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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes. | LitMetric

AI Article Synopsis

  • Researchers studied how thick the inside of certain arteries are and the buildup of plaque in those arteries, which are important for understanding heart problems and strokes.
  • They analyzed data from over 71,000 people for artery thickness and nearly 49,000 for plaque to find new genes related to these issues.
  • The study showed connections between the thickness of arteries, plaque buildup, different types of strokes, and heart disease, helping to understand the genetic factors behind these health problems.

Article Abstract

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277418PMC
http://dx.doi.org/10.1038/s41467-018-07340-5DOI Listing

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