Lee Dok Yong, Park Hyojin, Kim Won Ho, Lee Sang In, Seo Youn Ju, Choi Young Chul
Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Korean J Gastroenterol. 2004 Jan;43(1):18-22.
BACKGROUND/AIMS: Serotonin is thought to be an important neurotransmitter in the pathogenesis of irritable bowel syndrome (IBS). It is reported that functional polymorphism in the promotor region of the serotonin transporter gene is related with the subtypes of IBS and shows racial difference. However, a functional relation between polymorphism and IBS is not clear. The aim of this study was to investigate 5-hydroxytryptamine transporter (5-HTT) gene polymorphism in patients with IBS.
For fifty-six healthy controls and 33 patients with IBS fulfilling Rome II criteria, 5'-flank promotor region of 5-HTT gene was analyzed by polymerase chain reaction.
The genotypes of healthy controls were S/S (57.1%), S/L (37.5%), and L/L (5.4%). Those of IBS patients were S/S (54.5%), S/L (36.4%), and L/L (9.1%). IBS patients were divided into three groups: diarrhea predominant (n=15; S/S, 40%; S/L, 53.3%; L/L, 6.7%), constipation predominant (n=12; S/S, 75.0%; S/L, 8.3%; L/L, 16.7%), diarrhea-constipation alternating type (n=6; S/S, 50%; S/L, 50%). There was no statistical difference in the 5-HTT gene polymorphism between patients and controls, and according to the subtypes of IBS patients (p=0.135).
There was no relationship between serotonin transporter gene polymorphism and IBS. However, allele S/S genotype was most prominent genotype in both controls and patients.
背景/目的:血清素被认为是肠易激综合征(IBS)发病机制中的一种重要神经递质。据报道,血清素转运体基因启动子区域的功能多态性与IBS的亚型有关,并存在种族差异。然而,多态性与IBS之间的功能关系尚不清楚。本研究的目的是调查IBS患者中5-羟色胺转运体(5-HTT)基因的多态性。
对56名健康对照者和33名符合罗马II标准的IBS患者,采用聚合酶链反应分析5-HTT基因的5'-侧翼启动子区域。
健康对照者的基因型为S/S(57.1%)、S/L(37.5%)和L/L(5.4%)。IBS患者的基因型为S/S(54.5%)、S/L(36.4%)和L/L(9.1%)。IBS患者分为三组:腹泻型(n = 15;S/S,40%;S/L,53.3%;L/L,6.7%)、便秘型(n = 12;S/S,75.0%;S/L,8.3%;L/L,16.7%)、腹泻-便秘交替型(n = 6;S/S,50%;S/L,50%)。患者与对照者之间以及根据IBS患者的亚型,5-HTT基因多态性均无统计学差异(p = 0.135)。
血清素转运体基因多态性与IBS之间无相关性。然而,等位基因S/S基因型在对照者和患者中均为最主要的基因型。