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Genetic variant rs11607019 in SIRT3 regulate gene expression in human cells

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE299443 | GEO | 2025/06/11

REPOSITORIES: GEO

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SIRT3 opposes metabolic reprogramming of cancer cells through HIF1a destabilization

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