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ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules

5 Dec 2023

Abstract excerpt

Worldwide, over 800 million people are affected by kidney disease, yet its pathogenesis remains elusive, hindering the development of novel therapeutics. In this study, we used kidney-specific expression of quantitative traits and single-nucleus open chromatin analysis to show that genetic variants linked to kidney dysfunction on chromosome 20 target the acyl-CoA synthetase short-chain family 2 (ACSS2). By...

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PMID: 38051585
DOI: 10.1172/jci172963

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