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Rare TP53 genetic variant associated with glioma risk and outcome.

ABSTRACT: Validation of a recent finding linking a rare variant in TP53 to the risk of glioma, the most common primary brain tumour, is reported here. This study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls. The variant 'C' allele (with an allelic frequency of 1.1% in controls) was associated with a 3.5-fold excess in glioma risk (odds ratio 3.54; p=0.0001). Variant carriers had significantly improved survival (hazard ratio 0.52; p=0.009) when compared to non-carriers. The rs78378222 SNP is the first confirmed rare susceptibility variant in glioma. Results may shed light on the aetiology and progression of these tumours.

SUBMITTER: Egan KM

PROVIDER: S-EPMC3576847 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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Rare TP53 genetic variant associated with glioma risk and outcome.

Egan Kathleen M KM Nabors L Burton LB Olson Jeffrey J JJ Monteiro Alvaro N AN Browning James E JE Madden Melissa H MH Thompson Reid C RC

Journal of medical genetics 20120615 7

Validation of a recent finding linking a rare variant in TP53 to the risk of glioma, the most common primary brain tumour, is reported here. This study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls. The variant 'C' allele (with an allelic frequency of 1.1% in controls) was associated with a 3.5-fold excess in glioma risk (odds ratio 3.54; p=0.0001). Variant carriers had significantly improved survival (hazard ratio 0.52; p=0.009) when compared ...[more]

PMID: 22706378

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