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.
J Int Med Res. 2020 Oct;48(10):300060520961680. doi: 10.1177/0300060520961680.
Hirschsprung disease (HSCR) originates from disruption of normal neural crest cell migration, differentiation, and proliferation during the fifth to eighth weeks of gestation. This results in the absence of intestinal ganglion cells in the distal intestinal tract. However, genetic variations affecting embryonic development of intestinal ganglion cells are unclear. Therefore, this study aimed to investigated the potential value of rs2289030 G>C as a marker of susceptibility to HSCR.
In this case-control study in southern Chinese children, we collected samples from 1473 controls and 1470 patients with HSCR. TaqMan genotyping of rs2289030 G>C was performed by real-time fluorescent quantitative polymerase chain reaction.
Multivariate logistic regression analysis showed that there was no significant association between the presence of the rs2289030 G>C polymorphism and susceptibility to HSCR by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different HSCR subtypes, rs2289030 G>C was also not associated with HSCR in hierarchical analysis.
Our results suggest that the rs2289030 G>C polymorphism is not associated with susceptibility to HSCR in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with HSCR.
先天性巨结肠（HSCR）起源于胚胎发育第 5 至 8 周期间正常神经嵴细胞迁移、分化和增殖的中断，导致远端肠道缺乏肠神经节细胞。然而，影响肠神经节细胞胚胎发育的遗传变异尚不清楚。因此，本研究旨在探讨 rs2289030 G>C 作为 HSCR 易感性标志物的潜在价值。
在这项中国南方儿童的病例对照研究中，我们收集了 1473 名对照者和 1470 名 HSCR 患者的样本。采用实时荧光定量聚合酶链反应（PCR）对 rs2289030 G>C 进行 TaqMan 基因分型。
多变量 logistic 回归分析表明，通过评估合并优势比（OR）及其 95%置信区间（CI）值，rs2289030 G>C 多态性与 HSCR 易感性之间无显著关联。同样，在不同的 HSCR 亚型中，分层分析也显示 rs2289030 G>C 与 HSCR 无关。
我们的研究结果表明，rs2289030 G>C 多态性与中国南方儿童 HSCR 的易感性无关。这些结果需要通过调查更多具有 HSCR 患者的不同种族人群来进一步证实。
