Genetic epidemiology of irritable bowel syndrome
Genetic epidemiology of irritable bowel syndrome
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DOI：
10.3748/wjg.v21.i40.11353
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发表时间：
2015-10-28
影响因子：
4.3
通讯作者：
Bella, Jonathan N.
中科院分区：
文献类型：
--
作者：
Makker, Jasbir;Chilimuri, Sridhar;Bella, Jonathan N.
肠易激综合症（IBS）是最常见的功能性胃肠道疾病，其特征是出现与排便习惯改变相关的腹痛或不适。它具有三种主要亚型：便秘为主的 IBS (C-IBS)、腹泻为主的 IBS (D-IBS) 以及腹泻和便秘混合特征的 IBS (M-IBS)。其病理生理学和潜在机制仍然难以捉摸。传统上认为IBS是多种因素造成的，包括肠道过敏、肠道蠕动改变、炎症和压力。初步研究表明 IBS 具有家族聚集性，这表明存在共同的遗传或环境因素。世界不同地区对 IBS 的双胞胎研究表明，同卵双胞胎的一致性率高于异卵双胞胎，因此表明这种疾病有遗传因素。多项研究试图将单核苷酸多态性 (SNP) 与 IBS 联系起来，但几乎没有证据表明这些 SNP 具有功能。研究人员对各种分子进行了研究和调查。血清素是一种已知的神经递质和肠神经系统中的局部激素，已被广泛研究。目前，与IBS相关的潜在基因途径、基因和功能变异仍然未知，基因决定的风险预测和个性化医疗的承诺仍未实现。然而，分子生物学技术持续快速发展，基因研究为 IBS 的干预、治疗和预防提供了广阔的前景。
Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder characterized by presence of abdominal pain or discomfort associated with altered bowel habits. It has three main subtypes - constipation predominant IBS (C-IBS), diarrhea predominant IBS (D-IBS) and IBS with mixed features of both diarrhea as well as constipation (M-IBS). Its pathophysiology and underlying mechanisms remain elusive. It is traditionally believed that IBS is a result of multiple factors including hypersensitivity of the bowel, altered bowel motility, inflammation and stress. Initial studies have shown familial aggregation of IBS suggesting shared genetic or environmental factors. Twin studies of IBS from different parts of world have shown higher concordance rates among monozygotic twins than dizygotic twins, and thus suggesting a genetic component to this disorder. Multiple studies have tried to link single-nucleotide polymorphisms (SNPs) to IBS but there is little evidence that these SNPs are functional. Various molecules have been studied and investigated by the researchers. Serotonin, a known neurotransmitter and a local hormone in the enteric nervous system, has been most extensively explored. At this time, the underlying gene pathways, genes and functional variants linked with IBS remain unknown and the promise of genetically-determined risk prediction and personalize medicine remain unfulfilled. However, molecular biological technologies continue to evolve rapidly and genetic investigations offer much promise in the intervention, treatment and prevention of IBS.