30 January 24

Investigating the Genetic Basis of Mitochondrial Dysfunction

A GWAS Study on mtDNA Copy Number

  • English

Mitochondrial DNA copy number (mtDNA-CN) serves as a crucial biomarker in diseases linked to mitochondrial dysfunction. In our newest GWAS on mitochondrial DNA copy number with 16,130 participants, we identified significant genetic loci at HBS1L and GSDMA genes associated with qPCR-measured mtDNA-CN.

This is currently the largest GWAS on mtDNA-CN measured by a highly standardized qPCR, involving a cohort of 16,130 participants across three studies: GCKD, AuGUR and our CHRIS study.

Experimental workflow of GWAS based on mtDNA-CN. DNA samples of 16,615 individuals was available for mtDNA-CN measurements via qPCR and genotyping from three studies (GCKD, German Chronic Kidney Disease; AugUR, Altersbezogene Untersuchungen zur Gesundheit der University of Regensburg; CHRIS, Cooperative Health Research in South Tyrol). After excluding those without determinable mtDNA-CN and those not passing the quality control (QC), GWAS was conducted for all three studies and additionally, a meta-analysis was performed in 16,130 individuals followed by post-GWAS analyses. Adjustment models are described within the flowchart using age, sex, principal components (PCs), erythrocyte counts (RBC), white blood cell counts (WBC), platelets (PLT), and smoking as covariates.

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