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Sex-Specific Regulation of Mitochondrial DNA Levels: Genome-Wide Linkage Analysis to Identify Quantitative Trait Loci

Figure 3

Linkage analysis for mtDNA levels in males only.

The linkage signal detected in Chromosome 2 in the first analysis including the subjects of both sexes completely disappears in the analysis performed with males only. However, a new significant linkage signal for mtDNA levels is detected in Chromosome 1 only in males (LOD score of 2.81). Fine-mapping in this linkage region with 971 SNPs reveals the most significant SNP association with mtDNA levels for the rs10888838 (MAF = 0.1133; p = 4.01e-06) in the analysis with males only. This SNP was located in the gene MRPL37, which emerges as a strong candidate gene for the control of mtDNA levels in males.

Figure 3

doi: https://doi.org/10.1371/journal.pone.0042711.g003