Chromosome | Locus | SNP | Position | AUGOSA (933 cases, 3346 controls) | AAGC (231 cases, 1345 controls) | Meta-analysis | |||||
r2 imp | OR (95% CI) | p Value | r2 imp | OR (95% CI) | p Value | OR (95% CI) | p Value | ||||
Six genotyped SNPs from regions identified in genotyped SNP analyses | |||||||||||
2 | IL18R1 | rs3771166 | 102352654 | GENO | 0.79 (0.71 to 0.88) | 1.93×10(−5) | GENO | 0.71 (0.57 to 0.87) | 0.001 | 0.77 (0.70 to 0.85) | 1.24×10(−7) |
5 | C5orf56 | rs11745587 | 131824821 | GENO | 1.30 (1.17 to 1.45) | 2.09×10(−6) | GENO | 1.13 (0.92 to 1.39) | 0.25 | 1.26 (1.15 to 1.39) | 2.13×10(−6) |
6 | CD83 | rs9382936 | 14173097 | GENO | 1.31 (1.17 to 1.48) | 5.61×10(−6) | GENO | 1.00 (0.79 to 1.25) | 0.98 | 1.24 (1.12 to 1.38) | 5.68×10(−5) |
7 | PRPS1L1 | rs12699949 | 18010787 | GENO | 0.77 (0.69 to 0.87) | 1.19×10(−5) | GENO | 0.89 (0.72 to 1.10) | 0.27 | 0.80 (0.72 to 0.88) | 1.19×10(−5) |
13 | Intergenic | rs2496764 | 84477159 | GENO | 1.34 (1.18 to 1.52) | 7.86×10(−6) | GENO | 0.99 (0.78 to 1.27) | 0.96 | 1.26 (1.12 to 1.41) | 8.03×10(−5) |
17 | ERBB2 | rs1810132 | 35119531 | GENO | 1.28 (1.14 to 1.43) | 1.73×10(−5) | GENO | 1.07 (0.86 to 1.32) | 0.56 | 1.23 (1.11 to 1.36) | 4.54×10(−5) |
Four imputed SNPs in regions above with a lower p value than the original genotyped SNP in imputed SNP analyses | |||||||||||
2 | IL18R1 | rs9807989 | 102337632 | 0.91 | 0.76 (0.67 to 0.85) | 5.20×10(−6) | 0.91 | 0.72 (0.58 to 0.89) | 0.003 | 0.75 (0.68 to 0.83) | 5.59×10(−8) |
7 | PRPS1L1 | rs12699948 | 18010735 | 0.92 | 0.75 (0.66 to 0.85) | 4.84×10(−6) | 0.93 | 0.92 (0.74 to 1.15) | 0.46 | 0.79 (0.71 to 0.88) | 1.44×10(−5) |
13 | Intergenic | rs9547037 | 84476839 | 0.90 | 1.38 (1.20 to 1.58) | 6.60×10(−6) | 0.90 | 1.00 (0.78 to 1.29) | 0.97 | 1.28 (1.13 to 1.44) | 8.01×10(−5) |
17 | STARD3 | rs9972882 | 35061224 | 0.98 | 1.32 (1.17 to 1.49) | 5.17×10(−6) | 0.99 | 1.07 (0.85 to 1.34) | 0.55 | 1.26 (1.13 to 1.40) | 1.64×10(−5) |
Two SNPs with p>10(−5) responsible for secondary peaks in regions with known asthma genes | |||||||||||
2 | IL1R1 | rs13035227 | 102130269 | 0.96 | 1.36 (1.16 to 1.58) | 8.91×10(−5) | GENO | 1.53 (1.17 to 1.99) | 0.002 | 1.40 (1.22 to 1.59) | 6.69×10(−7) |
5 | IL13 | rs847 | 132024568 | 0.86 | 1.35 (1.17 to 1.55) | 4.05×10(−5) | 0.94 | 1.12 (0.88 to 1.43) | 0.37 | 1.29 (1.14 to 1.45) | 6.43×10(−5) |
