Wang Bang-mao, Wang Yu-ming, Zhang Wei-ming, Zhang Qing-yu, Liu Wen-tian, Jiang Kui, Zhang Jie
Department of Gastroenterology, Tianjin Medical University Hospital, Tianjin 300052, China.
Zhonghua Nei Ke Za Zhi. 2004 Jun;43(6):439-41.
To investigate the association of serotonin transporter (SERT) gene polymorphism with irritable bowel syndrome (IBS).
The VNTRs and 5-HTTLPR polymorphism of SERT gene was assessed with polymerase chain reaction in 81 patients with IBS and 48 healthy subjects(HS).
Compared with HS, IBS patients have a greater frequency of STin2.12/10 genotype in VNTRs region and a smaller frequency of STin2.12/12 genotype, however no significant difference was found in polymorphism of this region among the patients with C-IBS, D-IBS and A-IBS. We also found that the 5-HTTLPR allele L/L genotype occurred with greater frequency in C-IBS patients than in other two subgroups, whereas the L/S genotype occurred with smaller frequency in C-IBS. The frequency of association between 12/12 genotype and L/L genotype (12/12-L/L) in C-IBS was significantly higher than those in A-IBS and HS.
The presence of STin2.12/10 genotype may be correlated with IBS. The presence of L/L genotype and 12/12-L/L genotype association in IBS patients carries an increased risk of C-IBS, whereas the presence of the L/S genotype carries an increased risk of D-IBS and A-IBS.
探讨5-羟色胺转运体（SERT）基因多态性与肠易激综合征（IBS）的相关性。
采用聚合酶链反应对81例IBS患者和48例健康对照者（HS）的SERT基因可变数目串联重复序列（VNTRs）及5-羟色胺转运体基因启动子区（5-HTTLPR）多态性进行检测。
与HS相比，IBS患者VNTRs区STin2.12/10基因型频率更高，STin2.12/12基因型频率更低，然而在便秘型IBS（C-IBS）、腹泻型IBS（D-IBS）和不定型IBS（A-IBS）患者中该区域多态性无显著差异。我们还发现，C-IBS患者中5-HTTLPR等位基因L/L基因型频率高于其他两个亚组，而L/S基因型频率低于其他两个亚组。C-IBS患者中12/12基因型与L/L基因型（12/12-L/L）的联合频率显著高于A-IBS患者和HS。
STin2.12/10基因型的存在可能与IBS相关。IBS患者中L/L基因型及12/12-L/L基因型联合的存在增加了C-IBS的发病风险，而L/S基因型的存在增加了D-IBS和A-IBS的发病风险。
