Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis

Jörg Hager, Yoichiro Kamatani, Jean-Baptiste Cazier, Sonia Youhanna, Michella Ghassibe-Sabbagh, Daniel E Platt, Antoine B Abchee, Jihane Romanos, Georges Khazen, Raed Othman, Danielle A Badro, Marc Haber, Angelique K Salloum, Bouchra Douaihy, Nabil Shasha, Samer Kabbani, Hana Sbeite, Elie Chammas, Hamid el Bayeh, Francis RousseauDiana Zelenika, Ivo Gut, Mark Lathrop, Martin Farrall, Dominique Gauguier, Pierre A Zalloua, FGENTCARD Consortium

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35 Citations (Scopus)


The manifestation of coronary artery disease (CAD) follows a well-choreographed series of events that includes damage of arterial endothelial cells and deposition of lipids in the sub-endothelial layers. Genome-wide association studies (GWAS) of multiple populations with distinctive genetic and lifestyle backgrounds are a crucial step in understanding global CAD pathophysiology. In this study, we report a GWAS on the genetic basis of arterial stenosis as measured by cardiac catheterization in a Lebanese population. The locus of the phosphatase and actin regulator 1 gene (PHACTR1) showed association with coronary stenosis in a discovery experiment with genome wide data in 1,949 individuals (rs9349379, OR = 1.37, p = 1.57×10(-5)). The association was replicated in an additional 2,547 individuals (OR = 1.31, p = 8.85×10(-6)), leading to genome-wide significant association in a combined analysis (OR = 1.34, p = 8.02×10(-10)). Results from this GWAS support a central role of PHACTR1 in CAD susceptibility irrespective of lifestyle and ethnic divergences. This association provides a plausible component for understanding molecular mechanisms involved in the formation of stenosis in cardiac vessels and a potential drug target against CAD.

Original languageEnglish
Pages (from-to)e38663
JournalPLoS ONE
Issue number6
Publication statusPublished - 2012


  • Coronary Stenosis
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Lebanon
  • Microfilament Proteins
  • Polymorphism, Single Nucleotide


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