Wang Bingtong, Fang Wenlin, Qin Dingjiang, He Qiuming, Lan Chaoting
Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People's Republic of China.
Clin Exp Gastroenterol. 2023 May 15;16:59-64. doi: 10.2147/CEG.S393340. eCollection 2023.
Hirschsprung's disease (HSCR) is a developmental defect of the enteric nervous system (ENS), which is caused by abnormal development of enteric neural crest cells. Its occurrence is caused by genetic factors and environmental factors. It has been reported that single nucleotide polymorphisms (SNPs) of proprotein convertase subtilisin/kexin type 2 () gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.
We assessed the association of rs16998727 with HSCR susceptibility in southern Chinese children using TaqMan SNP genotyping analysis of 2943 samples, including 1470 HSCR patients and 1473 controls. The association test between rs16998727 and phenotypes was performed using multivariable logistic regression analysis.
We got an unexpected result, SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.931.27, = 0.3208), L-HSCR (OR = 1.07, 95% IC: 0.841.36, P_adj = 0.5958) and TCA (OR = 0.94, 95% IC: 0.61~1.47, = 0.8001).
In summary, we report that rs16998727 ( and ) is not associated with the risk of HSCR in southern Chinese population.
先天性巨结肠症（HSCR）是一种肠神经系统（ENS）的发育缺陷，由肠神经嵴细胞异常发育引起。其发生是由遗传因素和环境因素导致的。据报道，前蛋白转化酶枯草杆菌蛋白酶/kexin 2型（）基因的单核苷酸多态性（SNP）与HSCR相关。然而，在中国南方人群中HSCR的相关性仍不清楚。
我们采用TaqMan SNP基因分型分析对2943份样本进行检测，其中包括1470例HSCR患者和1473例对照，评估rs16998727与中国南方儿童HSCR易感性的关联。使用多变量逻辑回归分析进行rs16998727与表型之间的关联测试。
我们得到了一个意外的结果，SNP rs16998727与HSCR及其HSCR亚型：短段型HSCR（OR = 1.08，95%置信区间：0.931.27，P = 0.3208）、长段型HSCR（OR = 1.07，95%置信区间：0.841.36，校正P值 = 0.5958）和全结肠无神经节细胞症（OR = 0.94，95%置信区间：0.61~1.47，P = 0.8001）之间无显著差异。
总之，我们报道rs16998727（和）与中国南方人群HSCR的风险无关。
