Associations between NOD2/CARD15 genotype andphenotype in Crohn’s disease-Are we there yet?

查看全文 作　　者：Graham Radford-[1]Smith;Nirmala [2]Pandeya

机构地区：[1]IBD Unit, Department of Gastroenter-ology, Royal Brisbane and Womens Hospital, Brisbane, Queensland 4029, Australia;[2]Cancer and Population studies group, Queensland Institute of Medical Research, Brisbane, Australia

出　　处：《World Journal of Gastroenterology》索引2006年第12卷第44期,共7页

摘　　要：There have been multiple NOD2/CARD15 genotype- phenotype analyses undertaken in patients with Crohn’s disease since the gene’s discovery in 2001. This review focuses on the major published series based upon their size and on the presence of specific clinical and genetic information provided in the published material from 2001 to 2005. Twelve studies provided raw data to carry out comparisons of disease location while ten studies included analysis of NOD2/CARD15 genotypes. NOD2/CARD15 variant frequency in ileal disease did not differ significantly among studies, whereas a comparison of disease location demonstrated highly significant differences among studies. Meta-analysis confirmed significant associations between NOD2/CARD15 variants and both ileal and ileocolonic disease locations, and with both stricturing and penetrating forms of disease behavior. This review underlines the significant phenotypic differences that exist among populations, including similar ethnic groups, and has demonstrated the need for further studies of patients with long-term “inflammatory” Crohn’s disease. 关键词：CROHN病 NOD2/CARD15 遗传性疾病显性遗传疾病定位

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Associations between NOD2/CARD15 genotype andphenotype in Crohn’s disease-Are we there yet?

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