A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

ABSTRACT:

Background

Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist. We undertook a GWAS of qPCR-assayed mtDNA CN in the Avon Longitudinal Study of Parents and Children (ALSPAC) and the UK Blood Service (UKBS) cohort. After validating and harmonising data, 5461 ALSPAC mothers (16-43 years at mtDNA CN assay) and 1338 UKBS females (17-69 years) were included in a meta-analysis. Sensitivity analyses restricted to females with white cell-extracted DNA and adjusted for estimated or assayed cell proportions. Associations were also explored in ALSPAC children and UKBS males.

Results

A neutrophil-associated locus approached genome-wide significance (rs709591 [MED24

SUBMITTER: Guyatt AL 

PROVIDER: S-EPMC6357493 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature