性与中国儿童 HSCR 发病风险降低相关，尤其与长段 HSCR（L-HSCR）亚型相关。
