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Effects of Common and Rare Genetic Variants of Apolipoprotein C4 on HDL-Cholesterol Levels

Radwan, Zaheda Hassan (2011) Effects of Common and Rare Genetic Variants of Apolipoprotein C4 on HDL-Cholesterol Levels. Master's Thesis, University of Pittsburgh. (Unpublished)

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Coronary heart disease (CHD) is a major public health problem in western countries as it continues to be a leading cause of premature mortality and morbidity. Several risk factors contribute to CHD risk, including dyslipidemia with low high density lipoprotein cholesterol (HDL-C) and high low density lipoprotein cholesterol (LDL-C). Meta analysis of genome wide linkage analysis in families with diverse ethnicity has revealed a strong linkage with different lipid traits on chromosome 19q13.2. There are several candidate genes present under this linkage region, including APOE/C1/C4/C2 gene cluster. With the exception of APOE, other genes in this cluster have not been extensively evaluated in relation to lipid profile. Therefore, identifying APOC4 genetic variants that modulate HDL-C level is a great public health importance. In this study we focused on the APOC4 gene and hypothesized that rare and common variants in this gene could affect plasma lipid levels. Integration of common variants common disease (CVCD) and rare variants common disease (RVCD) hypotheses has been conducted in a limited number of studies. The aim of this study was to identify both common and rare variants in APOC4 by sequencing individuals having extreme low and high HDL-C levels from U.S. non-Hispanic Whites (NHWs) and African Blacks, and to examine their effects on HDL-C and correlated lipid levels. In the sequencing analysis, a total of 65 variants were identified in NHWs and African Blacks. Of these 26 were present in NHWs and 51 in Blacks. Among NHWs, 31% of the low HDL-C group had rare or less common variants versus 10% of the high HDL-C group. On the other hand, reverse trend was observed in the Black sample (46% of the low HDL-C group versus 54% of the high HDL-C). Screening of these observed rare and common variants in the complete NHWs and Blacks dataset would provide more information about their association with plasma HDL-C and correlated lipid traits.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Radwan, Zaheda
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairKamboh, M. Ilyaskamboh@pitt.eduKAMBOH
Committee MemberBunker, Clareann HBUNKERC@pitt.eduBUNKERC
Committee MemberDemirci, F. Yesimfyd1@pitt.eduFYD1
Date: 31 January 2011
Date Type: Completion
Defense Date: 6 December 2010
Approval Date: 31 January 2011
Submission Date: 30 November 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 > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: APOC4 and Lipid
Other ID:, etd-11302010-103708
Date Deposited: 10 Nov 2011 20:07
Last Modified: 15 Nov 2016 13:52


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