Zhong Jun, Liu Jiabin, Zheng Yi, Xie Xiaoli, He Qiuming, Zhong Wei, Wu Qiang
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women & Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Per Med. 2021 Sep;18(6):551-558. doi: 10.2217/pme-2021-0001. Epub 2021 Nov 11.
To explore the association between T>C polymorphism and Hirschsprung disease (HSCR) risk in Chinese children. We conducted a case-control study in a Chinese population with 1381 cases and 1457 controls. The associated correlation strengths were assessed by adjusted odds ratios (AORs) and 95% CIs. The results revealed that the TC and TC/CC genotype were related to an increased HSCR risk compared to the risk contributed by the TT genotype. A stratification analysis showed that the TC/CC genotype promoted the progression of HSCR more significantly in patients with the short-segment HSCR subtype. Our study indicated that T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.
为探讨中国儿童中T>C多态性与先天性巨结肠症（HSCR）风险之间的关联。我们在中国人群中开展了一项病例对照研究，有1381例病例和1457例对照。通过调整后的比值比（AORs）和95%置信区间（CIs）评估相关的关联强度。结果显示，与TT基因型所带来的风险相比，TC和TC/CC基因型与HSCR风险增加相关。分层分析表明，在短段型HSCR亚型患者中，TC/CC基因型更显著地促进了HSCR的进展。我们的研究表明，T>C多态性与中国儿童的HSCR风险显著相关。这一结果需要通过精心设计的研究加以证实。
