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.
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.
PLoS Genet. 2007 Apr 20;3(4):e58. doi: 10.1371/journal.pgen.0030058. Epub 2007 Mar 5.
2
Smoking and inflammatory bowel disease: trends in familial and sporadic cohorts.
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.
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.
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.
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.
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.
Gut. 2006 Nov;55(11):1679-80. doi: 10.1136/gut.2006.104646.
8
Interleukin-23 drives innate and T cell-mediated intestinal inflammation.
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.
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.
Gastroenterology. 2006 Oct;131(4):1190-6. doi: 10.1053/j.gastro.2006.08.008. Epub 2006 Aug 5.
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