Genetic variant rs11607019 in SIRT3 regulate gene expression in human cells

SIRT3 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. To investigate the genome-wide transcriptional effects of this variant, we performed site-directed mutagenesis experiments. Our results demonstrate that rs11607019 upregulates GABRE, COL12A1, PLEKHG4B, and SERF1B, while downregulating APOBEC3G in human embryonic kidney cells. These 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. Overall design: RNA-seq profiling of wild-type HEK293 cells and their rs11607019 variants (T-to-C mutation) under basal culture conditions.