Article
The ENTPD1 promoter polymorphism -860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jul 2017
Maloney James P, Branchford Brian R, Brodsky Gary L, Cosmic Maxwell S, Calabrese David W, Aquilante Christina L, Maloney Kelly W, Gonzalez Joseph R, Zhang Weiming, Moreau Kerrie L, Wiggins Kerri L, Smith Nicholas L, Broeckel Ulrich, Di Paola Jorge
Abstract excerpt
Ectonucleoside triphosphate diphosphohydrolase 1 (NTPDase1) degrades the purines ATP and ADP that are key regulators of inflammation and clotting. We hypothesized that NTPDase1 polymorphisms exist and that they regulate this pathway. We sequenced the ENTPD1 gene (encoding NTPDase1) in 216 subjects then assessed genotypes in 2 cohorts comprising 2213 humans to identify ENTPD1 polymorphisms associated with venous...
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