Table 1. Evaluation of the I/D ratio across four MAF ranges (0–0.01, 0.01–0.05, 0.05–0.15 and 0.15–0.50) and two thresholds of nominal significance in the case–control analysis (P CC <0.01 and P CC <0.001).
MAF range | Assoc. P | No. SNPs | Obs. I/D ratio | Exp. I/D ratio | Observed log2(I/D) | Expected log2(I/D) (s.d.) | Z-score | PI/D |
---|---|---|---|---|---|---|---|---|
0–0.01 | 0.01 | 467 | 3.396 | 6.400 | 1.764 | 2.652 (0.271) | −3.282 | 0.001 |
0–0.01 | 0.001 | 73 | 8.000 | 32.159 | 3.000 | 4.861 (0.697) | −2.668 | 0.008 |
0.01–0.05 | 0.01 | 62 | 2.211 | 1.435 | 1.144 | 0.473 (0.369) | 1.819 | 0.069 |
0.01– 0.05 | 0.001 | 6 | 6.000 | 2.818 | 2.585 | 1.035 (1.222) | 1.268 | 0.205 |
0.05–0.15 | 0.01 | 31 | 1.000 | 1.231 | 0.000 | 0.209 (0.510) | −0.410 | 0.682 |
0.05–0.15 | 0.001 | 2 | 0.500 | 1.703 | −1.000 | 0.307 (1.211) | −1.079 | 0.280 |
0.15–0.50 | 0.01 | 60 | 0.903 | 1.098 | −0.147 | 0.075 (0.416) | −0.533 | 0.594 |
0.15–0.50 | 0.001 | 6 | 0.667 | 1.552 | −0.585 | 0.103 (1.264) | −0.544 | 0.586 |
Abbreviations: I/D, increaser/decreaser; MAF, minor allele frequency; SNP, single-nucleotide polymorphism. The expected I/D ratios were calculated using 1000 permutations of the phenotype to determine the null distribution. The chi-square PI/D values assess the difference between the observed and expected I/D ratios.