Figure 1
From: Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
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.
