Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Our gene prioritization approach identified seven of 16 mtDNA depletion genes (Supplemental Table 13), consistent with a highly significant enrichment (one-sided p = 3.09 × 10 –15 ).

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After multiple testing corrections, one of these SNPs was significant (rs73349121, p = 0.0001), 9 were nominally significant ( p < 0.05, with 5 expected), and 58/99 had a direction of effect that was consistent with the Whites-only analyses (one-sided p = 0.04, Fig. 2 ).

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