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Permanent link (DOI): https://doi.org/10.7939/R39C6S857

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Identification of Shared and Distinct Gene-disease Associations Among Multiple Related Diseases and Multiple Subtypes of a Disease Open Access

Descriptions

Other title
Subject/Keyword
Crohn's Disease
Loci
GWAS
SNP
Type I Diabetes
Logic Regression
Tuberculosis
Rheumatoid Arthritis
Type of item
Thesis
Degree grantor
University of Alberta
Author or creator
Franco-Villalobos, Conrado
Supervisor and department
Yasui, Yutaka (School of Public Health)
Examining committee member and department
Yasui, Yutaka (School of Public Health)
Dinu, Irina (School of Public Health)
Jeon, Byeonghwa (School of Public Health)
Department
School of Public Health Sciences
Specialization
Epidemiology
Date accepted
2013-09-26T14:39:13Z
Graduation date
2013-11
Degree
Master of Science
Degree level
Master's
Abstract
Genome-wide association study (GWAS) is an approach with high-throughput genotyping to uncover genetic susceptibilities of complex diseases. However, the genetic susceptibilities discovered usually carry very small risk increments. Additionally, the current approach to assess whether these genetic associations are shared among a group of diseases relies mainly on statistical significance alone, ignoring biologically relevant information such as magnitude and direction of the associations. The methodology proposed takes into account not only strength and direction of the associations but also the resemblance of the biological mechanism by using logic regression to generate a graphical representation of the similarity of the associations. We found evidence that 149 genetic associations have certain degree of uniqueness with Crohn's Disease, Rheumatoid Arthritis, and Type I Diabetes while 11 were shared between at least 2 diseases. Additionally, the gene-level analysis of TB cases stratified by age, strain, and lineage identified 3 new susceptibility genes (ZFHX1B, FER, and FAM77) associated with different TB subgroups.
Language
English
DOI
doi:10.7939/R39C6S857
Rights
Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of these terms. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
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