ORPHA: 182067; MONDO: 0013097;
Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38) : 5:1-4,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5p15.33 | {Glioma susceptibility 8} | 613033 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) conducted a metaanalysis of 2 glioma genomewide association studies by genotyping 550,000 tagged SNPs in a total of 1,878 cases and 3,670 controls, with validation in 3 additional independent series totaling 2,545 cases and 2,953 controls. They observed significant association of a single-nucleotide polymorphism (SNP), rs2736100 (OR = 1.27, 95% CI 1.19-1.37, combined P = 1.50 x 10(-17)) at chromosome 5p15.33 in intron 2 of the TERT gene (187270). TERT encodes the reverse transcriptase component of telomerase, essential for telomerase activity in maintaining telomeres and cell immortalization.
Shete, S., Hosking, F. J., Robertson, L. B., Dobbins, S. E., Sanson, M., Malmer, B., Simon, M., Marie, Y., Boisselier, B., Delattre, J.-V., Hoang-Xuan, K., El Hallani, S., and 25 others. Genome-wide association study identifies five susceptibility loci for glioma. Nature Genet. 41: 899-904, 2009. [PubMed: 19578367] [Full Text: https://doi.org/10.1038/ng.407]