The role of genetics in IBS.
The role of genetics in IBS.
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DOI：
10.1016/j.gtc.2010.12.011
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发表时间：
2011-03
影响因子：
3.7
通讯作者：
Saito, Yuri A.
中科院分区：
文献类型：
--
作者：
Saito, Yuri A.
IBS是一种常见的疾病，已被证明在家庭中聚集，影响多代人，但不符合孟德尔效应。患有IBS的人的亲属患IBS的可能性是两到三倍，男女都受到影响。估计的遗传易感性在1- 20%之间，遗传力估计在0- 57%之间。虽然鼻胃管放置，营养不良，虐待和其他应激源等儿童事件的作用已明确与IBS相关，但这些因素尚未在家庭中进行研究，并且不太可能完全解释家庭研究中观察到的肠道功能障碍的聚集。此外，IBS的家族聚集性似乎不能用心理特征来解释，这是基于家族研究以及与其他精神疾病相关的功能变体的候选基因研究。迄今为止，在许多候选基因研究中已经研究了来自各种途径的60多个基因中的100多个遗传变异，并报道了几种积极的关联。这些发现表明，IBS及其亚型可能有不同的，以及共享的分子基础。许多新的和验证性的工作仍有待进行，以阐明特定的遗传变异在IBS发展中的作用，以及基因和环境相互作用导致IBS易感性的具体方式。
IBS is a common disorder that has been shown to aggregate in families, to affect multiple generations, but not in a manner consistent with a major Mendelian effect. Relatives of an individual with IBS are two to three times as likely to have IBS, with both genders being affected. The estimated genetic liability ranges between 1–20%, with heritability estimates ranging between 0–57%. Although the role of childhood events such as nasogastric tube placement, poor nutrition, abuse, and other stressors have been clearly associated with IBS, these factors have not been studied in families and are unlikely to completely explain the clustering of bowel dysfunction observed in family studies. Furthermore, the familial clustering of IBS does not appear to be explained by psychological traits, based on family studies as well as candidate gene studies of functional variants associated with other psychiatric disorders. To date, over a hundred genetic variants in over 60 genes from various pathways have been studied in a number of candidate gene studies with several positive associations reported. These findings suggest that there may be distinct, as well as shared, molecular underpinnings for IBS and its subtypes. Much new and confirmatory work remains to be performed to elucidate the role of specific genetic variants in IBS development, as well as the specific ways the genes and environment interact to result in IBS susceptibility.
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影响因子：
29.4
作者：
Camilleri M;Carlson P;Zinsmeister AR;McKinzie S;Busciglio I;Burton D;Zucchelli M;D'Amato M
通讯作者：
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影响因子：
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作者：
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DOI：
10.1152/ajpgi.00371.2007
发表时间：
2008-01-01
影响因子：
4.5
作者：
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通讯作者：
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影响因子：
5.2
作者：
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通讯作者：
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