Department of Pediatrics, Zhoukou Central Hospital, Zhoukou, Henan Province, China.
J Investig Med. 2018 Jun;66(5):1-8. doi: 10.1136/jim-2017-000623. Epub 2018 Apr 4.
By performing a basic case-control study among a Chinese population, the aims of this study were to explore if single nucleotide polymorphisms (SNPs) within neurexin and neuroligin were associated with susceptibility to Hirschsprung's disease (HD). Eleven SNPs within neurexin and neuroligin were selected in this basic case-control study, and this study recruited 210 children with HD and 187 healthy children. The t-test and Χ test were used to find the difference between case and control in their clinical variables. OR and 95% CI were used to assess the association between HD susceptibility and neurexin/neuroligin polymorphisms/haplotypes. Several SNPs were significantly associated with altered risk of HD in the Chinese Han population, including rs1421589 within , rs11795613 and rs4844285 within as well as rs5961397, rs7157669 and rs724373 within (all P<0.05). Further studies presented that the effects of rs1421589 within , rs4844285 and rs11795613 within , as well as rs5961397 within on HD phenotypes were also statistically significant (all P<0.05). Conclusively, the polymorphisms and haplotypes situated within neurexin and neuroligin were markedly associated with the onset of HD, implying that mutations of neurexin and neuroligin might serve as the treatment target for HD for the Chinese children.
通过在中国人群中进行一项基本的病例对照研究，本研究旨在探讨神经连接蛋白和神经黏附素中的单核苷酸多态性（SNPs）是否与先天性巨结肠病（HD）的易感性相关。在这项基本的病例对照研究中，选择了神经连接蛋白和神经黏附素中的 11 个 SNPs，并招募了 210 名患有 HD 的儿童和 187 名健康儿童。使用 t 检验和 Χ 检验比较病例组和对照组之间的临床变量差异。使用 OR 和 95%CI 评估神经连接蛋白/神经黏附素多态性/单倍型与 HD 易感性之间的关联。在中国汉族人群中，一些 SNPs 与 HD 的风险改变显著相关，包括 内的 rs1421589、 内的 rs11795613 和 rs4844285 以及 内的 rs5961397、rs7157669 和 rs724373（均 P<0.05）。进一步的研究表明， 内的 rs1421589、rs4844285 和 rs11795613 以及 内的 rs5961397 对 HD 表型的影响也具有统计学意义（均 P<0.05）。总之，神经连接蛋白和神经黏附素中的多态性和单倍型与 HD 的发病显著相关，表明神经连接蛋白和神经黏附素的突变可能成为中国儿童 HD 的治疗靶点。
