The serotonin transporter polymorphism rs25531 is associated with irritable bowel syndrome.

The serotonin transporter polymorphism rs25531 is associated with irritable bowel syndrome.
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DOI:
10.1007/s10620-008-0666-3
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发表时间:
2009-12
影响因子:
3.1
通讯作者:
Heitkemper, Margaret M.
Heitkemper, Margaret M.
中科院分区:
医学3区
文献类型:
--
作者:
Kohen, Ruth;Jarrett, Monica E.;Cain, Kevin C.;Jun, Sang-Eun;Navaja, Grace P.;Symonds, Sarah;Heitkemper, Margaret M.

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肠易激综合征是一种病因不明的常见胃肠道疾病。血清素转运体调节肠道中血清素信号的强度和持续时间,因此是肠易激综合征的一个有吸引力的候选基因。先前关于血清素转运体5-HTTLPR和Stin2 VNTR多态性的研究被证明是不确定的。因此,在这项探索性研究中,我们扩大了对血清素转运体与肠易激综合征可能关联的研究,不仅包括5-HTTLPR和Stin2 VNTR长度多态性,还包括功能单核苷酸多态性rs25531。我们对186例18 ~ 70岁肠易激综合征患者和50例健康对照进行了基因分型。与健康对照相比,携带rs25531罕见G等位基因的人患肠易激综合征的几率增加了约三倍(OR 3.3, 95% CI 1.1-9.6)。我们的研究结果表明,进一步研究血清素转运体在肠易激综合征病因中的可能作用是有必要的。
Irritable bowel syndrome is a frequent gastrointestinal disorder of unknown etiology. The serotonin transporter regulates the intensity and duration of serotonin signaling in the gut and is, therefore, an attractive candidate gene for irritable bowel syndrome. Previous studies investigating the 5-HTTLPR and Stin2 VNTR polymorphisms of the serotonin transporter have proved inconclusive. In this exploratory study we therefore expanded the search for a possible association of the serotonin transporter with irritable bowel syndrome to include not only the 5-HTTLPR and Stin2 VNTR length polymorphisms, but also the functional single nucleotide polymorphism rs25531. We genotyped 186 patients with irritable bowel syndrome and 50 healthy control subjects raging in age from 18 to 70 years. Carriers of the rare G allele of rs25531 had approximately threefold increased odds of irritable bowel syndrome compared with healthy controls (OR 3.3, 95% CI 1.1–9.6). Our findings suggest that further investigation of the possible role of the serotonin transporter in the etiology of IBS is warranted.
DOI: 10.1007/s004390050624
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