Rare TP53 genetic variant associated with glioma risk and outcome.
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.
Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA. kathleen.egan@moffitt.org
Kathleen M
KM
Egan
L Burton
LB
Nabors
Jeffrey J
JJ
Olson
Alvaro N
AN
Monteiro
James E
JE
Browning
Melissa H
MH
Madden
Reid C
RC
Thompson
D000483:Alleles; D016022:Case-Control Studies; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005910:Glioma / Q000235:genetics* / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000378:metabolism
C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53