Park J M, Choi M-G, Park J-A, Oh J H, Cho Y K, Lee I S, Kim S W, Choi K Y, Chung I-S
Division of Gastroenterology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Neurogastroenterol Motil. 2006 Nov;18(11):995-1000. doi: 10.1111/j.1365-2982.2006.00829.x.
Polymorphisms in the promoter region of the serotonin reuptake transporter (SERT) gene may underlie the disturbance in gut function in patients with irritable bowel syndrome (IBS). Association studies of SERT polymorphisms and IBS have shown diverse results among different countries, which might be due to racial and subject composition differences. The aim of this study was to assess the potential association between SERT polymorphisms and IBS in Koreans. A total of 190 IBS patients, who met the Rome II criteria, and 437 healthy controls were subjected to genotyping. SERT polymorphisms differed in the IBS and control groups (P = 0.014). The SERT deletion/deletion genotype occurred with greater frequency in the diarrhoea-predominant IBS group than in the controls. A strong genotypic association was observed between the SERT deletion/deletion genotype and diarrhoea-predominant IBS (P = 0.012). None of the clinical symptoms analysed was significantly associated with the SERT genotypes. The frequency of the SERT insertion/insertion genotype was much lower than that of the other two genotypes. A significant association was observed between the SERT polymorphism and IBS, especially diarrhoea-predominant IBS, suggesting that the SERT gene is a potential candidate gene involved in IBS in Korea.
血清素再摄取转运体（SERT）基因启动子区域的多态性可能是肠易激综合征（IBS）患者肠道功能紊乱的潜在原因。SERT多态性与IBS的关联研究在不同国家显示出不同的结果，这可能是由于种族和研究对象构成的差异。本研究的目的是评估韩国人群中SERT多态性与IBS之间的潜在关联。对190例符合罗马II标准的IBS患者和437例健康对照进行基因分型。IBS组和对照组的SERT多态性存在差异（P = 0.014）。SERT缺失/缺失基因型在腹泻型IBS组中的出现频率高于对照组。在SERT缺失/缺失基因型与腹泻型IBS之间观察到强烈的基因型关联（P = 0.012）。所分析的临床症状均与SERT基因型无显著关联。SERT插入/插入基因型的频率远低于其他两种基因型。观察到SERT多态性与IBS之间存在显著关联，尤其是腹泻型IBS，这表明SERT基因是韩国IBS潜在的候选基因。
