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Title: Two independent apolipoprotein a5 Haplotypes influence human plasma triglyceride levels

Abstract

The recently identified apolipoprotein A5 gene (APOA5) has been shown to play an important role in determining plasma triglyceride concentrations in humans and mice. We previously identified an APOA5 haplotype (designated APOA5*2) that is present in {approx}16 percent of Caucasians and is associated with increased plasma triglyceride concentrations. In this report we describe another APOA5 haplotype (APOA5*3) containing the rare allele of the single nucleotide polymorphism c.56C>G that changes serine to tryptophan at codon 19 and is independently associated with high plasma triglyceride levels in three different populations. In a sample of 264 Caucasian men and women with plasma triglyceride concentrations above the 90th percentile or below the 10th percentile, the APOA5*3 haplotype was more than three-fold more common in the group with high plasma triglyceride levels. In a second independently ascertained sample of Caucasian men and women (n 1/4 419) who were studied while consuming their self-selected diets as well as after high-carbohydrate diets and high-fat diets, the APOA5*3 haplotype was associated with increased plasma triglyceride levels on all three dietary regimens. In a third population comprising 2660 randomly selected individuals, the APOA5*3 haplotype was found in 12 percent of Caucasians, 14 percent of African-Americans and 28 percent ofmore » Hispanics and was associated with increased plasma triglyceride levels in both men and women in each ethnic group. These findings establish that the APOA5 locus contributes significantly to inter-individual variation in plasma triglyceride levels in humans. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25 50 percent of African-Americans, Hispanics and Caucasians and support the contribution of common human variation to quantitative phenotypes in the general population.« less

Authors:
; ; ; ; ;
Publication Date:
Research Org.:
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Sponsoring Org.:
USDOE Director, Office of Science. Office of Biological and Environmental Research. Life Sciences Division (US)
OSTI Identifier:
822955
Report Number(s):
LBNL-50367
R&D Project: GHRUB4; TRN: US200414%%410
DOE Contract Number:  
AC03-76SF00098
Resource Type:
Journal Article
Journal Name:
Human Molecular Genetics
Additional Journal Information:
Journal Volume: 11; Journal Issue: 24; Other Information: Journal Publication Date: 2002; PBD: 16 Sep 2002
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; 60 APPLIED LIFE SCIENCES; APOLIPOPROTEINS; CODONS; GENES; MICE; MINORITY GROUPS; NUCLEOTIDES; PLASMA; SERINE; TRIGLYCERIDES; TRYPTOPHAN

Citation Formats

Pennacchio, Len A, Olivier, Michael, Hubacek, Jaroslav A, Krauss, Ronald M, Rubin, Edward M, and Cohen, Jonathan C. Two independent apolipoprotein a5 Haplotypes influence human plasma triglyceride levels. United States: N. p., 2002. Web. doi:10.1093/hmg/11.24.3031.
Pennacchio, Len A, Olivier, Michael, Hubacek, Jaroslav A, Krauss, Ronald M, Rubin, Edward M, & Cohen, Jonathan C. Two independent apolipoprotein a5 Haplotypes influence human plasma triglyceride levels. United States. https://doi.org/10.1093/hmg/11.24.3031
Pennacchio, Len A, Olivier, Michael, Hubacek, Jaroslav A, Krauss, Ronald M, Rubin, Edward M, and Cohen, Jonathan C. 2002. "Two independent apolipoprotein a5 Haplotypes influence human plasma triglyceride levels". United States. https://doi.org/10.1093/hmg/11.24.3031.
@article{osti_822955,
title = {Two independent apolipoprotein a5 Haplotypes influence human plasma triglyceride levels},
author = {Pennacchio, Len A and Olivier, Michael and Hubacek, Jaroslav A and Krauss, Ronald M and Rubin, Edward M and Cohen, Jonathan C},
abstractNote = {The recently identified apolipoprotein A5 gene (APOA5) has been shown to play an important role in determining plasma triglyceride concentrations in humans and mice. We previously identified an APOA5 haplotype (designated APOA5*2) that is present in {approx}16 percent of Caucasians and is associated with increased plasma triglyceride concentrations. In this report we describe another APOA5 haplotype (APOA5*3) containing the rare allele of the single nucleotide polymorphism c.56C>G that changes serine to tryptophan at codon 19 and is independently associated with high plasma triglyceride levels in three different populations. In a sample of 264 Caucasian men and women with plasma triglyceride concentrations above the 90th percentile or below the 10th percentile, the APOA5*3 haplotype was more than three-fold more common in the group with high plasma triglyceride levels. In a second independently ascertained sample of Caucasian men and women (n 1/4 419) who were studied while consuming their self-selected diets as well as after high-carbohydrate diets and high-fat diets, the APOA5*3 haplotype was associated with increased plasma triglyceride levels on all three dietary regimens. In a third population comprising 2660 randomly selected individuals, the APOA5*3 haplotype was found in 12 percent of Caucasians, 14 percent of African-Americans and 28 percent of Hispanics and was associated with increased plasma triglyceride levels in both men and women in each ethnic group. These findings establish that the APOA5 locus contributes significantly to inter-individual variation in plasma triglyceride levels in humans. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25 50 percent of African-Americans, Hispanics and Caucasians and support the contribution of common human variation to quantitative phenotypes in the general population.},
doi = {10.1093/hmg/11.24.3031},
url = {https://www.osti.gov/biblio/822955}, journal = {Human Molecular Genetics},
number = 24,
volume = 11,
place = {United States},
year = {Mon Sep 16 00:00:00 EDT 2002},
month = {Mon Sep 16 00:00:00 EDT 2002}
}