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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy
Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis, Volume 31, No. 6, Year 2020
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Description
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. © 2020 Informa UK Limited, trading as Taylor & Francis Group.
Authors & Co-Authors
Hagen, Christian Munch
Denmark, Copenhagen
Statens Serum Institut
Denmark, Copenhagen
Københavns Universitet
Elson, Joanna L.
Denmark, Copenhagen
Statens Serum Institut
United Kingdom, Newcastle
Newcastle University
Hedley, P. L.
Denmark, Copenhagen
Statens Serum Institut
Aidt, Frederik Heurlin
Denmark, Copenhagen
Statens Serum Institut
Havndrup, Ole
Denmark, Roskilde
Roskilde Sygehus
Kvistholm Jensen, Morten Kvistholm
Denmark, Copenhagen
Heart Center
Kanters, Jörgen Kim
Denmark, Copenhagen
Københavns Universitet
Atherton, John James
Australia, Brisbane
Royal Brisbane and Women's Hospital
McGaughran, Julie M.
Australia, Brisbane
Royal Children's Hospital Brisbane
Bundgaard, Henning
Denmark, Copenhagen
Heart Center
Christiansen, Michael
Denmark, Copenhagen
Statens Serum Institut
Denmark, Copenhagen
Københavns Universitet
Statistics
Citations: 2
Authors: 11
Affiliations: 7
Identifiers
Doi:
10.1080/24701394.2020.1782897
ISSN:
24701394
Research Areas
Genetics And Genomics