Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus

PLoS Genet. 2018 Nov 16;14(11):e1007755. doi: 10.1371/journal.pgen.1007755. eCollection 2018 Nov.

Abstract

Recent genome-wide association studies (GWAS) have identified multiple new loci which appear to alter coronary artery disease (CAD) risk via arterial wall-specific mechanisms. One of the annotated genes encodes LMOD1 (Leiomodin 1), a member of the actin filament nucleator family that is highly enriched in smooth muscle-containing tissues such as the artery wall. However, it is still unknown whether LMOD1 is the causal gene at this locus and also how the associated variants alter LMOD1 expression/function and CAD risk. Using epigenomic profiling we recently identified a non-coding regulatory variant, rs34091558, which is in tight linkage disequilibrium (LD) with the lead CAD GWAS variant, rs2820315. Herein we demonstrate through expression quantitative trait loci (eQTL) and statistical fine-mapping in GTEx, STARNET, and human coronary artery smooth muscle cell (HCASMC) datasets, rs34091558 is the top regulatory variant for LMOD1 in vascular tissues. Position weight matrix (PWM) analyses identify the protective allele rs34091558-TA to form a conserved Forkhead box O3 (FOXO3) binding motif, which is disrupted by the risk allele rs34091558-A. FOXO3 chromatin immunoprecipitation and reporter assays show reduced FOXO3 binding and LMOD1 transcriptional activity by the risk allele, consistent with effects of FOXO3 downregulation on LMOD1. LMOD1 knockdown results in increased proliferation and migration and decreased cell contraction in HCASMC, and immunostaining in atherosclerotic lesions in the SMC lineage tracing reporter mouse support a key role for LMOD1 in maintaining the differentiated SMC phenotype. These results provide compelling functional evidence that genetic variation is associated with dysregulated LMOD1 expression/function in SMCs, together contributing to the heritable risk for CAD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Autoantigens / genetics*
  • Autoantigens / metabolism
  • Becaplermin / metabolism
  • Binding Sites / genetics
  • Cells, Cultured
  • Chromosome Mapping
  • Coronary Artery Disease / etiology
  • Coronary Artery Disease / genetics*
  • Coronary Artery Disease / metabolism
  • Coronary Vessels / metabolism
  • Cytoskeletal Proteins / antagonists & inhibitors
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism
  • Disease Models, Animal
  • Forkhead Box Protein O3 / metabolism
  • Gene Knockdown Techniques
  • Genome-Wide Association Study
  • Humans
  • Linkage Disequilibrium
  • Male
  • Mice
  • Mice, Transgenic
  • Models, Cardiovascular
  • Muscle Proteins / deficiency
  • Muscle Proteins / genetics
  • Myocytes, Smooth Muscle / metabolism*
  • Protein Binding
  • Quantitative Trait Loci
  • Risk Factors

Substances

  • Autoantigens
  • Cytoskeletal Proteins
  • FOXO3 protein, human
  • Forkhead Box Protein O3
  • LMOD1 protein, human
  • Muscle Proteins
  • leiomodin protein, mouse
  • Becaplermin