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肠易激综合征中的5-羟色胺转运体基因多态性

Serotonin transporter gene polymorphism in irritable bowel syndrome.

作者信息

Pata Cengiz, Erdal M Emin, Derici Ebru, Yazar Aziz, Kanik Arzu, Ulu Oguz

机构信息

Department of Internal Medicine, Faculty of Medicine, University of Mersin, Turkey.

出版信息

Am J Gastroenterol. 2002 Jul;97(7):1780-4. doi: 10.1111/j.1572-0241.2002.05841.x.

Abstract

OBJECTIVES

Serotonin is a key mediator of intestinal peristalsis, and after it is secreted, it is effectively cleansed from the neuronal gap by means of a high affinity substance called serotonin transporter (SERT), which depends on the Na+ and Cl- ions localized in the presynaptic neuronal membranes. The aim of this study was to investigate SERT polymorphism in patients with irritable bowel syndrome (IBS).

METHODS

SERT gene polymorphism was assessed by polymerase chain reaction on DNA chains obtained from leukocytes in serum samples from 54 patients diagnosed with IBS and 91 healthy subjects. The polymorphism of two regions (variable number tandem repeats and the SERT gene-linked polymorphic region [5-HTTLPR]) of SERT was assessed.

RESULTS

SERT polymorphisms were found to be similar in healthy subjects and IBS patients (p > 0.05). IBS patients were divided into three groups: diarrhea predominant (n = 18), constipation predominant (n = 26), and alternating diarrhea and constipation (n = 10). These groups were compared with respect to gene polymorphism, and it was found that the 5-HTTLPR allele S/S genotype occurred with greater frequency in the constipation predominant group than in the other two subgroups (p < 0.05), and L/S genotype frequency in the diarrhea predominant group was higher than those in the constipation and control groups.

CONCLUSIONS

No relationship was found between IBS and SERT gene polymorphism. It is conceivable that the presence of the S/S genotype in IBS patients carries an increased risk of the constipation predominant type of IBS, whereas the presence of the 5-HTTLPR allele L/S genotype carries an increased risk of the diarrhea predominant type.

摘要

目的

血清素是肠道蠕动的关键介质,其分泌后,会通过一种名为血清素转运体(SERT)的高亲和力物质从神经间隙中有效清除,该转运体依赖于位于突触前神经元膜中的Na+和Cl-离子。本研究旨在调查肠易激综合征(IBS)患者的SERT多态性。

方法

通过聚合酶链反应对从54例诊断为IBS的患者和91例健康受试者的血清样本中的白细胞获得的DNA链进行SERT基因多态性评估。评估了SERT两个区域(可变数目串联重复序列和SERT基因连锁多态性区域[5-HTTLPR])的多态性。

结果

发现健康受试者和IBS患者的SERT多态性相似(p>0.05)。IBS患者分为三组:腹泻型(n = 18)、便秘型(n = 26)和腹泻便秘交替型(n = 10)。对这些组的基因多态性进行比较,发现便秘型组中5-HTTLPR等位基因S/S基因型的出现频率高于其他两个亚组(p<0.05),腹泻型组中L/S基因型频率高于便秘组和对照组。

结论

未发现IBS与SERT基因多态性之间存在关联。可以想象,IBS患者中S/S基因型的存在会增加便秘型IBS的风险,而5-HTTLPR等位基因L/S基因型的存在会增加腹泻型IBS的风险。

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