Article
Allele-specific DNA methylation reinforces PEAR1 enhancer activity.
Blood - 18 Aug 2016
Izzi Benedetta, Pistoni Mariaelena, Cludts Katrien, Akkor Pinar, Lambrechts Diether, Verfaillie Catherine, Verhamme Peter, Freson Kathleen, Hoylaerts Marc F
Abstract excerpt
Genetic variation in the PEAR1 locus is linked to platelet reactivity and cardiovascular disease. The major G allele of rs12041331, an intronic cytosine guanine dinucleotide-single-nucleotide polymorphism (CpG-SNP), is associated with higher PEAR1 expression in platelets and endothelial cells than the minor A allele. The molecular mechanism underlying this difference remains elusive. We have characterized the...
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