Article
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B-AS1.
Human mutation - 1 Oct 2021
Ali Mourad Wagdy, Patro C Pawan K, Devall Matthew, Dampier Christopher H, Plummer Sarah J, Kuscu Cem, Adli Mazhar, Lai Rose K, Casey Graham
Abstract excerpt
Genome-wide association studies have identified SNPs associated with glioma risk on 9p21.3, but biological mechanisms underlying this association are unknown. We tested the hypothesis that a functional SNP on 9p21.3 affects activity of an enhancer, causing altered expression of nearby genes. We considered all SNPs in linkage disequilibrium with the 9p21.3 sentinel SNP rs634537 that mapped to putative enhancers....
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