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ASSOCIATION TESTING OF POLYMORPHISMS IN THE VITAMIN D METABOLISM AND SIGNALING PATHWAY WITH MULTIPLE SCLEROSIS ACROSS MULTIPLE POPULATIONS
by
Jenn Rong Chiam
A Thesis Presented to the
FACULTY OF THE USC GRADUATE SCHOOL
UNIVERSITY OF SOUTHERN CALIFORNIA
In Partial Fulfillment of the
Requirements for the Degree
MASTER OF SCIENCE
(BIOSTATISTICS)
August 2012
Copyright 2012 Jenn Rong Chiam
Object Description
| Title | Association testing of polymorphisms in the vitamin D metabolism and signaling pathway with multiple sclerosis across multiple populatuions |
| Author | Chiam, Jenn Rong |
| Author email | chiam@usc.edu;jamfrizz@hotmail.com |
| Degree | Master of Science |
| Document type | Thesis |
| Degree program | Biostatistics |
| School | Keck School of Medicine |
| Date defended/completed | 2012-05-05 |
| Date submitted | 2012-05-23 |
| Date approved | 2012-05-24 |
| Restricted until | 2012-05-24 |
| Date published | 2012-05-24 |
| Advisor (committee chair) | Mack, Thomas M. |
| Advisor (committee member) |
Gauderman, William James Islam, Talat |
| Abstract | Vitamin D is an environmental factor known to protect against multiple sclerosis (MS). Furthermore, it has also been shown to influence activities of immunological genes such as the HLA-DRB1*1501, which have found to be associated with this autoimmune disease. Genes controlling the metabolism and signaling functions of vitamin D are also likely to be MS susceptibility regions. ❧ In this thesis, we examined the association between nine genes of the vitamin D pathway and MS. The functional relevance of significantly identified single nucleotide polymorphisms (SNPs) as they contribute to MS was also explored. After conducting a meta-analysis, we found rs928329 from CYP27B1 to be significantly associated with MS (meta p < 0.0002) while all other vitamin D genes did not yield significant associations. ❧ Significant interactions between RXRB and HLA-DRB1*1501 identified in this thesis indicate the importance of complex gene-gene interaction in MS. Given the importance of vitamin D as an immune-regulator and the important role of immunity in MS, future investigation of interaction between vitamin D and other immune-related genes will likely reveal important biological mechanisms that cause MS. |
| Keyword | multiple sclerosis; vitamin d genes; CYP27B1; |
| Language | English |
| Part of collection | University of Southern California dissertations and theses |
| Publisher (of the original version) | University of Southern California |
| Place of publication (of the original version) | Los Angeles, California |
| Publisher (of the digital version) | University of Southern California. Libraries |
| Provenance | Electronically uploaded by the author |
| Type | texts |
| Legacy record ID | usctheses-m |
| Contributing entity | University of Southern California |
| Rights | Chiam, Jenn Rong |
| Physical access | 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 author, as the original true and official version of the work, but does not grant the reader permission to use the work if the desired use is covered by copyright. It is the author, as rights holder, who must provide use permission if such use is covered by copyright. The original signature page accompanying the original submission of the work to the USC Libraries is retained by the USC Libraries and a copy of it may be obtained by authorized requesters contacting the repository e-mail address given. |
| Repository name | University of Southern California Digital Library |
| Repository address | USC Digital Library, University of Southern California, University Park Campus MC 7002, 106 University Village, Los Angeles, California 90089-7002, USA |
| Repository email | cisadmin@lib.usc.edu |
| Archival file | uscthesesreloadpub_Volume4/etd-ChiamJennR-859.pdf |
Description
| Title | Page 1 |
| Contributing entity | University of Southern California |
| Repository email | cisadmin@lib.usc.edu |
| Full text | ASSOCIATION TESTING OF POLYMORPHISMS IN THE VITAMIN D METABOLISM AND SIGNALING PATHWAY WITH MULTIPLE SCLEROSIS ACROSS MULTIPLE POPULATIONS by Jenn Rong Chiam A Thesis Presented to the FACULTY OF THE USC GRADUATE SCHOOL UNIVERSITY OF SOUTHERN CALIFORNIA In Partial Fulfillment of the Requirements for the Degree MASTER OF SCIENCE (BIOSTATISTICS) August 2012 Copyright 2012 Jenn Rong Chiam |
