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. 2022 Jan 21;109(2):253–269. doi: 10.1016/j.ajhg.2021.12.012

Table 1.

Empirical type I error rates of SS2, SMR, and SMR-multi and false positive rates of COLOC2 and COLOC for a single hypothesis test

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 α=0.05. 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.