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Genetic variants in cardiac calcification in Northern Sweden.
Medicine (Baltimore) 2019; 98(15):e15065M

Abstract

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 (PPi) and inorganic phosphate (Pi) 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 PPi and Pi 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 Pi and PPi 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 Pi and PPi metabolism.

Authors+Show Affiliations

Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden. Molecular & Clinical Sciences Research Institute, St. George University, London. Brunel University, Middlesex, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30985656

Citation

Hellman, Urban, et al. "Genetic Variants in Cardiac Calcification in Northern Sweden." Medicine, vol. 98, no. 15, 2019, pp. e15065.
Hellman U, Mörner S, Henein M. Genetic variants in cardiac calcification in Northern Sweden. Medicine (Baltimore). 2019;98(15):e15065.
Hellman, U., Mörner, S., & Henein, M. (2019). Genetic variants in cardiac calcification in Northern Sweden. Medicine, 98(15), pp. e15065. doi:10.1097/MD.0000000000015065.
Hellman U, Mörner S, Henein M. Genetic Variants in Cardiac Calcification in Northern Sweden. Medicine (Baltimore). 2019;98(15):e15065. PubMed PMID: 30985656.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic variants in cardiac calcification in Northern Sweden. AU - Hellman,Urban, AU - Mörner,Stellan, AU - Henein,Michael, PY - 2019/4/16/entrez PY - 2019/4/16/pubmed PY - 2019/4/23/medline SP - e15065 EP - e15065 JF - Medicine JO - Medicine (Baltimore) VL - 98 IS - 15 N2 - 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 (PPi) and inorganic phosphate (Pi) 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 PPi and Pi 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 Pi and PPi 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 Pi and PPi metabolism. SN - 1536-5964 UR - https://www.unboundmedicine.com/medline/citation/30985656/Genetic_variants_in_cardiac_calcification_in_Northern_Sweden L2 - http://Insights.ovid.com/pubmed?pmid=30985656 DB - PRIME DP - Unbound Medicine ER -