Ali R Keramati, Ming-Huei Chen, Benjamin A T Rodriguez, Lisa R Yanek, Arunoday Bhan, Brady J Gaynor, Kathleen Ryan, Jennifer A Brody, Xue Zhong, Qiang Wei, Kai Kammers, Kanika Kanchan, Kruthika Iyer, Madeline H Kowalski, Achilleas N Pitsillides, L Adrienne Cupples, Bingshan Li, Thorsten M Schlaeger, Alan R Shuldiner, Jeffrey R O'Connell, Ingo Ruczinski, Braxton D Mitchell, Nauder Faraday, Margaret A Taub, Lewis C Becker, Joshua P Lewis, Rasika A Mathias, Andrew D Johnson
Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach in 3,855 NHLBI Trans-Omics for Precision Medicine (TOPMed) participants deeply phenotyped for platelet aggregation. We identify the RGS18 locus, which encodes a myeloerythroid lineage-specific regulator of G-protein signaling that co-localizes with expression quantitative trait loci (eQTL) signatures for RGS18 expression in platelets...
June 15, 2021: Nature Communications