An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing

L. A. Pennacchio, M. Olivier, J. A. Hubacek, J. C. Cohen, D. R. Cox, J. C. Fruchart, R. M. Krauss, E. M. Rubin

Research output: Contribution to journalArticle

741 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)169-173
Number of pages5
JournalScience
Volume294
Issue number5540
DOIs
StatePublished - Oct 5 2001

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    Pennacchio, L. A., Olivier, M., Hubacek, J. A., Cohen, J. C., Cox, D. R., Fruchart, J. C., Krauss, R. M., & Rubin, E. M. (2001). An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science, 294(5540), 169-173. https://doi.org/10.1126/science.1064852