SNPs | Reference allele (freq)* | Gene (probe set) | Lung eQTL p value† | eQTL Z score‡ | p Value phenotype§ | Z score phenotype¶ |
---|---|---|---|---|---|---|
FEV1% predicted | ||||||
rs769178 | G (0.91) | NCR3 (100125842_TGI_at) | 8.03×10−30 | 11.3 | 4.7×10−4 | 3.5 |
rs6048956 | C (0.77–0.79) | CST3 (100307577_TGI_at) | 1.54×10−68 | 17.5 | 7.8×10−4 | −3.4 |
rs6515375 | G (0.79–0.81) | CST3 (100125967_TGI_at) | 3.65×10−6 | 4.6 | 5.8×10−4 | −3.4 |
rs2270859 | G (0.83–0.88) | CSTA (100148334_TGI_at) | 1.74×10−9 | 6.0 | 3.1×10−6 | −4.7 |
rs4550905 | G (0.26–0.31) | PPARGC1A (100131093_TGI_at) | 1.69×10−5 | −4.3 | 4.4×10−4 | −3.5 |
rs3803761 | G (0.71–0.77) | FLCN (100135396_TGI_at) | 3.77×10−29 | 11.2 | 3.4×10−2 | −2.1 |
rs1543438 | A (0.76–0.82) | BCL2L1 (100158784_TGI_at) | 3.89×10−5 | −4.1 | 7.94×10−5 | 3.9 |
rs9880397 | G (0.62–0.64) | CADM2 (100162763_TGI_at) | 1.3×10−8 | −5.7 | 2.9×10−4 | 3.6 |
rs2466183 | T (0.84–0.86) | TNFRSF10B (100153254_TGI_at) | 3.76×10−5 | −4.1 | 6.6×10−4 | 3.4 |
FEV1/FVC | ||||||
rs17754977 | A (0.30–0.32) | GSTO2 (100132911_TGI_at) | 3.96×10−5 | 4.1 | 8.2×10−4 | 3.3 |
rs9987135 | T (0.28–0.31) | DEPDC6 (100154484_TGI_at) | 6.13×10−59 | 16.2 | 1.1×10−4 | −3.9 |
rs10411704 | T (0.79–0.82) | CD22 (100154732_TGI_at) | 1.70×10−40 | −13.3 | 4.6×10−4 | 3.5 |
rs12179536 | A (0.80–0.84) | MUC22 (100304000_TGI_at) | 3.47×10−33 | −12.0 | 3.0×10−3 | 3.0 |
rs2287765 | T (0.91–0.93) | SPINK5 (100305138_TGI_at) | 2.85×10−10 | 6.3 | 9.2×10−4 | −3.3 |
p Values and Z scores in this table are from the meta-analysis. As indicated in the text, the significant causal models were selected based on results of both individual cohorts and meta-analysis (SNP associated with phenotype with p value <10−3, SNPs associated with gene expression with p value ≤10−5, and reliability score >0.8 in at least one cohort and/or in the meta-analysis). Known role of genes are provided in online supplementary table S2.
*Frequency of the reference allele in the three cohorts.
†Lung eQTL p-value from the meta-analysis.
‡Z score from the eQTL meta-analysis showing the direction of effect for the SNP on gene expression.
§p Value for association between the SNP and phenotype from the meta-analysis.
¶Effect size (Z score) for association between the SNP and the phenotype from the meta-analysis, showing the direction of effect for the SNP on the phenotype.
eQTL, expression quantitative trait loci; SNP, single nucleotide polymorphism.