Genetic variants in cardiac calcification in Northern Sweden
Extensive coronary calcification without significant stenosis, described as calcific coronary artery disease (CCAD) may cause abnormal myocardial perfusion and hence generalized ischemia. There is a discrepancy in the expression pattern of CCAD compared to the well-known atherosclerotic disease whic...
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ftpubmed:oai:pubmedcentral.nih.gov:6485867 2023-05-15T17:44:50+02:00 Genetic variants in cardiac calcification in Northern Sweden Hellman, Urban Mörner, Stellan Henein, Michael 2019-04-12 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485867/ http://www.ncbi.nlm.nih.gov/pubmed/30985656 https://doi.org/10.1097/MD.0000000000015065 en eng Wolters Kluwer Health http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485867/ http://www.ncbi.nlm.nih.gov/pubmed/30985656 http://dx.doi.org/10.1097/MD.0000000000015065 Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 CC-BY-NC-ND Research Article Text 2019 ftpubmed https://doi.org/10.1097/MD.0000000000015065 2019-06-02T00:11:06Z Extensive coronary calcification without significant stenosis, described as calcific coronary artery disease (CCAD) may cause abnormal myocardial perfusion and hence generalized ischemia. There is a discrepancy in the expression pattern of CCAD compared to the well-known atherosclerotic disease which raises questions about the exact pathophysiology of coronary calcification and whether there is a genetic etiology for it. In this pilot study we studied 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5’-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PP(i)) and inorganic phosphate (P(i)) metabolism, which may predispose to coronary arterial or valvular calcification. We studied 70 patients with calcific cardiac disease; 65 with CCAD (age 43–83 years) and 5 with calcific aortic valve disease (CAVD) (age 76–82 years). Five DNA variants potentially affecting protein function were found in 6 patients. One variant is a known disease-causing mutation in the ABCC6 gene. Our findings support that disturbances in the PP(i) and P(i) metabolism might influence the development of CCAD and CAVD. However, segregation in the families must first be performed to ascertain any damaging effect of these variants we have found. We report 4 new genetic variants potentially related to coronary calcification, through the disturbed P(i) and PP(i) metabolism. The search for direct causative genetic variants in coronary artery and aortic valve calcification must be broadened with other genes particularly those involved with P(i) and PP(i) metabolism. Text Northern Sweden PubMed Central (PMC) Medicine 98 15 e15065 |
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Research Article Hellman, Urban Mörner, Stellan Henein, Michael Genetic variants in cardiac calcification in Northern Sweden |
topic_facet |
Research Article |
description |
Extensive coronary calcification without significant stenosis, described as calcific coronary artery disease (CCAD) may cause abnormal myocardial perfusion and hence generalized ischemia. There is a discrepancy in the expression pattern of CCAD compared to the well-known atherosclerotic disease which raises questions about the exact pathophysiology of coronary calcification and whether there is a genetic etiology for it. In this pilot study we studied 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5’-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PP(i)) and inorganic phosphate (P(i)) metabolism, which may predispose to coronary arterial or valvular calcification. We studied 70 patients with calcific cardiac disease; 65 with CCAD (age 43–83 years) and 5 with calcific aortic valve disease (CAVD) (age 76–82 years). Five DNA variants potentially affecting protein function were found in 6 patients. One variant is a known disease-causing mutation in the ABCC6 gene. Our findings support that disturbances in the PP(i) and P(i) metabolism might influence the development of CCAD and CAVD. However, segregation in the families must first be performed to ascertain any damaging effect of these variants we have found. We report 4 new genetic variants potentially related to coronary calcification, through the disturbed P(i) and PP(i) metabolism. The search for direct causative genetic variants in coronary artery and aortic valve calcification must be broadened with other genes particularly those involved with P(i) and PP(i) metabolism. |
format |
Text |
author |
Hellman, Urban Mörner, Stellan Henein, Michael |
author_facet |
Hellman, Urban Mörner, Stellan Henein, Michael |
author_sort |
Hellman, Urban |
title |
Genetic variants in cardiac calcification in Northern Sweden |
title_short |
Genetic variants in cardiac calcification in Northern Sweden |
title_full |
Genetic variants in cardiac calcification in Northern Sweden |
title_fullStr |
Genetic variants in cardiac calcification in Northern Sweden |
title_full_unstemmed |
Genetic variants in cardiac calcification in Northern Sweden |
title_sort |
genetic variants in cardiac calcification in northern sweden |
publisher |
Wolters Kluwer Health |
publishDate |
2019 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485867/ http://www.ncbi.nlm.nih.gov/pubmed/30985656 https://doi.org/10.1097/MD.0000000000015065 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485867/ http://www.ncbi.nlm.nih.gov/pubmed/30985656 http://dx.doi.org/10.1097/MD.0000000000015065 |
op_rights |
Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
op_rightsnorm |
CC-BY-NC-ND |
op_doi |
https://doi.org/10.1097/MD.0000000000015065 |
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Medicine |
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98 |
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15 |
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e15065 |
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