Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations

Maen D. Abou Ziki, Yael Strulovici-Barel, Neil R. Hackett, Juan L. Rodriguez-Flores, Jason G. Mezey, Jacqueline Salit, Sharon Radisch, Charleen Hollmann, Lotfi Chouchane, Joel Malek, Mahmoud A. Zirie, Amin Jayyuosi, Antonio M. Gotto, Ronald Crystal

Research output: Contribution to journalArticle

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Abstract

Apolipoprotein E, a protein component of blood lipid particles, plays an important role in lipid transport. Different mutations in the apolipoprotein E gene have been associated with various clinical phenotypes. In an initiated study of Qataris, we observed that 17% of the African-derived genetic subgroup were heterozygotes for a rare Arg145Cys (R145C) variant that functions as a dominant trait with incomplete penetrance associated with type III hyperlipoproteinemia. On the basis of this observation, we hypothesized that the R145C polymorphism might be common in African-derived populations. The prevalence of the R145C variant was assessed worldwide in the "1000 Genomes Project" and in 1,012 whites and 1,226 African-Americans in New York, New York. The 1000 Genomes Project data demonstrated that the R145C polymorphism is rare in non-African-derived populations but present in 5% to 12% of Sub-Saharan African-derived populations. The R145C polymorphism was also rare in New York whites (1 of 1,012, 0.1%); however, strikingly, 53 of the 1,226 New York African-Americans (4.3%) were R145C heterozygotes. The lipid profiles of the Qatari and New York R145C heterozygotes were compared with those of controls. The Qatari R145C subjects had higher triglyceride levels than the Qatari controls (p <0.007) and the New York African-American R145C subjects had an average of 52% greater fasting triglyceride levels than the New York African-American controls (p <0.002). From these observations, likely millions of people worldwide derived from Sub-Saharan Africans are apolipoprotein E R145C. In conclusion, although larger epidemiologic studies are necessary to determine the long-term consequences of this polymorphism, the available evidence suggests it is a common cause of a mild triglyceride dyslipidemia.

Original languageEnglish
Pages (from-to)302-308
Number of pages7
JournalAmerican Journal of Cardiology
Volume113
Issue number2
DOIs
Publication statusPublished - 15 Jan 2014

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Apolipoproteins
Dyslipidemias
African Americans
Apolipoproteins E
Population
Heterozygote
Triglycerides
Lipids
Hyperlipoproteinemia Type III
Genome
Penetrance
Blood Proteins
Epidemiologic Studies
Fasting
Phenotype
Mutation
Genes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Abou Ziki, M. D., Strulovici-Barel, Y., Hackett, N. R., Rodriguez-Flores, J. L., Mezey, J. G., Salit, J., ... Crystal, R. (2014). Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations. American Journal of Cardiology, 113(2), 302-308. https://doi.org/10.1016/j.amjcard.2013.09.021

Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations. / Abou Ziki, Maen D.; Strulovici-Barel, Yael; Hackett, Neil R.; Rodriguez-Flores, Juan L.; Mezey, Jason G.; Salit, Jacqueline; Radisch, Sharon; Hollmann, Charleen; Chouchane, Lotfi; Malek, Joel; Zirie, Mahmoud A.; Jayyuosi, Amin; Gotto, Antonio M.; Crystal, Ronald.

In: American Journal of Cardiology, Vol. 113, No. 2, 15.01.2014, p. 302-308.

Research output: Contribution to journalArticle

Abou Ziki, MD, Strulovici-Barel, Y, Hackett, NR, Rodriguez-Flores, JL, Mezey, JG, Salit, J, Radisch, S, Hollmann, C, Chouchane, L, Malek, J, Zirie, MA, Jayyuosi, A, Gotto, AM & Crystal, R 2014, 'Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations', American Journal of Cardiology, vol. 113, no. 2, pp. 302-308. https://doi.org/10.1016/j.amjcard.2013.09.021
Abou Ziki MD, Strulovici-Barel Y, Hackett NR, Rodriguez-Flores JL, Mezey JG, Salit J et al. Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations. American Journal of Cardiology. 2014 Jan 15;113(2):302-308. https://doi.org/10.1016/j.amjcard.2013.09.021
Abou Ziki, Maen D. ; Strulovici-Barel, Yael ; Hackett, Neil R. ; Rodriguez-Flores, Juan L. ; Mezey, Jason G. ; Salit, Jacqueline ; Radisch, Sharon ; Hollmann, Charleen ; Chouchane, Lotfi ; Malek, Joel ; Zirie, Mahmoud A. ; Jayyuosi, Amin ; Gotto, Antonio M. ; Crystal, Ronald. / Prevalence of the apolipoprotein e arg145cys dyslipidemia at-risk polymorphism in african-derived populations. In: American Journal of Cardiology. 2014 ; Vol. 113, No. 2. pp. 302-308.
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