Genetic variants in cardiac calcification in Northern Sweden

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: id:"swepub:oai:DiVA.org:umu-158611" > Genetic variants in...

1 of 1
Previous record
Next record
To hitlist

Details
MARC

Hellman, Urban,1966-Umeå universitet,Avdelningen för medicin (author)

Genetic variants in cardiac calcification in Northern Sweden

Article/chapterEnglish2019

Publisher, publication year, extent ...

Wolters Kluwer,2019
electronicrdacarrier

Numbers

LIBRIS-ID:oai:DiVA.org:umu-158611
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-158611URI
https://doi.org/10.1097/MD.0000000000015065DOI

Supplementary language notes

Language:English
Summary in:English

Part of subdatabase

SwePubSwePub

Classification

Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Kardiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cardiac and Cardiovascular Systems hsv//eng
arterial calcification
coronary artery disease
gene
Cardiology
kardiologi

Added entries (persons, corporate bodies, meetings, titles ...)

Mörner, StellanUmeå universitet,Avdelningen för medicin(Swepub:umu)stmo0005 (author)
Henein, MichaelUmeå universitet,Avdelningen för medicin,Molecular & Clinical Sciences Research Institute, St. George University, London; Brunel University, Middlesex, UK(Swepub:umu)mihe0015 (author)
Umeå universitetAvdelningen för medicin (creator_code:org_t)

Related titles

In:Medicine: Wolters Kluwer98:150025-79741536-5964

Internet link

Find in a library

Medicine (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Hellman, Urban, ...; Mörner, Stellan; Henein, Michael

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cardiac and Card ...

Articles in the publication: Medicine

By the university: Umeå University

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se