LMNAR644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulationin vitro

Abstract

SummaryThe R644C variant of lamin A is controversial, as it has been linked to multiple phenotypes in familial studies, but has also been identified in apparently healthy volunteers. Here we present data from a large midwestern US cohort showing that this variant associates genetically with hepatic steatosis, and with related traits in additional publicly available datasets, whilein vitrotesting demonstrated that this variant increased cellular lipid droplet accumulation. Taken together, these data support thisLMNAvariant’s potential pathogenicity in lipodystrophy and metabolic liver disease.