Department of Gastroenterology, Larnaca General Hospital, Larnaca, Cyprus.
Department of Basic Medical Science, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Digestion. 2021;102(3):313-318. doi: 10.1159/000506306. Epub 2020 Apr 15.
INTRODUCTION/OBJECTIVE: Irritable bowel syndrome (IBS) is a bowel disorder characterized by pain accompanying defecation or altered bowel habits, divided into diarrhea-predominant, constipation-predominant, and alternating subtypes, whose pathogenesis is considered to include disordered bowel motility. The hormone ghrelin is a growth hormone secretagogue which furthermore affects gastrointestinal motility. We study the association between its genetic polymorphisms and the risk for IBS.
IBS patients meeting the Rome III criteria and controls similar in age and gender were recruited. Whole blood samples were used for genotyping via polymerase chain reaction and restriction fragment length polymorphism for the polymorphisms rs34911341, rs696217, and rs2075356.
Participants included 142 patients and 209 controls. The rs696217 GG genotype frequency was higher in patients (78.87%) compared to controls (55.5%). The rs696217 GT genotype was significantly less frequent among patients than in controls (OR 0.31, 95% CI 0.19-0.52), as was the T allele (OR 0.43, 95% CI 0.28-0.66). No significant differences in genotype distribution were found for the rs34911341 and rs2075356 polymorphisms between patients and controls. The genotype frequencies did not significantly differ between IBS subtype groups for any of the polymorphisms studied.
The GG and GT genotypes of the rs696217 polymorphism, as well as the G-allele, demonstrate significant association with IBS susceptibility, while the T allele appears to bear a protective effect. Ghrelin's polymorphisms are plausibly involved in IBS pathogenesis, but do not correlate with any distinct IBS subtype.
简介/目的:肠易激综合征(IBS)是一种以腹痛伴排便习惯改变或排便异常为特征的肠道疾病,可分为腹泻型、便秘型和交替型,其发病机制被认为包括肠道运动障碍。激素 ghrelin 是一种生长激素释放肽,也影响胃肠道动力。我们研究其遗传多态性与 IBS 风险之间的关系。
招募符合 Rome III 标准的 IBS 患者和年龄、性别相似的对照组。使用聚合酶链反应和限制性片段长度多态性对 rs34911341、rs696217 和 rs2075356 三种基因多态性进行全血样本基因分型。
纳入 142 例患者和 209 例对照。患者 rs696217 GG 基因型频率(78.87%)明显高于对照组(55.5%)。与对照组相比,患者 rs696217 GT 基因型频率明显降低(OR 0.31,95%CI 0.19-0.52),T 等位基因频率亦降低(OR 0.43,95%CI 0.28-0.66)。rs34911341 和 rs2075356 多态性在患者和对照组之间的基因型分布无显著差异。在所研究的多态性中,任何一种多态性在 IBS 亚型组之间的基因型频率均无显著差异。
rs696217 多态性的 GG 和 GT 基因型以及 G 等位基因与 IBS 易感性显著相关,而 T 等位基因可能具有保护作用。ghrelin 多态性可能与 IBS 发病机制有关,但与任何特定的 IBS 亚型无关。