Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2

Breslow, J L; Zannis, V I; SanGiacomo, T R; Third, J L; Tracy, T; Glueck, C J

doi:10.1016/s0022-2275(20)38060-3

Cited by 174Lipoproteins and Cardiovascular HealthLipid metabolism and disordersCholesterol and Lipid Metabolism

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Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2

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Breslow, J L, Zannis, V I, SanGiacomo, T R, Third, J L, Tracy, T, Glueck, C J·1982·Journal of Lipid Research

DOI 10.1016/s0022-2275(20)38060-3

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Abstract

Clinical symptoms, lipoprotein patterns, and apoE phenotypes were determined in 17 individuals with type III hyperlipoproteinemia (type III HLP) and in their relatives and spouses. The apoE phenotype E2/2 occurred in 15 type III HLP probands (88%) and the apoE phenotype E4/2 was found in 2 probands. In each of the families studied, the apoE phenotype inheritance was compatible with a model we previously proposed in which apoE is determined at a single genetic locus with three common alleles. The apoE phenotypes E4/4, E3/3, and E2/2 represent homozygosity for the apoE alleles epsilon4, epsilon3, and epsilon2, respectively, whereas the apoE phenotypes E4/3, E3/2, and E4/2 represent heterozygosity for the apoE alleles epsilon4/epsilon3, epsilon3/epsilon2, and epsilon4/epsilon2, respectively. Plasma lipids in 69 relatives of type III HLP probands were analyzed by apoE phenotype and revealed no significant differences between phenotypes in the levels of cholesterol, triglyceride, or HDL cholesterol. However, there were differences between the apoE phenotypes in LDL cholesterol levels (P = 0.01) and in the ratio of VLDL cholesterol/total triglyceride (ratio) (P 0.25 and two had ratios >0.30 with the ratios for males (0.28 +/- 0.06) significantly greater than the ratios for females (0.17 +/- 0.06) (P < 0.01), and seven had evidence of floating betaVLDL on lipoprotein electrophoresis. In addition, when compared to a control group in the general population, the whole group of relative…

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Affected subjects are often homozygous for apo E2, but heterozygosity for this variant has also been reported in association with the disease.
“Affected subjects are often homozygous for apo E2, but hetero- zygosity for this variant has also been reported in association with this disease (4)(5)(6)(7)(8).”
From Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. (1987) · cites this paper as [4]
The recessive form of type III HLP is encountered in subjects with the E2/2 phenotype, which results from substitution of Cys for Arg-158.
“The recessive form of type III HLP is encountered in subjects with the E2/2 phenotype which results from the substitution of Cys for Arg-158 ( 10 ).”
From Molecular etiology of a dominant form of type III hyperlipoproteinemia caused by R142C substitution in apoE4 (2011) · cites this paper as [10]

Human apolipoprotein E. The complete amino acid sequence
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Zannis, V. I., & Breslow, J. L. (1981) · Biochemistry · doi:10.1021/bi00507a059 · Cited by 563
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Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes
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Enhanced binding by cultured human fibroblasts of apo-E-containing lipoproteins as compared with low density lipoproteins
Innerarity, T. L., & Mahley, R. W. (1978) · Biochemistry · doi:10.1021/bi00601a013 · Cited by 433

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Authors: Breslow, J. L., Zannis, V. I., SanGiacomo, T. R., Third, J. L., Tracy, T., & Glueck, C. J.
Affiliations: Harvard University (US)
ORCID: Breslow, J L
Zannis, V I
Glueck, C J
Venue: Journal of Lipid Research
Publisher: Elsevier BV
Published: 1982-11
Volume: 23
Issue: 8
Pages: 1224-1235
ISSN: 0022-2275 (ISSN-L)
DOI: 10.1016/s0022-2275(20)38060-3
OpenAlex: W2154838738
Cited by: 174
References: 4
Citations by year: 2025: 2 · 2024: 3 · 2022: 3 · 2021: 4 · 2020: 4 · 2019: 2 · 2018: 3 · 2017: 1 · 2016: 6 · 2015: 6 · 2014: 6 · 2013: 8 · 2012: 6
FWCI: 17.01
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by/4.0/ (vor, 13842 d)
Locations: Journal of Lipid Research (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
Keywords: type III hyperlipoproteinemia, familial hypertriglyceridemia, genetic markers, APOE alleles, LDL cholesterol, triglycerides, HDL cholesterol, relatives of patients, sex differences in lipid levels, lipid-lowering drugs, angina pectoris
MeSH terms: Adult, Aged, Alleles, Apolipoproteins, Apolipoproteins E, Cholesterol, Female, Humans, Hyperlipoproteinemia Type III, Lipids, Male, Middle Aged, Phenotype, Triglycerides

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Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2

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