Table 1.
Locus | Null scenarios | Type I error of SS2 | Type I error of SMR | Type I error of SMR-multi | False positive rate of COLOC | False positive rate of COLOC2 |
---|---|---|---|---|---|---|
MUC20/MUC4 | H01 | 0.0021 | <10−4 | <10−4 | <10−4 | 0.0011 |
H02 | 0.0450 | 0.0377 | 0.0332 | 1.00 × 10−4 | 0.0245 | |
H03 | 0.0229 | <10−4 | <10−4 | 4.00 × 10−4 | 0.0858 | |
H04 | 0.0262 | 0.0389 | 0.0367 | <10−4 | 1.00 × 10−4 | |
SLC6A14 | H01 | 0.0025 | <10−4 | <10−4 | <10−4 | 0.0022 |
H02 | 0.0507 | 0.0372 | 0.0342 | 5 × 10−4 | 0.0468 | |
H03 | 0.0099 | <10−4 | <10−4 | 9 × 10−4 | 0.088 | |
H04 | 0.0133 | 0.0368 | 0.0336 | <10−4 | 0.0012 |
The LD pattern at the simulated region follows that at the MUC20/MUC4 and SLC6A14 loci, respectively. Each row corresponds to a specific null scenario when there is no co-localization. H01 represents the scenario when there are no SNP-phenotype associations and no eQTL; H02 represents the scenario when there are no SNP-phenotype associations but eQTLs are present; H03 represents the scenario where SNP-phenotype associations are present but no eQTL; H04 represents the scenario where both SNP-phenotype association and eQTLs are present, but occurring at two independent SNPs. For SS2, SMR,11 and SMR-multi,12 the nominal type I error was set at . SMR and Multi-SNP-based SMR test (SMR-multi) are conducted under the default setting such that a SNP is picked only if the eQTL p value is less than 5 × 10−8. For COLOC214 and COLOC,4 the false positive rates are calculated by applying the 0.8 threshold (as recommended by Dobbyn et al.14) for the colocalization posterior probability. In total, 104 replications are simulated for each null scenario.