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Sequence variation in the CD36 gene and its relationship with plasma HDL cholesterol levels

Hughes, Sarah Caitlin (2010) Sequence variation in the CD36 gene and its relationship with plasma HDL cholesterol levels. Master's Thesis, University of Pittsburgh. (Unpublished)

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Heart disease (HD) is a primary public health concern, with HD being one of the leading causes of death every year in the United States. Many risk factors influence HD, including lipid levels, and studies have shown that higher levels of plasma high density lipoprotein (HDL) cholesterol have a protective effect against HD. Recent genome-wide linkage scans have associated a locus on chromosome 7, harboring CD36, as being involved in components of the metabolic syndrome, including HDL-C levels. Therefore, identifying variation in this gene affecting HDL-C levels is of great public health importance. The "common variant-common disease" hypothesis has been tested by a limited number of studies through common SNP genotyping with inconsistent results. To date, no studies to our knowledge have evaluated CD36 using the "rare variant-common disease" hypothesis. The aim of this study was to further evaluate the role of common and rare variation in CD36 by sequencing individuals having extremely low and high HDL-cholesterol levels in two populations, U.S. Non-Hispanic Whites (NHWs), and African Blacks. In our initial sequence analysis, 343 variants were identified in CD36, 168 of which were previously unreported in the SeattleSNPs database. According to preliminary analysis of the sequencing data, our findings support the associations of three SNPs with HDL-C levels reported in the literature. No striking difference was noticed between the distribution of rare variants between high and low HDL-C groups. We identified four common variants (MAF ≥ 5%) in our sequencing data from our small sample that displayed statistically significant differences in MAF between the low and high HDL-C groups but have not been confirmed yet by genotyping in the entire NHW and Black populations while thirteen common variants had p-values between 5-10%, which may be statistically significant due to the small sample size. To date, screening data was compiled for the entire NHWs and Black samples for a total of nineteen common variants. None of these variants displayed a significant p-value in our entire NHW and Black samples. Additional variants identified in sequencing remain to be screened in the entire NHW and Black samples.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Hughes, Sarah Caitlinscs62@pitt.eduSCS62
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairKamboh, M Ilyaskamboh@pitt.eduKAMBOH
Committee MemberFinegold, David Ndnf@pitt.eduDNF
Committee MemberDemirci, F Yesimfyd1@pitt.eduFYD1
Date: 29 June 2010
Date Type: Completion
Defense Date: 13 April 2010
Approval Date: 29 June 2010
Submission Date: 5 April 2010
Access Restriction: 5 year -- Restrict access to University of Pittsburgh for a period of 5 years.
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: cardiovascular disease; polymorphism
Other ID:, etd-04052010-143451
Date Deposited: 10 Nov 2011 19:34
Last Modified: 15 Nov 2016 13:38


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