rs723527

This variant is located in the EGFR gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

central nervous system cancer, glioblastoma multiforme

Melin BS et al. “Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.” Nature Genetics 49(5):789-794 (2017)

Allele A

OR 1.25

p 5.0e-23

N 24,381

Large GWAS

European

age at onset, glioblastoma multiforme

Quinn T. Ostrom et al. “Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age” International Journal of Cancer (2018)

Allele A

OR 1.32

p 2.0e-11

N 15,094

Large GWAS

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Research that mentions this SNP (1)

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Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age

AssociationN=15,094Quinn T. Ostrom et al.(2018)· International Journal of Cancer

Age-stratified genome-wide association study of 4,512 glioblastoma cases and 10,582 controls identified age-specific genetic effects on disease susceptibility. SNPs at 7p11.2 (rs723527, rs11979158 near EGFR) showed increased association in older individuals (age 54+, OR=1.28-1.42), while a lower-grade glioma-associated SNP at 8q24.21 (rs55705857) was associated with younger diagnosis (age 18-53, OR=1.76, p=9.30×10−11). IDH1/2 mutations occurred in 15% of younger GBM cases versus 0.8-2.1% in older cases, suggesting many younger cases represent 'secondary GBM' with LGG-like features.

Traits studied:Age-at-diagnosis in glioblastomaGlioblastomaGlioma

PubMed DOI Metascience Observatory

About EGFR

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]