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目的探讨5-羟色胺转运体(SERT)基因启动子区域(5-HTTLPR)与第2内含子可变数目串联重复序列(VNTRs)多态性在正常人及肠易激综合征(IBS)患者的分布及对替加色罗治疗便秘型IBS(C-IBS)疗效的影响。方法用PCR检测87例IBS和96例对照者外周血2个基因的多态性;给予41例C-IBS患者4周替加色罗6 mg,2次／d,治疗前后评估临床症状及便秘程度。结果IBS组5-HTTLPR基因型频率是S／S:52．9％,S／L:31．0％,L／L:16．1％;对照组分别为57．3％, 35．4％及7．3％;IBS组VNTRs基因型频率是STin2．10／10:2．3％,STin2．12／10:17．2％,STin2．12／12: 80．5％;对照组分别为2．1％,11．4％及86．5％;两组差异无统计学意义(P>0．05),但C-IBS组的L／L频率比对照组显著高(25．0％比7．3％,P<0．05)。治疗后症状缓解率S／S型为85．0％, S／L型为70．0％,均显著优于L／L型的36．4％(P<0．05);主体症状评分和单个症状(排便次数、粪便性状、便后排空感等)改善在S／S和L／S型均优于L／L型(P<0．05)。结论SERT基因多态性总体与IBS发病无关,但L／L型更易患C-IBS。替加色罗对C-IBS的疗效受基因型影响,L／L型疗效较差。
Objective To investigate the relationship between the 5-HTTLPR gene and the variable number 2 intron VNTRs in normal subjects and patients with irritable bowel syndrome (IBS) Distribution and the effect of tegaserod on constipation-type IBS (C-IBS). Methods The polymorphisms of two genes in peripheral blood of 87 IBS patients and 96 controls were detected by polymerase chain reaction (PCR). 41 patients with C-IBS were treated with tegaserod 6 mg twice daily for 4 weeks. The clinical symptoms and constipation were evaluated before and after treatment degree. Results The frequencies of 5-HTTLPR genotype in IBS group were S / S 52.9%, S / L 31.0%, L / L 16.1%, and controls 57.3%, 35.4% And 7.3%, respectively. The frequencies of VNTRs in IBS group were STin2.10 / 10: 2.3%, STin2.12 / 10: 17.2% and STin2.12 / 12: 80.5% 2.1%, 11.4% and 86.5% respectively. There was no significant difference between the two groups (P> 0.05), but the L / L frequency in C-IBS group was significantly higher than that in control group (25.0% Than 7.3%, P <0.05). Symptom remission rate after treatment was 85.0% for S / S type and 70.0% for S / L type, which were significantly better than that of L / L type (36.4%, P <0.05) The improvement of single symptom (defecation frequency, stool trait, postprandial emptying, etc.) was superior to L / L type in S / S and L / S (P <0.05). Conclusion The overall SERT gene polymorphism has nothing to do with the pathogenesis of IBS, but L / L is more susceptible to C-IBS. The effect of tegaserod on C-IBS is affected by genotype, while L / L is less effective.