Meta-analysis of GWAS on mtDNA copy number

We performed GWAS for mtDNA copy number in three large cohorts (CHRIS, GCKD and AugUR). In total, data from 16,130 individuals were meta-analyzed (7,820,558 SNPs). The main model was adjusted for age, sex, and four principal components.

Short description of the columns included in the file:

These summary statistics include only variants for which at least two studies contributed results and results were filtered using a MAF > 0.01. Additionally, the data is presented with restricted precision.

The sample size and precision of the data presented should preclude de-identification of any individual subject. However, in downloading these data, you undertake not to attempt to de-identify individual subjects.


Samples: 16,130
Variants: 7,820,558
Phenotype: mtDNA copy number
Covariates: age, sex, and four principal components


If you use this data, please cite:

Koller A, Filosi M, Weissensteiner H, Fazzini F, Gorski M, Pattaro C, Schönherr S, Forer L, Herold JM, Stark KJ, Döttelmayer P, Hicks AA, Pramstaller PP, Würzner R, Eckardt KU, Heid IM, Fuchsberger C, Lamina C, Kronenberg F: Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number. Sci Rep 14:2083, 2024. PMID: 38267512   Journal Article


Adriana Koller, MSc.
PhD Student

+43 512 9003 70582
Florian Kronenberg, MD, MAE
Full Professor

+43 512 9003 70560