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. 2022 Jan 24;119(5):e2108672119. doi: 10.1073/pnas.2108672119

Table 4.

Causal genes associated with myasthenia gravis based on TWAS of skeletal muscle

MAF eQTL TWAS
Chr ID Cases Cont. Z GWAS.Z Z P PERM.P PPH4
Overall
CHRNB1 17 rs4151121 0.433 0.372 −11.79 4.39 −4.67 3.01 × 10−6 2.03 × 10−4 0.98
ERBB2 17 rs2102928 0.353 0.322 −3.42 2.16 −5.00 5.63 × 10−7 7.99 × 10−4 0.18
Early-onset
CYP21A2 6 rs3101018 0.225 0.089 4.55 12.72 10.90 7.32 × 10−28 3.76 × 10−3 0.98
HLA-DMA 6 rs35404844 0.061 0.042 7.12 3.58 7.60 2.88 × 10−14 1.13 × 10−3 0.89
Late-onset
C2 6 rs1048709 0.180 0.180 −3.97 4.51 −6.80 1.04 × 10−11 1.23 × 10−3 0.71
HLA-DRB5 6 rs9271055 0.180 0.158 16.95 5.46 7.68 1.65 × 10−14 5.05 × 10−3 0.00

Chr, chromosome; ID, rs number of the best eQTL locus in the locus; MAF, minor allele frequency; cont., controls; eQTL Z, Z-score of the best eQTL in the locus; GWAS.Z, GWAS Z-score for the eQTL; PERM.P, TWAS permutation P values; PPH4, Bayesian derived posterior probability for colocalization of the eQTL and the GWAS variant.