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Article

A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes.

Human mutation - 1 Jan 2021

Ali Mourad Wagdy, Patro C Pawan K, Zhu Jacqueline Jufen, Dampier Christopher H, Plummer Sarah J, Kuscu Cem, Adli Mazhar, Lau Ching, Lai Rose K, Casey Graham

Abstract excerpt

Genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) associated with glioma risk on 20q13.33, but the biological mechanisms underlying this association are unknown. We tested the hypothesis that a functional SNP on 20q13.33 impacted the activity of an enhancer, leading to an altered expression of nearby genes. To identify candidate functional SNPs, we identified all SNPs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33169458
DOI: 10.1002/humu.24134
PMCID: PMC7839675

Genes

RTEL1
STMN3
IDH1
TNFRSF6B

Provenance

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