This study uses multiple functional genomic approaches to identify and characterize cis-regulatory elements (CREs) influencing LDLR expression, revealing overlapping yet distinct CREs across methods.

bioRxiv · Oct 25, 2026 · PreprintGenomics

The impact of low-frequency genetic variants on serum protein levels

Heida Bjarnadottir, Þórarinn Jónmundsson, Hulda K Ingvarsdottir, Elisabet Alexandra Frick, Nancy Finkel, Joseph Loureiro, Lenore J. Launer, Thor Aspelund, Yanhua Chen, Elizabeth K. Speliotes, Anthony P. Orth, Albert V. Smith, Valur Emilsson, Vilmundur G. Gudnason, Valborg Gudmundsdottir

This study identifies low-frequency genetic variants influencing serum protein levels, showing increased genetic signals and allelic heterogeneity in cis-regulation.

bioRxiv · Mar 18, 2026 · PreprintGenomics

Functional interrogation of cellular Lp(a) uptake by genome-scale CRISPR screening

Taslima Gani Khan, Juliana Bragazzi Cunha, Chinmay Raut, Michael Burroughs, Hitarthi Vyas, Kyle Leix, Sascha N. Goonewardena, Alan V. Smrcka, Elizabeth K. Speliotes, Brian T. Emmer

This study uses genome-scale CRISPR screening to identify LDLR and MYLIP as key regulators of Lp(a) uptake in HuH7 cells, with validation in a UK Biobank cohort.

Atherosclerosis · Mar 22, 2025Peer-reviewedGenetics

LMNA R644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulation in vitro

Kapil K. Upadhyay, Yanhua Chen, Xiaomeng Du, Lishi Yin, Chinmay Raut, Elizabeth K. Speliotes, Graham F. Brady

Gastro Hep Advances · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine