Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT
Abstract
Mutations in ABCA1, APOA1, and LCAT reduce HDL cholesterol (HDLc) in humans. However, the prevalence of these mutations and their relative effects on HDLc reduction and risk of coronary artery disease (CAD) are less clear. Here we searched for ABCA1, APOA1, and LCAT mutations in 178 unrelated probands with HDLc <10th percentile but no other major lipid abnormalities, including 89 with ≥1 first-degree relative with low HDLc (familial probands) and 89 where familial status of low HDLc is uncertain (unknown probands). Mutations were most frequent in LCAT (15.7%), followed by ABCA1 (9.0%) and APOA1 (4.5%), and were found in 42.7% of familial but only 14.6% of unknown probands (p=2.44∗10(-5)). Interestingly, only 16 of 24 (66.7%) mutations assessed in families conferred an average HDLc <10th percentile. Furthermore, only mutation carriers with HDLc <5th percentile had elevated risk of CAD (odds ratio (OR)=2.26 for 34 ABCA1 mutation carriers vs. 149 total first-degree relative controls, p=0.05; OR=2.50 for 26 APOA1 mutation carriers, p=0.04; OR=3.44 for 38 LCAT mutation carriers, p=1.1∗10(-3)). These observations show that mutations in ABCA1, APOA1, and LCAT are sufficient to explain >40% of familial hypoalphalipoproteinemia in this cohort. Moreover, individuals with mutations and large reductions in HDLc have increased risk of CAD. This article is part of a Special Issue entitled Advances in High Density Lipoprotein Formation and Metabolism: A Tribute to John F. Oram (1945-2010).
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Italian studies found no evidence for an increased risk of atherosclerosis in heterozygous carriers of LCAT mutations.
“Italian studies found no evidence for an increased risk of atherosclerosis in heterozygous carriers of LCAT mutations [32–34].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [32]
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MUTAÇÕES NO GENE LCAT E HETEROGENEIDADE CLÍNICA: MAPEAMENTO DE CORRELAÇÕES GENÓTIPO-FENÓTIPO
da Silva, H. J. N., Miranda, E. P., Oliveira, D. M. T. E., Machado, K. D. C., Machado, K. D. C., Neto, P. A. D. M., Pinto, G. C. O., & da Silva, A. S. (2026) · Revista Multidisciplinar do Nordeste Mineiro · doi:10.66104/9ty4ma64
- Authors
- Tietjen, I., Hovingh, G. K., Singaraja, R., Radomski, C., McEwen, J., Chan, E., Mattice, M., Legendre, A., Kastelein, J. J. P., & Hayden, M. R.
- Affiliations
- Xenon Pharmaceuticals (Canada) (CA)
- Amsterdam UMC Location University of Amsterdam (NL)
- University of British Columbia (CA)
- Corresponding author
- Hayden, Michael R.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 1821
- Issue
- 3
- Pages
- 416-424
- ISSN
- 1388-1981 (ISSN-L)
- OpenAlex
- W1963772510
- Cited by
- 58
- References
- 38
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 7 · 2022: 5 · 2021: 5 · 2020: 3 · 2019: 1 · 2018: 4 · 2017: 5 · 2016: 2 · 2015: 9 · 2014: 6 · 2013: 4 · 2012: 3
- FWCI
- 4.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- coronary artery disease, HDL cholesterol, familial hypoalphalipoproteinemia, ABCA1 mutations, genetic mutations, low HDL cholesterol, cardiovascular risk, Caucasians
- MeSH terms
- Adult, Aged, Coronary Artery Disease, Female, Heterozygote, Humans, Phosphatidylcholine-Sterol O-Acyltransferase, Cholesterol, HDL, Male, Middle Aged, Pedigree, Phenotype, Risk Factors, Cohort Studies, Prevalence, Apolipoprotein A-I, Sequence Deletion, Sequence Analysis, DNA, ATP-Binding Cassette Transporters, Mutation, Missense, White People, Genetic Association Studies, ATP Binding Cassette Transporter 1
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