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炎症性肠病:遗传学和流行病学考量

Inflammatory bowel disease: genetic and epidemiologic considerations.

作者信息

Cho Judy H

机构信息

Inflammatory Bowel Disease Center, Yale University, 300 Cedar Street, New Haven, CT 06519, USA.

出版信息

World J Gastroenterol. 2008 Jan 21;14(3):338-47. doi: 10.3748/wjg.14.338.

DOI:10.3748/wjg.14.338
PMID:18200657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2679123/
Abstract

Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.

摘要

全基因组关联研究已确凿证实,许多基因组位点与炎症性肠病相关,尤其是在克罗恩病中。这些研究重新确立了白细胞介素23和自噬途径在疾病发病机制中的重要性。未来的挑战包括:(1)确定确切的致病等位基因;(2)明确相关和致病等位基因功能改变的结果;(3)将遗传研究结果与环境因素相结合。

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本文引用的文献

1
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.通过全基因组关联鉴定出的新型克罗恩病基因座定位于5p13.1上的基因荒漠区域,并调控PTGER4的表达。
PLoS Genet. 2007 Apr 20;3(4):e58. doi: 10.1371/journal.pgen.0030058. Epub 2007 Mar 5.
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Smoking and inflammatory bowel disease: trends in familial and sporadic cohorts.吸烟与炎症性肠病:家族性和散发性队列研究趋势
Inflamm Bowel Dis. 2007 May;13(5):573-9. doi: 10.1002/ibd.20043.
3
IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland.白细胞介素23受体基因的精氨酸381谷氨酰胺突变与苏格兰儿童期炎性肠病相关。
Gut. 2007 Aug;56(8):1173-4. doi: 10.1136/gut.2007.122069. Epub 2007 Mar 2.
4
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.针对IBD5与克罗恩病的关联,观察到了精细的基因组定位及种族差异。
Eur J Hum Genet. 2007 Mar;15(3):328-35. doi: 10.1038/sj.ejhg.5201756. Epub 2007 Jan 10.
5
Genetic variation in myosin IXB is associated with ulcerative colitis.肌球蛋白IXB的基因变异与溃疡性结肠炎相关。
Gastroenterology. 2006 Dec;131(6):1768-74. doi: 10.1053/j.gastro.2006.09.011. Epub 2006 Sep 8.
6
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.一项全基因组关联研究将白细胞介素23受体鉴定为炎症性肠病基因。
Science. 2006 Dec 1;314(5804):1461-3. doi: 10.1126/science.1135245. Epub 2006 Oct 26.
7
No association between the functional CARD4 insertion/deletion polymorphism and inflammatory bowel diseases in the German population.在德国人群中,功能性CARD4插入/缺失多态性与炎症性肠病之间无关联。
Gut. 2006 Nov;55(11):1679-80. doi: 10.1136/gut.2006.104646.
8
Interleukin-23 drives innate and T cell-mediated intestinal inflammation.白细胞介素-23引发先天性和T细胞介导的肠道炎症。
J Exp Med. 2006 Oct 30;203(11):2473-83. doi: 10.1084/jem.20061099. Epub 2006 Oct 9.
9
IL-23 plays a key role in Helicobacter hepaticus-induced T cell-dependent colitis.白细胞介素-23在肝螺杆菌诱导的T细胞依赖性结肠炎中起关键作用。
J Exp Med. 2006 Oct 30;203(11):2485-94. doi: 10.1084/jem.20061082. Epub 2006 Oct 9.
10
TUCAN (CARD8) genetic variants and inflammatory bowel disease.TUCAN(CARD8)基因变异与炎症性肠病。
Gastroenterology. 2006 Oct;131(4):1190-6. doi: 10.1053/j.gastro.2006.08.008. Epub 2006 Aug 5.