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BMC Med Genet. 2010 Jun 10;11:91. doi: 10.1186/1471-2350-11-91.
2
NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease.NOD2/CARD15、ATG16L1 和 IL23R 基因多态性与儿童克罗恩病发病的关系。
World J Gastroenterol. 2010 Apr 14;16(14):1753-8. doi: 10.3748/wjg.v16.i14.1753.
3
NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.NOD2、IL23R 和 ATG16L1 多态性与立陶宛炎症性肠病患者的相关性。
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4
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5
Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease.Toll样受体9多态性与NOD2和IL23R变异之间的上位性调节克罗恩病易感性。
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6
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World J Gastroenterol. 2008 Jan 21;14(3):338-47. doi: 10.3748/wjg.14.338.
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CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.CARD15和IL23R影响巴西人群中克罗恩病的易感性,但不影响疾病表型。
Inflamm Bowel Dis. 2008 May;14(5):674-9. doi: 10.1002/ibd.20372.

ATG16L、NOD2 和 IL23R 在克罗恩病发病机制中的作用。

Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis.

机构信息

Department of Molecular Biology and Microbiology, Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL 32816, USA.

出版信息

World J Gastroenterol. 2012 Feb 7;18(5):412-24. doi: 10.3748/wjg.v18.i5.412.

DOI:10.3748/wjg.v18.i5.412
PMID:22346247
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3270503/
Abstract

Inflammatory bowel disease is a group of diseases that includes Crohn's disease (CD) and ulcerative colitis. CD is characterized as a chronic inflammatory disease of the gastrointestinal tract, ranging from the mouth to the anus. Although there are gross pathological and histological similarities between CD and Johne's disease of cattle, the cause of CD remains controversial. It is vital to understand fully the cause of this disease because it affects approximately 500,000 people in North America and Europe. It ranges from 27 to 48 cases per 100,000 people. There are many theories on the cause of CD ranging from possible association with environmental factors including microorganisms to imbalance in the intestinal normal flora of the patients. Regardless of the environmental trigger, there is strong evidence that a genetic disposition is a major key in acquiring CD. Many studies have proven the link between mutations in the ATG16L, NOD2/CARD15, IBD5, CTLA4, TNFSF15 and IL23R genes, and CD. The purpose of this review is to examine all genetic aspects and theories of CD, including up to date multiple population studies performed worldwide.

摘要

炎症性肠病是一组疾病,包括克罗恩病(CD)和溃疡性结肠炎。CD 是一种胃肠道的慢性炎症性疾病,范围从口腔到肛门。虽然 CD 和牛的 Johne 病在大体病理和组织学上有相似之处,但 CD 的病因仍存在争议。充分了解这种疾病的病因至关重要,因为它影响了北美和欧洲约 50 万人。其发病率为每 10 万人 27 至 48 例。关于 CD 的病因有许多理论,从可能与环境因素(包括微生物)有关到患者肠道正常菌群失衡不等。无论环境触发因素如何,都有强有力的证据表明遗传倾向是获得 CD 的主要关键。许多研究已经证明了 ATG16L、NOD2/CARD15、IBD5、CTLA4、TNFSF15 和 IL23R 基因突变与 CD 之间的联系。本综述的目的是检查 CD 的所有遗传方面和理论,包括全球范围内进行的最新多人群研究。