Genetic analysis of a polymorphism in the human apoA-V gene

Effect on plasma lipids

Bradley E. Aouizerat, Medha Kulkarni, David Heilbron, Donna Drown, Stephen Raskin, Clive R. Pullinger, Mary J. Malloy, John P. Kane

Research output: Contribution to journalArticle

Abstract

Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in terms of its frequency among three dyslipidemic populations and a control population, differences of allele frequency across available ethnic groups, and associations with specific lipoprotein TG and cholesterol compartments. We found a striking elevation in the frequency of the rare allele in a Chinese population (P = 0.0002) compared with Hispanic and European populations. The rare allele of the polymorphism was associated with elevated plasma TG (P = 0.012), VLDL cholesterol (P = 0.0007), and VLDL TG (P = 0.012), LDL TG (P = 0.003), and HDL TG (P = 0.016). Linear regression models predict that possession of the rare allele elevates plasma TG by 21 mg/dl (P = 0.009) and VLDL cholesterol by 8 mg/dl (P = 0.0001), and reduces HDL cholesterol by 2 mg/dl (P = 0.017). The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, and hyperalphalipoproteinemia, and in controls. These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease.

Original languageEnglish (US)
Pages (from-to)1167-1173
Number of pages7
JournalJournal of Lipid Research
Volume44
Issue number6
DOIs
StatePublished - Jun 2003

Fingerprint

Apolipoproteins A
Polymorphism
Triglycerides
Genes
Lipids
Plasmas
VLDL Cholesterol
Gene Frequency
Lipoproteins
Linear Models
Hypoalphalipoproteinemias
Alleles
Population
Population Control
Hyperlipidemias
Hispanic Americans
Ethnic Groups
Linear regression
Metabolism
HDL Cholesterol

Keywords

  • Dyslipidemia
  • Ethnicity
  • Lipoprotein

ASJC Scopus subject areas

  • Endocrinology

Cite this

Aouizerat, B. E., Kulkarni, M., Heilbron, D., Drown, D., Raskin, S., Pullinger, C. R., ... Kane, J. P. (2003). Genetic analysis of a polymorphism in the human apoA-V gene: Effect on plasma lipids. Journal of Lipid Research, 44(6), 1167-1173. https://doi.org/10.1194/jlr.M200480-JLR200

Genetic analysis of a polymorphism in the human apoA-V gene : Effect on plasma lipids. / Aouizerat, Bradley E.; Kulkarni, Medha; Heilbron, David; Drown, Donna; Raskin, Stephen; Pullinger, Clive R.; Malloy, Mary J.; Kane, John P.

In: Journal of Lipid Research, Vol. 44, No. 6, 06.2003, p. 1167-1173.

