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).
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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Item Type: |
Article
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Status: |
Published |
Creators/Authors: |
Creators | Email | Pitt Username | ORCID |
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Radwan, ZH | | | | Wang, X | xbw1@pitt.edu | XBW1 | | Waqar, F | | | | Pirim, D | dip16@pitt.edu | DIP16 | | Niemsiri, V | vin4@pitt.edu | VIN4 | | Hokanson, JE | | | | Hamman, RF | | | | Bunker, CH | BUNKERC@pitt.edu | BUNKERC | | Barmada, MM | barmada@pitt.edu | BARMADA | | Demirci, FY | fyd1@pitt.edu | FYD1 | | Kamboh, MI | kamboh@pitt.edu | KAMBOH | |
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Contributors: |
Contribution | Contributors Name | Email | Pitt Username | ORCID |
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Editor | Meyre, David | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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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: |
School of Public Health > Epidemiology 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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