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土耳其肠易激综合征患者的α-2-肾上腺素能受体基因多态性

Alpha-2-adrenergic receptor gene polymorphism in Turkish population with irritable bowel syndrome.

作者信息

Uğur Kantar Funda, Simşek İlkay, Ercal Derya, Ülgenalp Ayfer, Bora Elçin

机构信息

Dokuz Eylul University School of Medicine, Department of Gastroenterology, İzmir, Turkey.

出版信息

Turk J Gastroenterol. 2013;24(6):483-8.

Abstract

BACKGROUND/AIMS: Irritable bowel syndrome is a multifactorial functional gastrointestinal disorder affecting more than 10% of world population. Genetic component in pathophysiology of irritable bowel syndrome is still unknown. The aim of this study was to examine the potential impact of C-1291G polymorphism in α2-adrenergic receptor gene promoter region in the etiology of the disease.

MATERIALS AND METHOD

This prospective case-control study included 100 irritable bowel syndrome patients and 100 healthy controls adjusted for sex and age. The subjects were genotyped by using polymerase chain reaction amplification of the promoterregion of α2-adrenergic receptor gene. Allele and genotype frequencies were compared in patient and control groups. The study was approved by the University ethics committee.

RESULTS

The frequency of C allele was 72% and 75%, G allele was 28% and 25% in patient and control groups, respectively (p>0.05). We found that the frequencies of C1291C, C1291G, and G1291G genotypes were 50, 44, and 6%, respectively, in the patient group and 51, 48, and 1%, respectively, in the control group (p>0.05). The subgroup analysis of patients revealed that 70 patients were constipation-predominant, 27 patients were alternating diarrhea and constipation, and 3 patients were diarrhea-predominant irritable bowel syndrome.

CONCLUSION

No significant association was observed between α2-adrenergic receptor gene C-1291G polymorphism and irritable bowel syndrome in Turkish population. The high number of constipation predominant irritable bowel syndrome and very low number of diarrhea predominant irritable bowel syndrome patients might be the reason for statistical non-significance since α2-adrenergic receptor gene is found to be responsible for mediating intestinal antisecretory action and probably is involved in the pathogenesis of diarrhea predominant irritable bowel syndrome. Further investigations are needed.

摘要

背景/目的:肠易激综合征是一种多因素功能性胃肠疾病,影响着全球超过10%的人口。肠易激综合征病理生理学中的遗传因素仍不清楚。本研究的目的是探讨α2 - 肾上腺素能受体基因启动子区域C-1291G多态性在该疾病病因学中的潜在影响。

材料与方法

这项前瞻性病例对照研究纳入了100例肠易激综合征患者和100例按性别和年龄匹配的健康对照。通过聚合酶链反应扩增α2 - 肾上腺素能受体基因的启动子区域对受试者进行基因分型。比较患者组和对照组的等位基因和基因型频率。该研究获得了大学伦理委员会的批准。

结果

患者组中C等位基因频率为72%,G等位基因频率为28%;对照组中C等位基因频率为75%,G等位基因频率为25%(p>0.05)。我们发现患者组中C1291C、C1291G和G1291G基因型频率分别为50%、44%和6%,对照组中分别为51%、48%和1%(p>0.05)。对患者的亚组分析显示,70例患者以便秘为主,27例患者腹泻与便秘交替,3例患者以腹泻为主的肠易激综合征。

结论

在土耳其人群中,未观察到α2 - 肾上腺素能受体基因C-1291G多态性与肠易激综合征之间存在显著关联。以便秘为主的肠易激综合征患者数量较多,而以腹泻为主的肠易激综合征患者数量极少,这可能是导致统计学上无显著性差异的原因,因为α2 - 肾上腺素能受体基因被认为介导肠道抗分泌作用,可能参与以腹泻为主的肠易激综合征的发病机制。需要进一步研究。

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