LMNA R644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulation in vitro
Upadhyay, K. K.; Du, X.; Chen, Y.; Speliotes, E. K.; Brady, G. F.
Show abstract
The 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, while in vitro testing demonstrated that this variant increased cellular lipid droplet accumulation. Taken together, these data support this LMNA variants potential pathogenicity in lipodystrophy and metabolic liver disease.
Matching journals
The top 9 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Leveraging Health Systems Data to Characterize a Large Effect Variant Conferring Risk for Liver Disease in Puerto Ricans 93%
- Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish 91%
- Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity 91%
Similar papers in this journal
- GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms 94%
- Autocrine IL11 cis-signaling in hepatocytes is an initiating nexus between lipotoxicity and non-alcoholic steatohepatitis 92%
- A sexually dimorphic hepatic cycle of periportal VLDL generation and subsequent pericentral VLDLR-mediated lipoprotein re-uptake 92%
Similar papers in this journal
- Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers 90%
- Genome-wide association study reveals shared and distinct genetic architecture underlying fatty acid and bioactive oxylipin metabolites in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) 90%
- Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity 89%
Similar papers in this journal
- A genome-wide association study of chronic ALT-based non-alcoholic fatty liver disease in the Million Veteran Program with histological and radiological validation 94%
- A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1 91%
- Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes 91%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.