SH3BP4 and obesity due to melanocortin 4 receptor deficiency: We specifically focused on the DNA methylation of cg19998400 at the SH3BP4 locus (herein referred to as SH3BP4 methylation), as our data suggested a potential causal relationship with mtDNAq, in contrast to cg17468563 methylation at DHRS3. Among a set of 35 obesity-related traits, six showed significant association only with mtDNAq, four with SH3BP4 methylation, and 14 with both mtDNAq and SH3BP4 methylation (FDR < 0.05) (Fig. 4 and Supplementary Tables 6, 7).