Table 3. Analysis of allele-specific imbalance in discovery, validation, and combined sample sets.
SNP | Sample Set | Risk Allele | Non-risk Allele | Risk Allele Lost* | Non-risk Allele Lost† | Total Imbalance§ | P-value‡ | Adjusted P-value∞ |
rs7136702 | ||||||||
Discovery | T | C | 12 (16%) | 5 (7%) | 17/75 (23%) | 0.09 | 1.00 | |
Validation | T | C | 6 (5%) | 8 (6%) | 14/133 (11%) | 0.59 | 1.00 | |
Combined | T | C | 18 (9%) | 13 (6%) | 31/208 (15%) | 0.37 | 1.00 | |
rs16892766 | ||||||||
Discovery | C | A | 6 (22%) | 1 (4%) | 7/27 (26%) | 0.06 | 0.96 | |
Validation | C | A | 3 (8%) | 3 (8%) | 6/38 (16%) | 1.00 | 1.00 | |
Combined | C | A | 9 (14%) | 4 (6%) | 13/65 (20%) | 0.17 | 0.51 | |
rs6983267 | ||||||||
Discovery | G | T | 6 (9%) | 14 (21%) | 20/67 (30%) | 0.07 | 1.00 | |
Validation | G | T | 9 (7%) | 19 (15%) | 28/125 (22%) | 0.06 | 0.18 | |
Combined | G | T | 15 (8%) | 33 (17%) | 48/192 (25%) | 0.01 | 0.03 |
Risk Allele Lost refers to relative loss of risk allele compared to non-risk allele. Number in parentheses indicates percentage of total heterozygous samples showing relative loss of risk allele.
Non-risk Allele Lost refers to relative loss of non-risk allele compared to risk allele. Number in parentheses indicates percentage of total heterozygous samples showing relative loss of non-risk allele.
Total number of tumors with imbalance/total heterozygous samples (% of heterozygotes showing imbalance).
Chi-squared statistical test, df = 1.
Bonferroni correction for 16 multiple comparisons (original) or 3 multiple comparisons (validation, combined).