Page 1 |
Save page Remove page | Previous | 1 of 156 | Next |
|
small (250x250 max)
medium (500x500 max)
large ( > 500x500)
Full Resolution
All (PDF)
|
This page
All
Subset |
GENETIC ASSOCIATION STUDIES OF AGE-RELATED MACULAR
DEGENERATION FROM CANDIDATE GENE TO WHOLE GENOME
by
Nicole Tedeschi-Blok
A Dissertation Presented to the
FACULTY OF THE GRADUATE SCHOOL
UNIVERSITY OF SOUTHERN CALIFORNIA
In Partial Fulfillment of the
Requirements for the Degree
DOCTOR OF PHILOSOPHY
(MOLECULAR EPIDEMIOLOGY)
May 2007
Copyright 2007 Nicole Tedeschi-Blok
Object Description
| Title | Genetic association studies of age-related macular degeneration from candidate gene to whole genome |
| Author | Tedeschi-Blok, Nicole |
| Author email | tedeschi@usc.edu |
| Degree | Doctor of Philosophy |
| Document type | Dissertation |
| Degree program | Molecular epidemiology |
| School | Keck School of Medicine |
| Date defended/completed | 2006-08-28 |
| Date submitted | 2007 |
| Restricted until | Restricted until 18 Jan. 2009. |
| Date published | 2009-01-18 |
| Advisor (committee member) |
Triche, Timothy Ingles, Sue Hinton, David |
| Abstract | Recent evidence, in Caucasian populations, implicates several complement genes and tightly linked genes at chromosomal region 10q26 as major genetic contributors of AMD. The complex nature of AMD etiology may likely explain inconsistencies in findings across studies. The Los Angeles Latino Eye Study (LALES), the largest population-based study of eye disease in any racial/ethnic group in the U.S., was used to study genetic factors with AMD in Latinos in the present association studies. Using a candidate gene association study, the Tyr402His polymorphism of complement factor H (CFH) was associated with bilateral, but not unilateral, early AMD phenotype. In a separate association study using the LALES case-control population, both CFH Tyr402His and manganese superoxide dismutase (MnSOD) Ala16Val polymorphisms were simultaneously considered with early AMD. Present results suggest that CFH and MnSOD may play dependent roles in early AMD, especially in susceptibility to AMD with pigmentary abnormalities. Using a whole genome association study with over 600,000 single nucleotide polymorphisms (SNPs), four tightly linked SNPs located in a previously implicated chromosomal region, 1q25, were significantly associated with bilateral early AMD (p [less than or equal to] 0.005, Bonferoni adjusted). These associated SNPs reside in the gene for Astrotactin (ASTN), which translates an important neuronal cell-adhesion molecule responsible for glial-guided migration of neurons. A biological role for ASTN in AMD is a novel hypothesis that warrants further study. In addition, association studies that account for interactions between genes and environment are ultimately important to fully understand the complex etiology of AMD. This dissertation also proposes a large whole genome gene-environment association study using high SNP-density and assessment of smoking, sunlight, and diet in two independent and ethnically distinct populations. |
| Keyword | whole genome association study; Astrotactin; Manganese Superoxide Dismutase; Complement Factor H |
| 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 |
| Type | texts |
| Legacy record ID | usctheses-m226 |
| Rights | Tedeschi-Blok, Nicole |
| Repository name | Libraries, University of Southern California |
| Repository address | Los Angeles, California |
| Repository email | http://www.usc.edu/isd/libraries/services/ask_a_librarian/email/ |
| Filename | etd-Tedeschi-20070118 |
| Archival file | uscthesesreloadpub_Volume51/etd-Tedeschi-20070118.pdf |
Description
| Title | Page 1 |
| Full text | GENETIC ASSOCIATION STUDIES OF AGE-RELATED MACULAR DEGENERATION FROM CANDIDATE GENE TO WHOLE GENOME by Nicole Tedeschi-Blok A Dissertation Presented to the FACULTY OF THE GRADUATE SCHOOL UNIVERSITY OF SOUTHERN CALIFORNIA In Partial Fulfillment of the Requirements for the Degree DOCTOR OF PHILOSOPHY (MOLECULAR EPIDEMIOLOGY) May 2007 Copyright 2007 Nicole Tedeschi-Blok |
Comments
Post a Comment for Page 1
