Xinjun Cindy Zhu M.D., Richard P. MacDermott M.D. (auth.),'s Molecular Genetics of Inflammatory Bowel Disease PDF

By Xinjun Cindy Zhu M.D., Richard P. MacDermott M.D. (auth.), Mauro D'Amato, John D Rioux (eds.)

ISBN-10: 1461482550

ISBN-13: 9781461482550

ISBN-10: 1461482569

ISBN-13: 9781461482567

Research in Crohn’s illness (CD) and ulcerative colitis (UC), jointly often called the inflammatory bowel illnesses (IBD), has actually visible a revolution within the final 5-10 years. This publication examines how those genetic discoveries have resulted in the id of organic services now not formerly linked to IBD pathophysiology (e.g. autophagy), how a number of genetic threat elements for IBD converge on given organic services and that jointly the pointed out versions in those genes have predisposing and protecting roles (e.g. the a number of versions within the receptor for the IL23 cytokine and its signaling cascade), and the way having this kind of huge variety of recognized genetic threat components has replaced our figuring out not just in regards to the genetic and molecular overlap among CD and UC, but in addition among those illnesses and different persistent inflammatory ailments (e.g. psoriasis, a number of sclerosis, sort 1 diabetes and lots of others).

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J. D. se M. D. 1007/978-1-4614-8256-7_2, © Springer Science+Business Media New York 2013 23 24 J. Halfvarson There has been great progress within the field of molecular genetics in inflammatory bowel disease (IBD). The influence of genetics in the etiology of IBD was initially supported by epidemiological data, including differences in prevalence among different ethnic groups, familial aggregation of IBD, concordance in twins, and association with genetic syndromes. These early epidemiological findings, and especially the observed concordance within twin pairs, were the major triggers that commenced the successful era of molecular genetics in IBD.

In general, a high degree of clinical similarities of IBD has been observed within multiplex families, and data are especially striking for Crohn’s disease. Bayless et al. observed concordance rates of 86 % for location of inflammation and 82 % for disease behavior in a group of 133 patients with Crohn’s disease within 60 families [44]. In a family study from Oxford, 76 % of siblings were concordant for disease extent and 84 % for extraintestinal manifestations [74]. The phenotypes were less similar in parent–child pairs than within sibling pairs.

By adjusting the analysis to include patients who were at least 40 years of age at the time of study entry and had the diagnosis before the age of 40 years, the intergeneration difference in age of diagnosis was reduced from >10 years to around 1 year [87, 91]. Twin Studies Twin studies provide a powerful tool to disentangle the relative contribution of genetics and environmental factors to the etiology of complex diseases like IBD. Monozygotic twins are genetically identical and share the intrauterine environment and, to a high extent, but necessarily not all, external factors during childhood.

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Molecular Genetics of Inflammatory Bowel Disease by Xinjun Cindy Zhu M.D., Richard P. MacDermott M.D. (auth.), Mauro D'Amato, John D Rioux (eds.)


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