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...
Published in: | Atherosclerosis Plus |
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2022
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Online Access: | https://vbn.aau.dk/da/publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 https://doi.org/10.1016/j.athplu.2022.10.002 https://vbn.aau.dk/ws/files/503196575/Borg_et_al._2022_._Subclinical_atherosclerosis_determined_by_coronary_artery_calcium_deposition_in_patients_with_clinical_familial_hypercholesterolemia.pdf http://www.scopus.com/inward/record.url?scp=85142326965&partnerID=8YFLogxK https://www.sciencedirect.com/science/article/pii/S2667089522000566 |
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ftalborgunivpubl:oai:pure.atira.dk:publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 2024-06-23T07:52:39+00:00 Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia Borg, Sanna á Bork, Christian Sørensen Nielsen, Michael René Skjelbo Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Schmidt, Erik Berg Joensen, Albert Marni 2022-12-01 application/pdf https://vbn.aau.dk/da/publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 https://doi.org/10.1016/j.athplu.2022.10.002 https://vbn.aau.dk/ws/files/503196575/Borg_et_al._2022_._Subclinical_atherosclerosis_determined_by_coronary_artery_calcium_deposition_in_patients_with_clinical_familial_hypercholesterolemia.pdf http://www.scopus.com/inward/record.url?scp=85142326965&partnerID=8YFLogxK https://www.sciencedirect.com/science/article/pii/S2667089522000566 eng eng https://vbn.aau.dk/da/publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 info:eu-repo/semantics/openAccess Borg , S Á , Bork , C S , Nielsen , M R S , Jóanesarson , J , Zaremba , T , Lolas , I B Y , Lundbye-Christensen , S , Søgaard , P , Schmidt , E B & Joensen , A M 2022 , ' Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia ' , Atherosclerosis Plus , vol. 50 , pp. 65-71 . https://doi.org/10.1016/j.athplu.2022.10.002 article 2022 ftalborgunivpubl https://doi.org/10.1016/j.athplu.2022.10.002 2024-06-10T15:18:48Z 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. Article in Journal/Newspaper Faroe Islands Aalborg University's Research Portal Faroe Islands Atherosclerosis Plus 50 65 71 |
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Open Polar |
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Aalborg University's Research Portal |
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ftalborgunivpubl |
language |
English |
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 |
Article in Journal/Newspaper |
author |
Borg, Sanna á Bork, Christian Sørensen Nielsen, Michael René Skjelbo Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Schmidt, Erik Berg Joensen, Albert Marni |
spellingShingle |
Borg, Sanna á Bork, Christian Sørensen Nielsen, Michael René Skjelbo Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Schmidt, Erik Berg Joensen, Albert Marni Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
author_facet |
Borg, Sanna á Bork, Christian Sørensen Nielsen, Michael René Skjelbo Jóanesarson, Jan Zaremba, Tomas Lolas, Ihab Bishara Yousef Lundbye-Christensen, Søren Søgaard, Peter Schmidt, Erik Berg Joensen, Albert Marni |
author_sort |
Borg, Sanna á |
title |
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_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_sort |
subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia |
publishDate |
2022 |
url |
https://vbn.aau.dk/da/publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 https://doi.org/10.1016/j.athplu.2022.10.002 https://vbn.aau.dk/ws/files/503196575/Borg_et_al._2022_._Subclinical_atherosclerosis_determined_by_coronary_artery_calcium_deposition_in_patients_with_clinical_familial_hypercholesterolemia.pdf http://www.scopus.com/inward/record.url?scp=85142326965&partnerID=8YFLogxK https://www.sciencedirect.com/science/article/pii/S2667089522000566 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
Borg , S Á , Bork , C S , Nielsen , M R S , Jóanesarson , J , Zaremba , T , Lolas , I B Y , Lundbye-Christensen , S , Søgaard , P , Schmidt , E B & Joensen , A M 2022 , ' Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia ' , Atherosclerosis Plus , vol. 50 , pp. 65-71 . https://doi.org/10.1016/j.athplu.2022.10.002 |
op_relation |
https://vbn.aau.dk/da/publications/955ae7eb-15f8-4ab6-aa5d-249d52d8f499 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1016/j.athplu.2022.10.002 |
container_title |
Atherosclerosis Plus |
container_volume |
50 |
container_start_page |
65 |
op_container_end_page |
71 |
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1802644019142983680 |