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炎症性肠病的遗传学方面:我们已经取得了多大进展,又将走向何方?

Genetic aspects of inflammatory bowel disease: how far have we come, and where are we heading?

作者信息

Cho J

机构信息

Emma Getz Inflammatory Bowel Disease Research Center, Department of Medicine, Gastroenterology Section, The University of Chicago, 5841 South Maryland Avenue, G705, MC 6084, Chicago, IL 60637-1521, USA.

出版信息

Curr Gastroenterol Rep. 1999 Dec;1(6):491-5. doi: 10.1007/s11894-999-0009-3.

Abstract

Crohn"s disease and ulcerative colitis are related complex genetic disorders, with gene-gene and gene-environment interactions that are critical to their pathogenesis. Multiple genetic loci have been implicated through genome-wide searches. Of these, a locus on Crohn"s disease has been definitively established in the pericentromeric region of chromosome 16. Multiple candidate gene studies have been forwarded, and functionally significant variants in immune-associated genes will provide additional insight. Characterization of the genetic variation responsible for causing inflammatory bowel disease will result in development of novel therapeutic approaches as well as in tailoring of specific therapies to individual patients based on their specific molecular pathogenesis.

摘要

克罗恩病和溃疡性结肠炎是相关的复杂遗传性疾病,其基因与基因、基因与环境的相互作用对发病机制至关重要。通过全基因组搜索已发现多个基因位点。其中,16号染色体着丝粒周围区域的一个克罗恩病基因位点已得到明确确认。多项候选基因研究已经展开,免疫相关基因中具有功能意义的变异将提供更多线索。对导致炎症性肠病的基因变异进行特征分析,将有助于开发新的治疗方法,并根据个体患者的特定分子发病机制为其量身定制具体治疗方案。

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