Table 1.
SNP | rs1412829 | rs6010620 | rs4809324 |
Chromosome | 9 | 20 | 20 |
Position | 22033926 | 61780283 | 61788664 |
Gene Symbol | RTEL1 | RTEL1 | |
Minor Allele | C | A | C |
A. Discovery set: 692 UCSF AGS and TCGA cases and 3992 AGS and iControls | |||
Number genotyped | |||
Cases | 692 | 692 | 692 |
Controls | 3989 | 3991 | 3979 |
Minor allele frequencies | |||
Cases | 0.47 | 0.17 | 0.15 |
Controls | 0.39 | 0.23 | 0.10 |
Principal component* adjusted P-value cases versus controls | 3.40E-08 | 1.50E-07 | 1.50E-07 |
Odds ratio and 95% confidence intervals for 0, 1, or 2 minor alleles | 1.39 (1.24–1.57) | 0.68 (0.58–0.79) | 1.54 (1.31–1.82) |
B. Replication set: 176 Mayo Clinic glioblastoma and anaplastic astrocytoma cases and 174 Mayo Clinic general medicine controls | |||
Number genotyped | |||
Cases | 175 | 175 | 176 |
Controls | 173 | 174 | 174 |
Minor allele frequencies | |||
Cases | 0.53 | 0.15 | 0.16 |
Controls | 0.41 | 0.26 | 0.10 |
Principal component* adjusted P-value cases versus controls | 0.0038 | 0.00035 | 0.03 |
Odds ratio and 95% confidence intervals for 0, 1, or 2 minor alleles | 1.56 (1.16–2.12) | 0.48 (0.32–0.72) | 1.66 (1.06–2.61) |
Combined results | |||
Mantel-Haenszel combined P-values | 1.85E-10 | 3.40E-09 | 1.70E-09 |
Odds ratio and 95% confidence intervals | 1.42 (1.27–1.58) | 0.66 (0.57–0.76) | 1.60 (1.37–1.87) |
Principal component analysis implemented with Eigenstrat software. Complete results for thirteen top hits with p<10−6 from UCSF GWAS and Mayo Clinic replication p-values are shown in Supplementary Table 2, with Mantel-Haenszel combined results presented in Supplementary Table 6.