Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository.

Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository.
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法国加拿大人炎症性肠病的表型和基因型特征:与大型北美存储库进行比较。

DOI:
10.1038/ajg.2009.267
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发表时间:
2009-09
影响因子:
9.8
通讯作者:
Bitton, Alain
Bitton, Alain
中科院分区:
医学1区
文献类型:
--
作者:
Bhat, Mamatha;Nguyen, Geoffrey C.;Pare, Pierre;Lahaie, Raymond;Deslandres, Colette;Bernard, Edmond-Jean;Aumais, Guy;Jobin, Gilles;Wild, Gary;Cohen, Albert;Langelier, Diane;Brant, Steven;Dassopoulos, Themistocles;McGovern, Dermot;Torres, Esther;Duerr, Richard;Regueiro, Miguel;Silverberg, Mark S.;Steinhart, Hillary;Griffiths, Anne M.;Elkadri, Abdul;Cho, Judy;Proctor, Deborah;Goyette, Philippe;Rioux, John;Bitton, Alain

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炎症性肠病(IBD)的表型特征可能在种族亚群之间存在显著差异。本研究的目的是描述法国-加拿大人IBD表型的特征,法国-加拿大人是北美最突出的创始人人群。使用NIDDK-IBD遗传学联盟IBD患者库中的良好表征的表型数据,我们比较了202名法裔加拿大人与1287名其他白人患者的表型特征。这些包括:诊断,解剖位置,疾病行为,肠外表现,手术史和IBD家族史。法裔加拿大CD患者发生狭窄性疾病的可能性较低(11 vs 21%,P=0.005; OR 0.45,95% CI:0.24- 0.85)。使用严格的种族定义(4名祖父母中有3名是法裔加拿大人,而不是自我报告,n= 148),法裔加拿大人有发生瘘管性CD的倾向(37% vs 28%,p= 0.07),并且法裔加拿大人患有IBD的骶髂炎患病率增加(4% vs 2%,p=0.045)。在法裔加拿大人中,CD患者当前吸烟者(40 vs 25%,p=0.006)和UC患者既往吸烟者(35% vs 20%,p=0.03)的数量显著较高。在法裔加拿大CD患者中,NOD 2三种主要变异SNPs之一的患病率为43.2%。在法裔加拿大人中,3020 insC SNP与小肠疾病相关(75%对0%,P=0.006)。法裔加拿大人表现出与其他高加索人IBD人群不同的IBD表型特征,吸烟状态与IBD之间存在显著关联。这种独特的配置文件可能会影响到需要一种不同的方法来管理IBD在这一人群。
Phenotype characteristics of inflammatory bowel disease (IBD) may differ significantly among ethnic subpopulations. The aim of this study was to characterize the IBD phenotype in French-Canadians, the most prominent founder population in North America. Using well-characterized phenotype data in the NIDDK-IBD Genetics Consortium repository on IBD patients, we compared phenotypic characteristics of 202 French-Canadians to those of 1287 other Caucasian patients. These included: diagnosis, anatomical location, disease behaviour, extraintestinal manifestations, surgical history, and family history of IBD. French-Canadian CD patients were less likely to have stricturing disease (11 vs 21%, P=0.005; OR 0.45, 95% CI: 0.24– 0.85). Using a stringent definition of ethnicity (3 out of 4 grandparents being French-Canadian, as opposed to self-report, n= 148), French-Canadians had a tendency towards developing fistulizing CD (37% vs 28%, p= 0.07), and there was an increased prevalence of sacroiliitis among French-Canadians with IBD (4% vs 2%, p=0.045). Among French-Canadians, the numbers of current smokers in CD (40 vs 25%, p=0.006) and former smokers in UC (35% vs 20%, p=0.03) were significantly higher. The prevalence of one of the three main variant NOD2 SNPs among French-Canadian CD patients was 43.2%. The 3020insC SNP correlated with small bowel disease in French-Canadians (75% versus 0%, P=0.006). French-Canadians exhibit an IBD phenotype profile distinct from other Caucasian IBD populations, with an accentuated association between smoking status and IBD. This unique profile may have implications regarding the need for a different approach to management of IBD in this population.
DOI: 10.1136/gut.2005.082909
发表时间: 2006-06-01
期刊: GUT
影响因子: 24.5
作者:
Satsangi, J.;Silverberg, M. S.;Colombel, J-F
通讯作者: Colombel, J-F
DOI: 10.1073/pnas.0706645104
发表时间: 2007-09-11
影响因子: 11.1
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发表时间: 2003-01-01
影响因子: 2.9
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通讯作者: Chowers, Y
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发表时间: 2002-04-01
影响因子: 9.8
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通讯作者: Hugot, JP
DOI: 10.1002/ibd.20144
发表时间: 2007-08-01
影响因子: 4.9
作者:
Dassopoulos, Themistocles;Nguyen, Geoffrey C.;Steinhart, A. Hillary
通讯作者: Steinhart, A. Hillary