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Novel susceptibility genes in inflammatory bowel disease

World Journal of Gastroenterology 2006年第13期12卷 1991-1999页

作者： Colin Noble Elaine Nimmo Daniel Gaya Richard K Russell jack satsangi Gastrointestinal Unit Molecular Medicine Centre University of EdinburghWestern General HospitalEdinburghUnited Kingdom

The inflammatory bowel disease, Crohn's disease and ulcerative colitis, are polygenic disorders with important environmental interactions. To date, the most widely adopted approach to identifying susceptibility genes in complex diseases has involved genome wide linkage studies followed by studies of positional candidate genes in loci of interest. This review encompasses data from studies into novel candidate genes implicated in the pathogenesis of inflammatory bowel disease. Novel techniques to identify candidate genes-genome wide association studies, yeast-two hybrid screening, microarray gene expression studies and proteomic profiling, are also reviewed and their potential role in unravelling the pathogenesis of inflammatory bowel disease are discussed.

关键词： Inflammatory bowel disease Crohn's disease Ulcerative colitis Yeast-two hybrid Genomics

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Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity

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World Journal of Gastroenterology 2016年第21期22卷 5050-5059页

作者： Frederik Trier Moller Lina Knudsen Marcus Harbord jack satsangi Hannah Gordon Lene Christiansen Kaare Christensen Tine Jess Vibeke Andersen Research Unit for Molecular Diagnostics Hospital of Southern Jutland Institute of Regional Health Research University of Southern Denmark Division of Epidemiology and Disease Surveillance Statens Serum Institut Department of Gastro-enterology Chelsea and Westminster Hospital Centre for Molecular Medicine University of Edinburgh Western General Hospital Danish Ageing Research Centre Institute of Public Health University of Southern Denmark Department of Clinical Medicine University of Aalborg

AIM: To describe the establishment of a Danish inflammatory bowel diseases (IBD) twin cohort with focus on concordance of treatment and inflammatory ***: We identified MZ twins, likely to be discordant or concordant for IBD, by merging information from the Danish Twin Register and the National Patient Register. The twins were asked to provide biological samples, questionnaires, and data access to patient files and public registries. Biological samples were collected via a mobile laboratory, which allowed for immediate centrifugation, fractionation, and storage of samples. The mean time from collection of samples to storage in the -80 °C mobile freezer was less than one hour. The diagnoses where validated using the Copenhagen diagnostic ***: We identified 159 MZ IBD twin pairs, in a total of 62 (39%) pairs both twins agreed to participate. Of the supposed 62 IBD pairs, the IBD diagnosis could be confirmed in 54 pairs. The cohort included 10 concordant pairs, whereof some were discordant for either treatment or surgery. The 10 concordant pairs, where both pairs suffered from IBD, included eight CD/CD pairs, one UC/UC pair and one UC/IBDU pair. The discordant pairs comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 ***: The presented IBD twin cohorts are an excellent resource for bioinformatics studies with proper adjustment for disease-associated exposures including medication and inflammatory activity in the co-twins.

关键词： Digestive system diseases Inflammatory bowel diseases Crohn’ s disease Ulcerative colitis Epidemiologic studies Twins Biobank

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克罗恩病

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英国医学杂志中文版 2015年第4期18卷 202-210页

作者： Rahul Kalla Nicholas T Ventham jack satsangi Ian D R Arnott 武丽娜 Gastrointestinal Unit Centre for Molecular Medicine Institute ofGenetics and Molecular Medicine WesternGeneral HospitalEdinburgh EH4 2XUUK 北京协和医院消化内科

克罗恩病是一种慢性炎性疾病，可以影响整个胃肠道。该病多见于青年人，但在各个年龄段均可发病。患者常表现为持续性腹泻、腹痛和体重下降。克罗恩病对患者的学习、工作和社会家庭生活等方面可造成广泛的影响。以社区医疗为基础的高质... 详细信息

克罗恩病是一种慢性炎性疾病，可以影响整个胃肠道。该病多见于青年人，但在各个年龄段均可发病。患者常表现为持续性腹泻、腹痛和体重下降。克罗恩病对患者的学习、工作和社会家庭生活等方面可造成广泛的影响。以社区医疗为基础的高质量多元化诊疗模式，可以减少病情复发，预防长期并发症，提高患者生活质量。本综述为克罗恩病患者的诊断、治疗及长期照护提供了一套实用方案。

关键词：克罗恩病慢性炎性疾病胃肠道治疗方法

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