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Cited by 42Lipoproteins and Cardiovascular HealthLipid metabolism and disordersCholesterol and Lipid Metabolism

Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136 → Ser) variant in multigenerational pedigree studies

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Pocovi, M., Cenarro, A., Civeir, F., Myers, R.H., Casao, E., Esteban, M., Ordovas, J.M.·1996·Atherosclerosis
DOI 10.1016/0021-9150(95)06745-0
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Abstract

In the process of screening apolipoprotein (apo) E genotypes in a population of subjects with lipid abnormalities, we have identified five subjects (one homozygote and four heterozygotes) with an abnormal 109 base pairs band following apo E restriction isotyping of amplified DNA with the restriction endonuclease CfoI. The polymerase chain reaction (PCR) products were cloned and their sequencing revealed a C-->A substitution at the first nucleotide of codon 136. This mutation resulted in an amino acid substitution Arg to Ser, previously described as apo E2 Christchurch. Family studies were carried out for four of the probands. In these kindreds, stepwise multiple regression analyses indicated that 78% of the cholesterol variability in men was predicted by body mass index, age and the rare apo E2 (Arg136-->Ser) variant. In women, age and the apo E2 (Arg136-->Ser variant predicted 54.9% of the variability in cholesterol levels. Linkage analysis suggested that the presence of the apo E2 (Arg136-->Ser) variant was linked with the occurrence of cholesterol enriched triglyceride rich lipoproteins and with an incomplete dominance of type III hyperlipoproteinemia. Our data indicates that this mutation may be a relatively common cause of dyslipidemia in the Spanish population.

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  • Homozygosity for apoE3[R136S] and heterozygosity for apoE3[R136S] with all apoE alleles also result in type III HLP, but disease penetrance is incomplete.

    “Additionally, it has been shown that homozygosity for apoE3[R136S] and heterozygocity for apoE3[R136S] with all apoE alleles result also in type III HLP, but the penetrance of the disease is incomplete [29].”

    From Biophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia (2011) · cites this paper as [29]

    The Abstract reports one homozygote and four heterozygotes with the Arg136→Ser variant, and says linkage analysis suggested an association with incomplete dominance of type III hyperlipoproteinemia. It does not establish that heterozygosity with all other apoE alleles results in type III HLP; the citing sentence also states the outcome more definitively than the source does. (LLM, conf=0.85)

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  • APOE R136S is a very rare mutation (0.0004% allele frequency in the European population) that was originally described in APOEε2 alleles of people with type III hyperlipoproteinaemia, but is much more common in APOEε3 homozygotes than in any other genotype and has also been associated with increased plasma apolipoprotein B levels.

    “APOE R136S is a very rare mutation (0.0004% allele frequency in the European population37) that was originally described in APOEε2 alleles of people with type III hyperlipoproteinaemia38,39, but is much more common in APOEε3 homozygotes than in any other genotype and has also been associated with increased plasma apolipoprotein B (APOB) levels37.”

    From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [39]

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  1. [4]4. Schaefer, EJ ∙ Lamon-Fava, S ∙ Johnson, S ... Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein levels Arterioscler Thromb. 1994; 14:1105 Crossref PubMed Google Scholar

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Authors
Pocovi, M., Cenarro, A., Civeir, F., Myers, R. H., Casao, E., Esteban, M., & Ordovas, J. M.
Affiliations
  • Universidad de Zaragoza (ES)
  • Boston University (US)
ORCID
Venue
Atherosclerosis
Publisher
Elsevier BV
Published
1996-04
Volume
122
Issue
1
Pages
33-46
ISSN
0021-9150 (ISSN-L)
DOI
10.1016/0021-9150(95)06745-0
OpenAlex
W2107802703
Cited by
42
References
48
Citations by year
2024: 4 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 4 · 2016: 3 · 2015: 1 · 2014: 2 · 2013: 1 · 2012: 1
FWCI
2.91
Type
journal article
Language
en
Open access
Licence
Locations
  • Atherosclerosis (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords
type III hyperlipoproteinemia, apolipoprotein E2, apolipoprotein E, incomplete dominance, triglyceride-rich lipoproteins, cholesterol levels, dyslipidemia, linkage analysis, family studies, Spanish population, codon 136
MeSH terms
Adult, Aged, Amino Acid Sequence, Apolipoproteins E, Female, Genes, Dominant, Humans, Hyperlipoproteinemia Type III, Male, Middle Aged, Mutation, Pedigree, Genetic Variation, Apolipoprotein E2

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