An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing
Open accessAbstract
Comparison of genomic DNA sequences from human and mouse revealed a new apolipoprotein (APO) gene ( APOAV ) located proximal to the well-characterized APOAI/CIII/AIV gene cluster on human 11q23. Mice expressing a human APOAV transgene showed a decrease in plasma triglyceride concentrations to one-third of those in control mice; conversely, knockout mice lacking Apoav had four times as much plasma triglycerides as controls. In humans, single nucleotide polymorphisms (SNPs) across the APOAV locus were found to be significantly associated with plasma triglyceride levels in two independent studies. These findings indicate that APOAV is an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease.
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The minor allele of rs3135506 (minor allele frequency about 6% in whites) has been repeatedly associated with increased plasma triglyceride concentrations.
“The minor allele of rs3135506 (minor allele frequency (MAF) of about 6% in whites) has been repeatedly associated with increased plasma TG concentrations [96–99].”
From Fenofibrate and metabolic syndrome (2010) · cites this paper as [98]
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- Authors
- Pennacchio, L. A., Olivier, M., Hubacek, J. A., Cohen, J. C., Cox, D. R., Fruchart, J.-C., Krauss, R. M., & Rubin, E. M.
- Affiliations
- Lawrence Berkeley National Laboratory (US)
- Stanford Medicine (US)
- The University of Texas Southwestern Medical Center (US)
- Inserm (FR)
- Corresponding author
- Olivier, Michael
- Rubin, Edward M.
- ORCID
- Venue
- Science
- Published
- 2001-10-05
- Volume
- 294
- Issue
- 5540
- Pages
- 169-173
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2023466812
- Cited by
- 921
- References
- 5
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 24 · 2023: 19 · 2022: 24 · 2021: 22 · 2020: 14 · 2019: 27 · 2018: 25 · 2017: 24 · 2016: 28 · 2015: 33 · 2014: 36 · 2013: 32 · 2012: 45
- FWCI
- 36.49
- Type
- journal article
- Language
- en
- Open access
- green
- www.osti.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information) (submittedVersion)
- University of North Texas Digital Library (University of North Texas) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (5p01hl018574-26, 5r01hl053917-09)
- National Heart, Lung, and Blood Institute (HL53917, U01HL066681, HL66681, HL-18574)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- apolipoprotein(a), plasma triglycerides, single nucleotide polymorphisms, genetic association, transgenic mice, knockout mice, coronary artery disease risk, 11q23
- MeSH terms
- Apolipoprotein A-V, Adult, Alleles, Animals, Apolipoproteins, Apolipoproteins A, Apolipoproteins C, Chromosomes, Human, Pair 11, Coronary Disease, Female, Multigene Family, Haplotypes, Humans, Lipoproteins, VLDL, Male, Mice, Transgenic, Risk Factors, Triglycerides, Cohort Studies, Linkage Disequilibrium, Open Reading Frames, Sequence Analysis, DNA, Mice, Knockout, Transgenes, Computational Biology, Expressed Sequence Tags, Polymorphism, Single Nucleotide, Mice, Apolipoprotein C-III
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