Genetic transmission of isoapolipoprotein E phenotypes in a large kindred: Relationship to dysbetalipoproteinemia and hyperlipidemia
Abstract
The largest reported kindred of a proband with type III hyperlipoproteinemia was investigated by assessment of lipid and lipoprotein levels and very low density lipoprotein (VLDL) isoapolipoprotein E distributions in all accessible family members (56% of the 124 living blood relatives and 59% of the 37 spouses). The results confirm in this kindred a trimodal distribution of apoE3/E2 ratios, and segregation analysis of 16 informative matings classified according to E3/E2 ratio demonstrated classical Mendelian inheritance of the autosomal codominant type: the E3/E2 ratio is determined by two alleles, apoE3d and apoE3n, which produce three phenotypes apoE3-D, apoE3-ND, and apoE3-N, corresponding to the low, intermediate, and high modes, respectively. Vertical transmission of the apoE3-D phenotype occurred in two branches of the second generation. In both instances this represented pseudodominance; i.e., products of heterozygous (apoE3-ND) x homozygous (apoE3-D) matings. Hyperlipidemia (defined as a low density lipoprotein cholesterol and/or plasma triglyceride level exceeding the respective age-, sex-, and sex-steroid-specific 95th percentiles derived from Lipid Research Clinics population studies) was present in 15 blood relatives in multiple lipoprotein patterns, consistent with the presence of familial combined hyperlipidemia in this kindred. Eight of nine members with the apoE3-D phenotype had either type III hyperlipoproteinemia or, in the absence of hyperlipidemia, beta-VL…
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Type III is currently thought to arise from two genetic defects: one in the apo E structural gene and another that causes hyperlipidemia, likely familial combined hyperlipidemia.
“Type III is currently believed to result from two gene defects, one in the apo E structural gene and the other in a gene causing hyperlipidemia, probably familial combined hyperlipidemia (2, 11).”
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 [11]
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- Authors
- Hazzard, W. R., Warnick, G. R., Utermann, G., & Albers, J. J.
- Affiliations
- Howard Hughes Medical Institute (US)
- Corresponding author
- Hazzard, William R.
- ORCID
- Warnick, G.Russell
- Venue
- Metabolism
- Publisher
- Elsevier BV
- Published
- 1981-01
- Volume
- 30
- Issue
- 1
- Pages
- 79-88
- ISSN
- 0026-0495 (ISSN-L)
- OpenAlex
- W1998100755
- Cited by
- 77
- References
- 0
- Citations by year
- 2024: 1 · 2015: 1 · 2012: 1
- FWCI
- 6.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- type III hyperlipoproteinemia, dysbetalipoproteinemia, hyperlipidemia, familial combined hyperlipidemia, autosomal codominant inheritance, VLDL cholesterol, VLDL triglycerides, genetic transmission, serum lipids, triglycerides
- MeSH terms
- Adolescent, Adult, Aged, Apolipoproteins, Apolipoproteins E, Child, Cholesterol, Female, Humans, Hyperlipidemias, Hyperlipoproteinemia Type III, Isoelectric Focusing, Lipoproteins, VLDL, Male, Middle Aged, Pedigree, Phenotype, Sex Factors, Triglycerides
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