Genome-wide association study

Mitochondrial DNA

Bioinformatics

Biology

Gene

Genotype

Single-nucleotide polymorphism

Haplogroup

Haplotype

Mendelian randomization

Mitochondrion

Genetic variants

Genetics

eLife

Mitochondrial DNA copy number (mtDNA-CN) is an accessible blood-based measurement believed to capture underlying mitochondrial (MT) function. The specific biological processes underpinning its regulation, and whether those processes are causative for disease, is an area of active investigation.

GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia