Article
A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.
Cell - 27 Jul 2017
Gupta Rajat M, Hadaya Joseph, Trehan Aditi, Zekavat Seyedeh M, Roselli Carolina, Klarin Derek, Emdin Connor A, Hilvering Catharina R E, Bianchi Valerio, Mueller Christian, Khera Amit V, Ryan Russell J H, Engreitz Jesse M, Issner Robbyn, Shoresh Noam, Epstein Charles B, de Laat Wouter, Brown Jonathan D, Schnabel Renate B, Bernstein Bradley E, Kathiresan Sekar
Abstract excerpt
Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. Through genetic fine mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the putative causal variant. Epigenomic data from human tissue...
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