Table 3. Effect sizes (beta), 95% confidence intervals (CI), and P-values for five core SNPs and expression of the eight 17q12–21 genes that are expressed in PBMCs (A) and upper airway epithelial cells (B).
The effect sizes (beta) reflect the expected increase in expression associated with each copy of the asthma risk allele. P-values were corrected for 40 tests (5 SNPs x 8 genes); P < 0.0012 are considered significant (shown in bolded font) (also see Figure 2).
A. PBMCs (n=85) | ||||||||||||
SNP | PGAP3 | ERBB2 | MIEN1 | GRB7 | ||||||||
Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | |
rs12936231 | 1·00 | 0·96, 1·041 | 0·81 | 0·976 | 0·91, 1·037 | 0·55 | 0·994 | 0·96, 1·024 | 0·99 | 1·02 | 0·82, 1·25 | 0·70 |
rs2305480 | 1·01 | 0·95, 1·084 | 0·62 | 1.0 | 0·89, 1·11 | 0·91 | 0·987 | 0·93, 1·040 | 0·68 | 0·973 | 0·67, 1·40 | 0·92 |
rs7216389 | 0·98 | 0·93, 1·042 | 0·55 | 0·945 | 0·86, 1·036 | 0·32 | 0·993 | 0·95, 1·038 | 0·90 | 0·888 | 0·65, 1·21 | 0·53 |
rs4065275 | 0·98 | 0·95, 1·026 | 0·49 | 0·992 | 0·93, 1·057 | 0·96 | 1·008 | 0·97, 1·039 | 0·39 | 1·032 | 0·83, 1·27 | 0·61 |
rs8076131 | 1·00 | 0·95, 1·064 | 0·84 | 0·942 | 0·85, 1·033 | 0·28 | 0·99 | 0·94, 1·035 | 0·8 | 0·943 | 0·69, 1·29 | 0·78 |
SNP | IKZF3 | GSDMB | ORMDL3 | GSDMA | ||||||||
Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | |
rs12936231 | 0·967 | 0·91, 1·027 | 0·52 | 1·238 | 1·15, 1·32 | <0.0001 | 1·186 | 1·12, 1·24 | <0.0001 | 1·202 | 0·91, 1·58 | 0·23 |
rs2305480 | 0·938 | 0·84, 1·045 | 0·27 | 1·218 | 1·067, 1·39 | 0.0025 | 1·232 | 1·11, 1·35 | <0.0001 | 1·279 | 0·78, 2·094 | 0·33 |
rs7216389 | 0·915 | 0·83, 1·001 | 0·17 | 1·239 | 1·11, 1·38 | 0.0004 | 1·203 | 1·10, 1·30 | <0.0001 | 1·279 | 0·84, 1·93 | 0·32 |
rs4065275 | 1·003 | 0·94, 1·068 | 0·44 | 1·185 | 1·10, 1·27 | <0.0001 | 1·133 | 1·071, 1·19 | <0.0001 | 1·067 | 0·80, 1·42 | 0·79 |
rs8076131 | 0·94 | 0·85, 1·029 | 0·38 | 1·158 | 1·034, 1·29 | 0·021 | 1·151 | 1·058, 1·25 | 0.0026 | 1·408 | 0·92, 2·13 | 0·14 |
B. Upper Airway Epithelial Cells (n=246) | ||||||||||||
SNP | PGAP3 | ERBB2 | MIEN1 | GRB7 | ||||||||
Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | |
rs12936231 | 1·026 | 0·989, 1·064 | 0·17 | 0·993 | 0·970, 1·016 | 0·54 | 1·009 | 0.993, 1.025 | 0·25 | 0·949 | 0.899, 1.002 | 0·061 |
rs2305480 | 1·147 | 1.081, 1.216 | <0.0001 | 1·031 | 0.992, 1.071 | 0·12 | 1·016 | 0.991, 1.042 | 0·22 | 0·980 | 0.895, 1.074 | 0·67 |
rs7216389 | 1·081 | 1.032, 1.133 | 0.0010 | 1·028 | 0.998, 1.060 | 0·070 | 1·018 | 0.998, 1.039 | 0·070 | 0·990 | 0.921, 1.064 | 0·78 |
rs4065275 | 1·034 | 0.997, 1.072 | 0·74 | 1·008 | 0.985, 1.032 | 0·49 | 1·003 | 0.988, 1.019 | 0·67 | 1·003 | 0.949, 1.060 | 0·93 |
rs8076131 | 1·107 | 1.052, 1.164 | <0.0001 | 1·028 | 0.995, 1.063 | 0·093 | 1·014 | 0.993, 1.036 | 0·20 | 0·971 | 0.898, 1.050 | 0·46 |
SNP | IKZF3 | GSDMB | ORMDL3 | GSDMA | ||||||||
Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | Beta | 95% CI | P-value | |
rs12936231 | 0·872 | 0.799, 0.951 | 0.0021 | 1·026 | 0.975, 1.080 | 0·32 | 0·989 | 0.962, 1.017 | 0·45 | 0·908 | 0.741, 1.112 | 0·35 |
rs2305480 | 0·976 | 0.850, 1.119 | 0·73 | 1·353 | 1.251, 1.464 | <0.0001 | 0·990 | 0.945, 1.036 | 0·66 | 1·275 | 0.911, 1.785 | 0·16 |
rs7216389 | 0·971 | 0.874, 1.078 | 0·58 | 1·144 | 1.073, 1.220 | <0.0001 | 1·015 | 0.979, 1.051 | 0·43 | 1·398 | 1.078, 1.813 | 0·11 |
rs4065275 | 0·913 | 0.843, 0.989 | 0·026 | 1·054 | 1.003, 1.108 | 0·038 | 1·006 | 0.979, 1.035 | 0·65 | 0·962 | 0.786, 1.178 | 0·71 |
rs8076131 | 0·985 | 0.877, 1.105 | 0·79 | 1·225 | 1.144, 1.312 | <0.0001 | 0·994 | 0.956, 1.034 | 0·78 | 1·328 | 0.998, 1.767 | 0·051 |