功能性便秘儿童5-羟色胺转运体基因多态性研究

摘要

目的 探讨5-羟色胺转运体(SERT)基因在儿童功能性便秘(FC)的发病机制中的意义.方法 选择2009年7-12月中国医科大学附属盛京医院FC患儿35例(便秘组),对照儿童50名(对照组),对5-羟色胺转运体基因两个多态区5-羟色胺转运体基因多态(5-HTTLPR)、内含子2的可变串联重复区(VNTRs)进行PCR扩增.结果 便秘组患儿基因型分布与对照组差异有统计学意义(x2=10.24,P＜0.05)；便秘组患儿S/S基因型显著高于对照组(x2=9.21,P＜0.05)；便秘组患儿S等位基因频率显著高于对照组(x2=4.86,P＜0.05).SERT基因内含子2VNTRs多态性位点基因型分布差异无统计学意义(x2=0.40,P＞0.05)；SERT基因内含子2 VNTRs多态性位点等位基因分布差异无统计学意义(x2=0.01,P＞0.05).结论 SERT基因5-HTTLPR可能与儿童FC有关,S/S基因型可能是FC的易感基因之一.%Objective To investigate the relationship between serotonin transporter gene-linked polymorphism (5-HT-TLPR)and functional constipation (FC) in children. Methods Totally 35 patients with FC and 50 healthy subjects were included in the study in Shengjing Hospital, China Medical University,from July to December in 2009. PCR was used to compare 5-HTTLPR and VNTRs polymorphism of serotonin transporter gene in the patients with FC. Results When the frequencies of the 5-HTTLPR genotypes were compared between the patient group and control group for the same age, significant difference was noted (x2 = 10.24,P<0.05). The S/S genotype frequency in FC was significantly higher than that in control (x2 = 9.21 ,P<0.05). The S allele frequency in FC was significantly higher than that in control group (x2 = 4.86, P< 0.05). No significant difference was found between FC and control in VNTRs polymorphism within intron 2 of SERT gene (x2 = 0.40, P> 0.05). No significant difference with regard to 12 allele frequency was noted ( x2 = 0.01, P > 0.05). Conclusion The presence of 5-HTTLPR S/S genotype and S allele in patients probably carry an increased risk of FC.