An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels
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A polymorphism consisting of the presence or absence of a 250-bp DNA fragment was detected within the angiotensin I-converting enzyme gene (ACE) using the endothelial ACE cDNA probe. This polymorphism was used as a marker genotype in a study involving 80 healthy subjects, whose serum ACE levels were concomitantly measured. Allele frequencies were 0.6 for the shorter allele and 0.4 for the longer allele. A marked difference in serum ACE levels was observed between subjects in each of the three ACE genotype classes. Serum immunoreactive ACE concentrations were, respectively, 299.3 +/- 49, 392.6 +/- 66.8, and 494.1 +/- 88.3 micrograms/liter, for homozygotes with the longer allele (n = 14), and heterozygotes (n = 37) and homozygotes (n = 29) with the shorter allele. The insertion/deletion polymorphism accounted for 47% of the total phenotypic variance of serum ACE, showing that the ACE gene locus is the major locus that determines serum ACE concentration. Concomitant determination of the ACE genotype will improve discrimination between normal and abnormal serum ACE values by allowing comparison with a more appropriate reference interval.
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Serum levels of ACE1 are higher in the DD genotype compared with the II genotype.
“Furthermore, the ACE1 II genotype is protective against COVID-19 as compared to the ACE1 DD genotype (358), and serum levels of ACE1 are higher in the DD genotype compared with the II genotype (359).”
From IL-6 in inflammation, autoimmunity and cancer (2021) · cites this paper as [359]
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- Authors
- Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P., & Soubrier, F.
- Affiliations
- Inserm (FR)
- ORCID
- Soubrier, F
- Venue
- Journal of Clinical Investigation
- Published
- 1990-10-01
- Volume
- 86
- Issue
- 4
- Pages
- 1343-1346
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC296868
- OpenAlex
- W2097532633
- Cited by
- 3,767
- References
- 0
- Citations by year
- 2026: 30 · 2025: 44 · 2024: 74 · 2023: 64 · 2022: 77 · 2021: 101 · 2020: 89 · 2019: 70 · 2018: 88 · 2017: 81 · 2016: 102 · 2015: 103 · 2014: 127 · 2013: 150 · 2012: 154
- FWCI
- 11.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Renin-Angiotensin System Studies
- Health Sciences › Medicine › Genetics › Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- angiotensin-converting enzyme, ACE gene, insertion/deletion polymorphism, serum ACE levels, genetic polymorphism, allele frequency, genotype-phenotype correlation, reference values
- MeSH terms
- Adult, Chromosome Deletion, DNA, DNA Transposable Elements, Female, Genotype, Humans, Peptidyl-Dipeptidase A, Male, Middle Aged, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length
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