Twelve SNPs from new regions identified by imputation with p<10(−5) and r2 imp=0.7 (includes two secondary peaks in previously identified 17q12-21 region) | |||||||||||
2 | Intergenic | chr2:211694960 | 211694960 | 0.70 | 1.76 (1.40 to 2.21) | 1.27×10(−6) | 0.78 | 1.11 (0.73 to 1.70) | 0.62 | 1.59 (1.30 to 1.94) | 6.80×10(−6) |
5 | FLJ37543 | rs7715669 | 60972053 | GENO | 0.74 (0.65 to 0.84) | 5.92×10(−6) | GENO | 0.93 (0.74 to 1.18) | 0.56 | 0.78 (0.69 to 0.87) | 2.29×10(−5) |
5 | NDFIP1 | rs6867913 | 141426164 | 0.99 | 0.72 (0.63 to 0.82) | 1.74×10(−6) | 0.97 | 0.90 (0.69 to 1.15) | 0.39 | 0.75 (0.67 to 0.85) | 3.82×10(−6) |
6 | GCLC | rs9395865 | 53415653 | GENO | 0.76 (0.67 to 0.85) | 5.27×10(−6) | GENO | 1.15 (0.93 to 1.42) | 0.19 | 0.84 (0.76 to 0.93) | 9.27×10(−4) |
6 | Intergenic | rs6922932 | 73384242 | 0.78 | 0.70 (0.60 to 0.82) | 7.36×10(−6) | 0.83 | 1.02 (0.79 to 1.31) | 0.88 | 0.78 (0.68 to 0.89) | 1.99×10(−4) |
8 | DUSP4 | rs650230 | 29322727 | 0.78 | 1.37 (1.19 to 1.57) | 6.40×10(−6) | 0.76 | 1.04 (0.83 to 1.30) | 0.73 | 1.27 (1.13 to 1.42) | 5.74×10(−5) |
9 | ACO1 | rs10970976 | 32423526 | 0.98 | 0.76 (0.67 to 0.86) | 9.14×10(−6) | 0.96 | 0.84 (0.67 to 1.05) | 0.13 | 0.78 (0.70 to 0.86) | 3.69×10(−6) |
11 | OR52E4 | rs4453217 | 5883859 | 0.87 | 1.43 (1.25 to 1.64) | 2.82×10(−7) | 0.88 | 0.94 (0.72 to 1.22) | 0.63 | 1.31 (1.16 to 1.48) | 1.50×10(−5) |
11 | ETS1 | rs7125574 | 127866404 | 0.93 | 1.34 (1.18 to 1.51) | 5.28×10(−6) | 0.93 | 0.92 (0.73 to 1.16) | 0.49 | 1.23 (1.10 to 1.37) | 2.13×10(−4) |
17 | STAC2 | rs9897185 | 34642935 | GENO | 1.31 (1.16 to 1.47) | 1.19×10(−5) | GENO | 0.95 (0.75 to 1.19) | 0.64 | 1.22 (1.10 to 1.35) | 2.50×10(−4) |
17 | ORMDL3 | rs4794820 | 35342870 | 0.94 | 0.76 (0.68 to 0.85) | 1.52×10(−6) | 0.93 | 0.72 (0.59 to 0.89) | 0.002 | 0.75 (0.69 to 0.83) | 1.03×10( −8) |
19 | ZNF665 | rs16984547 | 58373854 | GENO | 1.53 (1.30 to 1.82) | 5.45×10(−7) | GENO | 1.06 (0.76 to 1.49) | 0.74 | 1.43 (1.23 to 1.66) | 3.54×10(−6) |
Effect allele refers to the minor allele. GENO denotes genotyped SNP. Significant p values p≤0.05 in replication, p<5×10(−8) in meta-analysis are shown in bold. The gene tagged by the SNP due to linkage disequilibrium (LD) block structure within the locus is listed.
AAGC, Australian Asthma Genetics Consortium; AUGOSA, Asthma UK Genetics of Severe Asthma.