Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis.
Lotte SlendersLennart P L LandsmeerKai CuiMarie A C DepuydtMaarten VerwerJoost MekkeNathalie TimmermanNoortje A M van den DungenJohan KuiperMenno P J de WintherKoen H M PrangeWei Feng MaClint T MillerRédouane AherrahrouMete CivelekGert J de BorstDominique P V de KleijnFolkert W. AsselbergsHester M den RuijterArjan BoltjesGerard PasterkampSander W van der LaanMichal MokryPublished in: European heart journal open (2021)
We discovered novel and known gene-cell pairs pointing to new biological mechanisms of atherosclerotic disease. We highlight that loci associated with CAD reveal prominent association levels in mainly plaque SMC and EC populations. We present an intuitive single-cell transcriptomics-driven workflow rooted in human large-scale genetic studies to identify putative candidate genes and affected cells associated with cardiovascular traits. Collectively, our workflow allows for the identification of cell-specific targets relevant for atherosclerosis and can be universally applied to other complex genetic diseases and traits.