Apolipoprotein A5: A newly identified gene impacting plasmatriglyceride levels in humans and mice

Journal Article · Sun Sep 15 04:00:00 EDT 2002 · Arteriosclerosis, Thrombosis and Vascular Biology(ATVB)

OSTI ID:894967

Pennacchio, Len A; Rubin, Edward M

Apolipoprotein A5 (APOA5) is a newly described member of theapolipoprotein gene family whose initial discovery arose from comparativesequence analysis of the mammalian APOA1/C3/A4 gene cluster. Functionalstudies in mice indicated that alteration in the level of APOA5significantly impacted plasma triglyceride concentrations. Miceover-expressing human APOA5 displayed significantly reducedtriglycerides, while mice lacking apoA5 had a large increase in thislipid parameter. Studies in humans have also suggested an important rolefor APOA5 in determining plasma triglyceride concentrations. In theseexperiments, polymorphisms in the human gene were found to define severalcommon haplotypes that were associated with significant changes intriglyceride concentrations in multiple populations. Several separateclinical studies have provided consistent and strong support for theeffect with 24 percent of Caucasians, 35 percent of African-Americans and53 percent of Hispanics carrying APOA5 haplotypes associated withincreased plasma triglyceride levels. In summary, APOA5 represents anewly discovered gene involved in triglyceride metabolism in both humansand mice whose mechanism of action remains to be deciphered.

• Research Organization: Ernest Orlando Lawrence Berkeley NationalLaboratory, Berkeley, CA (US)
• Sponsoring Organization: USDOE Director, Office of Science; National Institutes ofHealth
• DOE Contract Number: AC02-05CH11231
• OSTI ID: 894967
• Report Number(s): LBNL--51572; BnR: 400412000
• Journal Information: Arteriosclerosis, Thrombosis and Vascular Biology(ATVB), Journal Name: Arteriosclerosis, Thrombosis and Vascular Biology(ATVB) Vol. 24
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES