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:

• Chromosome: chromosome number
• Position: chromosomal position of the SNP
• MarkerName: chromosome:position-
• Allele1: effect allele
• Allele2: non-effect allele
• Freq1: frequency of allele 1
• FreqSE: frequency standard error
• Effect: genetic effect of allele 1
• StdErr: standard error of effect
• p.value: p-value
• Direction: direction of the genetic effect of allele 1 in GCKD, AugUR1, AugUR2 and CHRIS data, in this order. (+, increasing-effect; -, decreasing-effect and ?, not included in the study)
• HetISq: I square statistic
• HetChiSq: Q statistic
• HetDf: Qstat DF
• HetPVal: p-value for heterogeneity
• TotalN: number of samples

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.

Downloads

mtDNACN_GWAS
Samples:	16,130
Variants:	7,820,558
Phenotype:	mtDNA copy number
Covariates:	age, sex, and four principal components
Downloads:	mtDNACN_GWAS_2023-12-22.zip

Citations

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

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