Article
Functional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness.
European journal of human genetics : EJHG - 1 Nov 2018
Maskari Raya Al, Hardege Iris, Cleary Sarah, Figg Nicki, Li Ye, Siew Keith, Khir Ashraf, Yu Yong, Liu Pentao, Wilkinson Ian, O'Shaughnessy Kevin, Yasmin
Abstract excerpt
The recent genome-wide analysis of carotid-femoral pulse wave velocity (PWV) identified a significant locus within the 14q32.2 gene desert. Gene regulatory elements for the transcriptional regulator B-cell CLL/lymphoma 11B (BCL11B) are within this locus and an attractive target for the gene association. We investigated the functional impact of these gene desert SNPs on BCL11B transcript in human aorta to...
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