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Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia
BACKGROUND AND AIMS: Limited knowledge exists regarding the association between coronary artery calcium (CAC) deposition in patients with clinical familial hypercholesterolemia (FH) and FH subtypes such as polygenic causes. We studied CAC score in patients with clinical FH and subtypes including pol...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833248/ https://www.ncbi.nlm.nih.gov/pubmed/36643796 http://dx.doi.org/10.1016/j.athplu.2022.10.002 |
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author | Borg, Sanna á Sørensen Bork, Christian Skjelbo Nielsen, Michael René Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Berg Schmidt, Erik Joensen, Albert Marni |
author_facet | Borg, Sanna á Sørensen Bork, Christian Skjelbo Nielsen, Michael René Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Berg Schmidt, Erik Joensen, Albert Marni |
author_sort | Borg, Sanna á |
collection | PubMed |
description | BACKGROUND AND AIMS: Limited knowledge exists regarding the association between coronary artery calcium (CAC) deposition in patients with clinical familial hypercholesterolemia (FH) and FH subtypes such as polygenic causes. We studied CAC score in patients with clinical FH and subtypes including polygenic causes of FH compared to healthy controls. METHODS: In a case-control study, we identified potential clinical FH cases registered with an LDL-C >6.7 mmol/l within a nationwide clinical laboratory database on the Faroe Islands and invited them for diagnostic evaluation according to clinical FH scoring systems. Controls were identified in the background population. All subjects were aged 18–75 years and without a history of cardiovascular disease. FH mutation testing and genotypes of twelve LDL-C associated single nucleotide polymorphisms were determined using conventional methods in selected individuals. CAC scores were assessed by cardiac CT. Odds ratios obtained using multivariate logistic regression were used as measures of association. RESULTS: A total of 120 clinical FH patients and 117 age- and sex-matched controls were recruited. We found a very low frequency of monogenic FH (3%), but a high level of polygenic FH (60%) in those genetically tested (54%). There was a statistically significant association between the CAC score and a diagnosis of clinical FH with the highest observed odds ratio of 5.59 (95% CI 1.65; 18.94, p = 0.006) in those with a CAC score ≥300 compared to those with a CAC of zero. In supplemental analyses, there was a strong association between CAC scores and clinical FH of a polygenic cause. CONCLUSION: We found a statistically significant association between CAC levels and clinical FH with the highest observed risk estimates among clinical FH cases of a presumed polygenic cause. |
format | Online Article Text |
id | pubmed-9833248 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-98332482023-01-12 Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia Borg, Sanna á Sørensen Bork, Christian Skjelbo Nielsen, Michael René Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Berg Schmidt, Erik Joensen, Albert Marni Atheroscler Plus Full Length Article BACKGROUND AND AIMS: Limited knowledge exists regarding the association between coronary artery calcium (CAC) deposition in patients with clinical familial hypercholesterolemia (FH) and FH subtypes such as polygenic causes. We studied CAC score in patients with clinical FH and subtypes including polygenic causes of FH compared to healthy controls. METHODS: In a case-control study, we identified potential clinical FH cases registered with an LDL-C >6.7 mmol/l within a nationwide clinical laboratory database on the Faroe Islands and invited them for diagnostic evaluation according to clinical FH scoring systems. Controls were identified in the background population. All subjects were aged 18–75 years and without a history of cardiovascular disease. FH mutation testing and genotypes of twelve LDL-C associated single nucleotide polymorphisms were determined using conventional methods in selected individuals. CAC scores were assessed by cardiac CT. Odds ratios obtained using multivariate logistic regression were used as measures of association. RESULTS: A total of 120 clinical FH patients and 117 age- and sex-matched controls were recruited. We found a very low frequency of monogenic FH (3%), but a high level of polygenic FH (60%) in those genetically tested (54%). There was a statistically significant association between the CAC score and a diagnosis of clinical FH with the highest observed odds ratio of 5.59 (95% CI 1.65; 18.94, p = 0.006) in those with a CAC score ≥300 compared to those with a CAC of zero. In supplemental analyses, there was a strong association between CAC scores and clinical FH of a polygenic cause. CONCLUSION: We found a statistically significant association between CAC levels and clinical FH with the highest observed risk estimates among clinical FH cases of a presumed polygenic cause. Elsevier 2022-11-11 /pmc/articles/PMC9833248/ /pubmed/36643796 http://dx.doi.org/10.1016/j.athplu.2022.10.002 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Full Length Article Borg, Sanna á Sørensen Bork, Christian Skjelbo Nielsen, Michael René Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Berg Schmidt, Erik Joensen, Albert Marni Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title | Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title_full | Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title_fullStr | Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title_full_unstemmed | Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title_short | Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
title_sort | subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
topic | Full Length Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833248/ https://www.ncbi.nlm.nih.gov/pubmed/36643796 http://dx.doi.org/10.1016/j.athplu.2022.10.002 |
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