Research output: Contribution to journalArticle

Aouizerat, BE, Kulkarni, M, Heilbron, D, Drown, D, Raskin, S, Pullinger, CR, Malloy, MJ & Kane, JP 2003, 'Genetic analysis of a polymorphism in the human apoA-V gene: Effect on plasma lipids', Journal of Lipid Research, vol. 44, no. 6, pp. 1167-1173. https://doi.org/10.1194/jlr.M200480-JLR200
Aouizerat, Bradley E. ; Kulkarni, Medha ; Heilbron, David ; Drown, Donna ; Raskin, Stephen ; Pullinger, Clive R. ; Malloy, Mary J. ; Kane, John P. / Genetic analysis of a polymorphism in the human apoA-V gene : Effect on plasma lipids. In: Journal of Lipid Research. 2003 ; Vol. 44, No. 6. pp. 1167-1173.
@article{e8d28eabe37f455195933017cd9c6095,
title = "Genetic analysis of a polymorphism in the human apoA-V gene: Effect on plasma lipids",
abstract = "Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in terms of its frequency among three dyslipidemic populations and a control population, differences of allele frequency across available ethnic groups, and associations with specific lipoprotein TG and cholesterol compartments. We found a striking elevation in the frequency of the rare allele in a Chinese population (P = 0.0002) compared with Hispanic and European populations. The rare allele of the polymorphism was associated with elevated plasma TG (P = 0.012), VLDL cholesterol (P = 0.0007), and VLDL TG (P = 0.012), LDL TG (P = 0.003), and HDL TG (P = 0.016). Linear regression models predict that possession of the rare allele elevates plasma TG by 21 mg/dl (P = 0.009) and VLDL cholesterol by 8 mg/dl (P = 0.0001), and reduces HDL cholesterol by 2 mg/dl (P = 0.017). The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, and hyperalphalipoproteinemia, and in controls. These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease.",
keywords = "Dyslipidemia, Ethnicity, Lipoprotein",
author = "Aouizerat, {Bradley E.} and Medha Kulkarni and David Heilbron and Donna Drown and Stephen Raskin and Pullinger, {Clive R.} and Malloy, {Mary J.} and Kane, {John P.}",
year = "2003",
month = "6",
doi = "10.1194/jlr.M200480-JLR200",
language = "English (US)",
volume = "44",
pages = "1167--1173",
journal = "Journal of Lipid Research",
issn = "0022-2275",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "6",

}

TY - JOUR

T1 - Genetic analysis of a polymorphism in the human apoA-V gene

T2 - Effect on plasma lipids

AU - Aouizerat, Bradley E.

AU - Kulkarni, Medha

AU - Heilbron, David

AU - Drown, Donna

AU - Raskin, Stephen

AU - Pullinger, Clive R.

AU - Malloy, Mary J.

AU - Kane, John P.

PY - 2003/6

Y1 - 2003/6

N2 - Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in terms of its frequency among three dyslipidemic populations and a control population, differences of allele frequency across available ethnic groups, and associations with specific lipoprotein TG and cholesterol compartments. We found a striking elevation in the frequency of the rare allele in a Chinese population (P = 0.0002) compared with Hispanic and European populations. The rare allele of the polymorphism was associated with elevated plasma TG (P = 0.012), VLDL cholesterol (P = 0.0007), and VLDL TG (P = 0.012), LDL TG (P = 0.003), and HDL TG (P = 0.016). Linear regression models predict that possession of the rare allele elevates plasma TG by 21 mg/dl (P = 0.009) and VLDL cholesterol by 8 mg/dl (P = 0.0001), and reduces HDL cholesterol by 2 mg/dl (P = 0.017). The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, and hyperalphalipoproteinemia, and in controls. These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease.

AB - Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in terms of its frequency among three dyslipidemic populations and a control population, differences of allele frequency across available ethnic groups, and associations with specific lipoprotein TG and cholesterol compartments. We found a striking elevation in the frequency of the rare allele in a Chinese population (P = 0.0002) compared with Hispanic and European populations. The rare allele of the polymorphism was associated with elevated plasma TG (P = 0.012), VLDL cholesterol (P = 0.0007), and VLDL TG (P = 0.012), LDL TG (P = 0.003), and HDL TG (P = 0.016). Linear regression models predict that possession of the rare allele elevates plasma TG by 21 mg/dl (P = 0.009) and VLDL cholesterol by 8 mg/dl (P = 0.0001), and reduces HDL cholesterol by 2 mg/dl (P = 0.017). The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, and hyperalphalipoproteinemia, and in controls. These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease.

KW - Dyslipidemia

KW - Ethnicity

KW - Lipoprotein

UR - http://www.scopus.com/inward/record.url?scp=0142010550&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0142010550&partnerID=8YFLogxK

U2 - 10.1194/jlr.M200480-JLR200

DO - 10.1194/jlr.M200480-JLR200

M3 - Article

VL - 44

SP - 1167

EP - 1173

JO - Journal of Lipid Research

JF - Journal of Lipid Research

SN - 0022-2275

IS - 6

ER -