Sirtuin 3 with rs11607019 regulates gene expression in 293 cells

BackgroundSIRT3 is a NAD+ dependent deacetylase located in mitochondria and plays a critical role in various biological processes such as aging and cancer. Recent GWAS analyses have identified an intronic SNP, rs11607019, that significantly influences platelet function. MethodsTo investigate the genome-wide transcriptional effects of this variant, we performed site-directed mutagenesis experiments. ResultsOur results demonstrate that rs11607019 upregulates GABRE, COL12A1, PLEKHG4B, and SERF1B, while downregulating APOBEC3G in 293 cells, without cell tumor mutational burden karyotype phenotype. ConclusionThese findings suggest that rs11607019 is a strong candidate locus for blood cell phenotyping and may warrant further investigation in relation to kidney-related diseases in latent populations.