A common genetic background could explain early-onset Crohn's disease

A common genetic background could explain early-onset Crohn's disease
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DOI:
10.1016/j.mehy.2012.01.023
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发表时间:
2012-04-01
期刊:
影响因子:
4.7
通讯作者:
Crovella, Sergio
Crovella, Sergio
中科院分区:
医学4区
文献类型:
--
作者:
Bianco, Anna Monica;Zanin, Valentina;Crovella, Sergio

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克罗恩病(CD)是一种多因素疾病,环境、微生物和遗传因素在其中起重要作用。乳糜泻以慢性肉芽肿性炎症为特征,伴有全壁坏死瘢痕。尽管主要影响年轻人,但有时,乳糜泻可以出现在生命的第一年(早发性克罗恩病,EOCD),表现出不可预测的病程,通常比老年人更严重。在本文中,我们提出了一个假设,即EOCD患者应该使用孟德尔方法和家庭研究来分析,旨在确定与早发性克罗恩病直接相关的新基因位点。因此,我们将放弃迄今为止用于鉴定CD易感性基因的经典关联研究方法,并提出连锁家族分析作为鉴定与熟悉的EOCD病例相关的新遗传变异的替代和强大工具。(C) 2012 Elsevier Ltd.版权所有。
Crohn's disease (CD) is a multifactorial disease, in which environmental, microbial and genetic factors play important roles. CD is characterized by a chronic granulomatous inflammation by necrotic scarring with aspects of full-thickness wall.In spite of affecting mainly young adults, sometimes, CD can be present in the first year of life (early onset Crohn disease, EOCD) showing an unpredictable course and being often more severe than at older ages.In this paper we propose the hypothesis that EOCD patients should be analyzed using a Mendelian approach with family studies aimed to identify new loci directly involved in the early onset Crohn's disease. So we will leave the classic association study approach used until now for the identification of genes responsible for susceptibility to CD and propose linkage family analysis as alternative and powerful tool for the identification of new genetic variants associated with familiar cases of EOCD. (C) 2012 Elsevier Ltd. All rights reserved.