Close
About
FAQ
Home
Collections
Login
USC Login
Register
0
Selected
Invert selection
Deselect all
Deselect all
Click here to refresh results
Click here to refresh results
USC
/
Digital Library
/
University of Southern California Dissertations and Theses
/
Functional characterization of colorectal cancer GWAS loci
(USC Thesis Other)
Functional characterization of colorectal cancer GWAS loci
PDF
Download
Share
Open document
Flip pages
Download a page range
Contact Us
Contact Us
Copy asset link
Request this asset
Abstract (if available)
Abstract
Genome-wide association studies (GWAS) have provided a powerful approach to identify CRC common disease variants. As of June 2012, 18 CRC loci have been identified in European populations. The predicted CRC risk associated with each variant is modest, opening the question how the remaining heritability could be explained. Identification of the true causal variant(s) within each locus is expected to explain part of the missing heritability of this disease and will help in the understanding of CRC genetic etiology. Their identification should also lead to an improvement in surveillance for this disease. Important regulatory elements are located in non-coding parts of the genome. We tested the hypothesis that functional enhancer elements within CRC associated loci contain gene regulatory activity and that a common variant within such regions could lead to the modulation of gene expression of a relevant gene(s). I characterized the enhancer regulatory landscape within the 19q13.1, 15q13.3, and 20q13.33 CRC risk loci using ChIP-seq of H3K4me1 and DNase1 HS data, and identified within chromosome 19q13.1 an enhancer regulatory element where the common variant rs7246814 was implicated as a functional variant. Furthermore, I showed a borderline correlation between rs7246814 and GPATCH1 gene expression level in normal colon epithelial tissues. In this study we provided suggestive evidence for the GPATCH1 gene as a candidate for CRC risk.
Linked assets
University of Southern California Dissertations and Theses
Conceptually similar
PDF
Functional characterization of colon cancer risk-associated enhancers: connecting risk loci to risk genes
PDF
Functional characterization of colon cancer risk enhancers
PDF
Breast epithelial cell type specific enhancers and functional annotation of breast cancer risk loci
PDF
Identification and characterization of cancer-associated enhancers
PDF
Functional characterization of a prostate cancer risk region
PDF
Polygenic analyses of complex traits in complex populations
PDF
Functional analysis of a prostate cancer risk enhancer at 7p15.2
PDF
The relationship between DNA methylation and transcription factor binding in colon cancer cells
PDF
The contribution of arachidonate 5-lipoxygenase to inflammatory response in coronary artery disease
PDF
Genome-wide characterization of the regulatory relationships of cell type-specific enhancer-gene links
PDF
Understanding prostate cancer genetic susceptibility and chromatin regulation
PDF
Post-GWAS methods in large scale studies of breast cancer in African Americans
PDF
The multiethnic nature of chronic disease: studies in the multiethnic cohort
PDF
Application of genetic association methods in mice to understand phenotypes with a complex etiology
PDF
Identification and characterization of the enhancer elements for lymphatic-specific expression of Prox1
PDF
Polygenes and estimated heritability of prostate cancer in an African American sample using genome-wide association study data
PDF
Characterizing synonymous variants by leveraging gene expression and GWAS datasets
PDF
Genomic variant analysis in whole blood of recurrent early-onset major depression patients and differential expression in BA25 of suicide completers with major depression
PDF
Identification and fine-mapping of genetic susceptibility loci for prostate cancer and statistical methodology for multiethnic fine-mapping
PDF
Identification and characterization of post-translational modifications on histones: an on-line top-down mass spectrometry workflow for analysis using ProSight PTM
Asset Metadata
Creator
Mendoza-Fandiño, Gustavo Alfonso
(author)
Core Title
Functional characterization of colorectal cancer GWAS loci
School
Keck School of Medicine
Degree
Doctor of Philosophy
Degree Program
Biochemistry and Molecular Biology
Publication Date
02/19/2013
Defense Date
01/11/2013
Publisher
University of Southern California
(original),
University of Southern California. Libraries
(digital)
Tag
common variant,enhancer elements,functional variant,GWAS,OAI-PMH Harvest
Language
English
Contributor
Electronically uploaded by the author
(provenance)
Advisor
Casey, Graham (
committee chair
), Stallcup, Michael R. (
committee chair
), Tokes, Zoltan A. (
committee chair
), Allayee, Hooman (
committee member
), Coetzee, Gerhard (Gerry) A. (
committee member
)
Creator Email
gustavom@usc.edu
Permanent Link (DOI)
https://doi.org/10.25549/usctheses-c3-220618
Unique identifier
UC11293528
Identifier
usctheses-c3-220618 (legacy record id)
Legacy Identifier
etd-MendozaFan-1441.pdf
Dmrecord
220618
Document Type
Dissertation
Rights
Mendoza-Fandiño, Gustavo Alfonso
Type
texts
Source
University of Southern California
(contributing entity),
University of Southern California Dissertations and Theses
(collection)
Access Conditions
The author retains rights to his/her dissertation, thesis or other graduate work according to U.S. copyright law. Electronic access is being provided by the USC Libraries in agreement with the a...
Repository Name
University of Southern California Digital Library
Repository Location
USC Digital Library, University of Southern California, University Park Campus MC 2810, 3434 South Grand Avenue, 2nd Floor, Los Angeles, California 90089-2810, USA
Tags
common variant
enhancer elements
functional variant
GWAS