Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children.

IF 2.5 Q2 GASTROENTEROLOGY & HEPATOLOGY Clinical and Experimental Gastroenterology Pub Date : 2023-01-01 DOI:10.2147/CEG.S393340

Bingtong Wang, Wenlin Fang, Dingjiang Qin, Qiuming He, Chaoting Lan

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Abstract

Introduction: 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 (PCSK2) gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.

Methods: 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.

Results: We got an unexpected result, PCSK2 SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, P_adj = 0.3208), L-HSCR (OR = 1.07, 95% IC: 0.84~1.36, P_adj = 0.5958) and TCA (OR = 0.94, 95% IC: 0.61~1.47, P_adj = 0.8001).

Conclusion: In summary, we report that rs16998727 (PCSK2 and OTOR) is not associated with the risk of HSCR in southern Chinese population.

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中国南方儿童PCSK2多态性对巨结肠病的易感性

Hirschsprung病(HSCR)是肠神经系统(ENS)的一种发育缺陷，是由肠神经嵴细胞发育异常引起的。其发生有遗传因素和环境因素共同作用。据报道，蛋白转化酶subtilisin/ keexin 2 (PCSK2)基因的单核苷酸多态性(snp)与HSCR相关。然而，中国南方人群HSCR的相关性尚不清楚。方法:采用TaqMan SNP基因分型分析2943份样本，包括1470例HSCR患者和1473例对照，评估rs16998727与中国南方儿童HSCR易感性的关系。采用多变量logistic回归分析rs16998727与表型的相关性检验。结果:PCSK2 SNP rs16998727与HSCR及其HSCR亚型(S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, P_adj = 0.3208)、L-HSCR (OR = 1.07, 95% IC: 0.84~1.36, P_adj = 0.5958)、TCA (OR = 0.94, 95% IC: 0.61~1.47, P_adj = 0.8001)差异无统计学意义。结论:总之，我们报告rs16998727 (PCSK2和OTOR)与中国南方人群HSCR风险无关。

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