Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:0-4,400,000▼ MappingWorking from the hypothesis that coinheritance of low-risk variants contrib...
Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:0-4,400,000
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.