Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Dabigatran and The Risk of Staphylococcus Aureus Bacteremia- A Nationwide Cohort Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Mid-regional pro-atrial natriuretic peptide levels before and after hemodialysis predict long-term prognosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Danish Citizen´s Preferences for at-home Oropharyngeal/nasal SARS-CoV-2 Specimen Collection

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Anti-biofilm Approach in Infective Endocarditis Exposes New Treatment Strategies for Improved Outcome

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

Vis graf over relationer

Mitochondrial DNA (mtDNA) haplogroup (hg) H has been reported as a susceptibility factor for hypertrophic cardiomyopathy (HCM). This was established in genetic association studies, however, the SNP or SNP's that are associated with the increased risk have not been identified. Hg H is the most frequent European mtDNA hg with greater than 80 subhaplogroups (subhgs) each defined by specific SNPs. We tested the hypothesis that the distribution of H subhgs might differ between HCM patients and controls. The subhg H distribution in 55 HCM index cases was compared to that of two Danish mtDNA hg H control groups (n = 170 and n = 908, respectively). In the HCM group, H and 12 different H subhgs were found. All these, except subhgs H73, were also found in both control groups. The HCM group was also characterized by a higher proportion of H3 compared to H2. In the HCM group the H3/H2 proportion was 1.7, whereas it was 0.45 and 0.54 in the control groups. This tendency was replicated in an independent group of Hg H HCM index cases (n = 39) from Queensland, Australia, where the H3/H2 ratio was 1.5. In conclusion, the H subhgs distribution differs between HCM cases and controls, but the difference is subtle, and the understanding of the pathogenic significance is hampered by the lack of functional studies on the subhgs of H.

OriginalsprogEngelsk
TidsskriftMitochondrial DNA. Part A, DNA mapping, sequencing, and analysis
Vol/bind31
Udgave nummer6
Sider (fra-til)238-244
Antal sider7
ISSN2470-1394
DOI
StatusUdgivet - aug. 2020

ID: 62092796