慢传输型便秘患者5-羟色胺转运体的基因多态性研究

Serotonin transporter gene polymorphism in slow transit constipation

目的探讨慢传输型便秘(STC)与5-羟色胺转运体基因启动子区(5-HTTLPR)多态性的相关性。方法采用聚合酶链反应技术检测54例STC患者(STC组)和100例正常对照者5-羟色胺转运体基因启动子区多态性的分布频率。结果SIC组5-羟色胺转运体基因启动子区S/S基因型和S等位基因频率分别为72．2%、83．3%。对照组S/S基因型和S等位基因频率分别为50．0%、72．5%,两组间的差异有统计学意义(P＜0．05)。STC组按性别、发病年龄(小于45岁和等于或超过45岁)分组后,比较5-HTTLPR基因多态性差异无统计学意义,但按结肠运输试验72 h后排出标志物是否达到40%分组后,未达到40%组S/S基因型频率明显高于达到组(71．7% vs 42．6%),差异有统计学意义(P＜0．05)。结论5-HTTLPR的S/S型可能参与了慢传输型便秘的发病机制。

Objective To investigate the association between the polymorphism of serotonin transporter gene-linked polymorphic region（5-HTILPR） and slow transit constipation（STC） . Methods Polymerase chain reaction was used to assess 5-HTILPR polymorphism of SERT gene in 54 patients with STC and 100 healthy controls. Results The frequencies of serotonin transporter short/short（S/S） and allele S genotypes were significantly higher in STC patients than those in controls（72. 2% vs 50. 0% ; 83.3% vs 72. 5%; both P 〈 0. 05） . There were no significant differences in 5-HTTLPR polymorphism respectively between the two groups according to gender and age（less than 45 and more than 45 years old） . The frequency of S/S genotype was higher in the patients with less than 40% of the ingested markers evacuated within 72 h than those with more than 40% evacuated （71.7% vs42.6%,P 〈0.05）. Conclusion The presence of 5-HTTLPR allele S may contribute to the pathogenesis of STC.