Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China
Biosci Rep. 2019 Aug 13;39(8). doi: 10.1042/BSR20182290. Print 2019 Aug 30.
Hirschsprung's disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and has a gene-dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.
先天性巨结肠（HSCR）是一种神经发育障碍，其特征是肠内缺乏神经，具有强烈的遗传成分。 在韩国人群中发现与 HSCR 相关，等待在独立队列中复制。 在本研究中，从中国南方人群中选择了 10 个在 中的单核苷酸多态性（SNP），共纳入 1470 例 HSCR 病例和 1473 例匹配的健康对照。我们的结果表明，SNP rs7640009 与 HSCR 相关，并且在肠神经系统（ENS）发育过程中无神经节段的程度上具有基因剂量效应。这是首次揭示 SNP rs2191026 与 HSCR 相关的结肠炎（HAEC）易感性之间的关系。
