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Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. Whites and African Blacks

Radwan, ZH and Wang, X and Waqar, F and Pirim, D and Niemsiri, V and Hokanson, JE and Hamman, RF and Bunker, CH and Barmada, MM and Demirci, FY and Kamboh, MI (2014) Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. Whites and African Blacks. PLoS ONE, 9 (12).

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Abstract

Although common APOE genetic variation has a major influence on plasma LDL-cholesterol, its role in affecting HDL-cholesterol and triglycerides is not well established. Recent genome-wide association studies suggest that APOE also affects plasma variation in HDL-cholesterol and triglycerides. It is thus important to resequence the APOE gene to identify both common and uncommon variants that affect plasma lipid profile. Here, we have sequenced the APOE gene in 190 subjects with extreme HDL-cholesterol levels selected from two well-defined epidemiological samples of U.S. non-Hispanic Whites (NHWs) and African Blacks followed by genotyping of identified variants in the entire datasets (623 NHWs, 788 African Blacks) and association analyses with major lipid traits. We identified a total of 40 sequence variants, of which 10 are novel. A total of 32 variants, including common tagSNPs (≥5% frequency) and all uncommon variants (<5% frequency) were successfully genotyped and considered for genotype-phenotype associations. Other than the established associations of APOE∗2 and APOE∗4 with LDL-cholesterol, we have identified additional independent associations with LDL-cholesterol. We have also identified multiple associations of uncommon and common APOE variants with HDL-cholesterol and triglycerides. Our comprehensive sequencing and genotype-phenotype analyses indicate that APOE genetic variation impacts HDL-cholesterol and triglycerides in addition to affecting LDL-cholesterol.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Radwan, ZH
Wang, Xxbw1@pitt.eduXBW1
Waqar, F
Pirim, Ddip16@pitt.eduDIP16
Niemsiri, Vvin4@pitt.eduVIN4
Hokanson, JE
Hamman, RF
Bunker, CHBUNKERC@pitt.eduBUNKERC
Barmada, MMbarmada@pitt.eduBARMADA
Demirci, FYfyd1@pitt.eduFYD1
Kamboh, MIkamboh@pitt.eduKAMBOH
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorMeyre, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Date: 12 December 2014
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 9
Number: 12
DOI or Unique Handle: 10.1371/journal.pone.0114618
Schools and Programs: Graduate School of Public Health > Epidemiology
Graduate School of Public Health > Human Genetics
Refereed: Yes
Other ID: NLM PMC4264772
PubMed Central ID: PMC4264772
PubMed ID: 25502880
Date Deposited: 12 May 2015 18:43
Last Modified: 30 Mar 2021 17:55
URI: http://d-scholarship.pitt.edu/id/eprint/24074

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