Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
24 Jan 2024
24 Jan 2024
Historique:
received:
29
08
2023
accepted:
17
01
2024
medline:
25
1
2024
pubmed:
25
1
2024
entrez:
24
1
2024
Statut:
epublish
Résumé
Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association studies (GWAS) have been performed to unravel underlying mechanisms of mtDNA-CN regulation. However, the identified gene regions explain only a small fraction of mtDNA-CN variability. Most of this data has been estimated from microarrays based on various pipelines. In the present study we aimed to (1) identify genetic loci for qPCR-measured mtDNA-CN from three studies (16,130 participants) using GWAS, (2) identify potential systematic differences between our qPCR derived mtDNA-CN measurements compared to the published microarray intensity-based estimates, and (3) disentangle the nuclear from mitochondrial regulation of the mtDNA-CN phenotype. We identified two genome-wide significant autosomal loci associated with qPCR-measured mtDNA-CN: at HBS1L (rs4895440, p = 3.39 × 10
Identifiants
pubmed: 38267512
doi: 10.1038/s41598-024-52373-0
pii: 10.1038/s41598-024-52373-0
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2083Subventions
Organisme : Austrian Science Fund (Fonds zur Förderung der Wissenschaftlichen Forschung)
ID : W-1253 DK HOROS
Organisme : EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj)
ID : FESR1157
Organisme : Deutsche Forschungsgemeinschaft (German Research Foundation)
ID : HE 3690/7-1
Organisme : Deutsche Forschungsgemeinschaft (German Research Foundation)
ID : HE 3690/5-1
Informations de copyright
© 2024. The Author(s).
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