Case–control group | SNP group | Number of initial input SNPs | Number of SNPs after cut-off * | % of SNPs analysed | Number of SNPs with AP p<0.05 | % of analysed SNPs with AP p<0.05 | D^+value from KS test (risk vs no-risk)† | Group of SNPs with enrichment of significant interactions |
EIRA | Risk | 241 759 | 160 358 | 66.33 | 39 518 | 24.64 | 0.354 | Risk |
No risk | 4 515 110 | 2 979 344 | 65.99 | 83 287 | 2.80 | |||
NARAC | Risk | 787 499 | 209 890 | 26.65 | 31 992 | 15.24 | 0.247 | Risk |
No risk | 8 244 955 | 1 916 701 | 23.25 | 64 012 | 3.44 |
↵*Interaction was estimated using sex and the 10 first eigenvectors as covariables. A minimum of five individuals in each of the four combinations that formed the basis for the OR calculations was required.
↵†The alternative hypothesis for KS test was that the empirical cumulative distribution function (ECDF) of AP p values for risk SNPs lies above that of non-risk SNPs (figure 2). KS test p<2.2e-16 for both EIRA and NARAC. As mentioned in the Materials and methods section, these KS test p values are lower than the machine precision, meaning that when the precise p value was calculated the result was 0.
AP, attributable proportion; EIRA, epidemiological investigation of rheumatoid arthritis; NARAC, North American rheumatoid arthritis consortium; SE, shared epitope; SNP, single nucleotide polymorphism.