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Publication Detail
Dissecting the genetics of Inflammatory Bowel Disease
  • Publication Type:
    Thesis/Dissertation
  • Authors:
    Elding H
  • Date awarded:
    05/03/2015
  • Pagination:
    1, 305
  • Supervisors:
    Maniatis N,Swallow DM
  • Status:
    Unpublished
  • Awarding institution:
    University College London
  • Language:
    English
  • Date Submitted:
    09/01/2015
  • Addresses:
    University College London
    Research Dept. of Genetics, Evolution anf Environment
    Gower Street
    London
    WC1E 6BT
    United Kingdom
  • Notes:
    Part-published: Chapters II and III are published in the American Journal of Human Genetics: http://dx.doi.org/10.1016/j.ajhg.2011.11.006 http://dx.doi.org/10.1016/j.ajhg.2012.11.004
Abstract
Inflammatory Bowel Disease (IBD) can be classified into two main subtypes: Crohn’s Disease (CD) and Ulcerative Colitis (UC). The aim of this study is to identify the genetic contribution to the susceptibility to IBD. In the first part of the study, I focused on Crohn’s Disease, the subtype that shows the greatest heritability. Using both pooled and sub-phenotype data, followed by replication, the results reveal substantial genetic heterogeneity and the total number of confirmed CD susceptibility loci was increased from 71 published by others to 200. This was achieved by analyzing the data using a multimarker approach and high-resolution genetic maps in Linkage Disequilibrium Units. In the second part of the study, I focused on Ulcerative Colitis. The results show that although UC has a lower reported heritability, many loci were also found for Ulcerative Colitis. Some of these overlap with those found for Crohn’s Disease.
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