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Genetic variants in cardiac calcification in Northern Sweden
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin.ORCID-id: 0000-0002-3822-0725
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin.
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin. Molecular & Clinical Sciences Research Institute, St. George University, London; Brunel University, Middlesex, UK.
2019 (engelsk)Inngår i: Medicine (Baltimore, Md.), ISSN 0025-7974, E-ISSN 1536-5964, Vol. 98, nr 15, artikkel-id e15065Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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.

sted, utgiver, år, opplag, sider
Wolters Kluwer, 2019. Vol. 98, nr 15, artikkel-id e15065
Emneord [en]
arterial calcification, coronary artery disease, gene
HSV kategori
Forskningsprogram
kardiologi
Identifikatorer
URN: urn:nbn:se:umu:diva-158611DOI: 10.1097/MD.0000000000015065ISI: 000467331500017PubMedID: 30985656Scopus ID: 2-s2.0-85064852879OAI: oai:DiVA.org:umu-158611DiVA, id: diva2:1313237
Tilgjengelig fra: 2019-05-02 Laget: 2019-05-02 Sist oppdatert: 2019-06-18bibliografisk kontrollert

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Hellman, UrbanMörner, StellanHenein, Michael

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