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炎症性肠病的遗传负担:对临床有何影响?

The genetic burden of inflammatory bowel diseases: implications for the clinic?

作者信息

Gabbani Tommaso, Deiana Simona, Annese Antonio Luca, Lunardi Sarah, Annese Vito

机构信息

a Division of Gastroenterology , AOU Careggi University Hospital , Florence , Italy.

b Division of Internal Medicine 4 , AOU Careggi University Hospital , Florence , Italy.

出版信息

Expert Rev Gastroenterol Hepatol. 2016 Oct;10(10):1109-1117. doi: 10.1080/17474124.2016.1196131. Epub 2016 Jun 9.


DOI:10.1080/17474124.2016.1196131
PMID:27258545
Abstract

Inflammatory bowel diseases (IBD), which include Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic intestinal inflammation. Their etiology is multifactorial, with complex interactions between genetic and environmental factors, which are still largely unclear. Areas covered: The influence of genetics is clearly demonstrated by important epidemiological data, including familial aggregation and concordance in twins. In 2001, the first genetic susceptibility gene for IBD, the NOD2 gene, was identified. Currently, thanks to genetic wide association studies, over 200 susceptibility genetic markers are know. Expert commentary: However, clinically highly relevant gene associations are still very limited and the usefulness of these information in the current clinical strategies for treatment and surveillance of IBD is weak. Nevertheless, the recent identification of some genetic risk variants has clarified some newbiological pathways of these diseases thus paving the way for the discoveries in the near future of new targeted therapies.

摘要

炎症性肠病(IBD)包括克罗恩病(CD)和溃疡性结肠炎(UC),其特征为慢性肠道炎症。其病因是多因素的,遗传因素和环境因素之间存在复杂的相互作用,而这些相互作用在很大程度上仍不清楚。涵盖领域:重要的流行病学数据,包括家族聚集性和双胞胎的一致性,清楚地证明了遗传因素的影响。2001年,IBD的首个遗传易感性基因——NOD2基因被确定。目前,由于全基因组关联研究,已知超过200个易感性遗传标记。专家评论:然而,临床上高度相关的基因关联仍然非常有限,这些信息在当前IBD治疗和监测临床策略中的实用性较弱。尽管如此,最近一些遗传风险变异的确定阐明了这些疾病的一些新生物学途径,从而为在不久的将来发现新的靶向治疗方法铺平了道路。

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The genetic burden of inflammatory bowel diseases: implications for the clinic?

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[2]
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[3]
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[6]
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[7]
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[8]
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[10]
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[3]
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[4]
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