Table 2.
Phenotypes | SNP | Chr. Region a | Genomic Context | Effect Allele | Coefficient Type | Coefficient Value | p-Value | References |
---|---|---|---|---|---|---|---|---|
Asthma age onset | rs10208293 | 2q12 | IL1RL1 | G | HR | 1.14 | 3.1 × 10−8 | [89] |
rs9272346 | 6p21 | HLA-DQA1 | A | HR | 1.13 | 1.6 × 10−8 | ||
rs928413 | 9p24 | IL33 | G | HR | 1.19 | 6.5 × 10−16 | ||
rs1861760 | 16q12 | CYLD | A | HR | 1.28 | 4.2 × 10−8 | ||
rs9901146 | 17q12-q21 | ZPBP2/GSDMB | G | HR | 1.18 | 1.9 × 10−16 | ||
rs61816761 | 1q21.3 | FLG | A | beta | −4.57 | 8.15 × 10−27 | [90] | |
rs7518129 | 1q25.1 | TNFSF4 | G | beta | −0.85 | 4.89 × 10−9 | ||
rs3771175 | 2q12.1 | IL1RL1 | T | beta | −1.73 | 7.66 × 10−17 | ||
rs10187276 | 2q36.3 | SNRPGP8/CCL20 | T | beta | −0.87 | 1.98 × 10−8 | ||
rs78147778 | 2q37.3 | D2HGDH | T | beta | −0.91 | 1.64 × 10−8 | ||
rs2889896 | 3q28 | LPP | C | beta | −0.98 | 8.07 × 10−13 | ||
rs5743618 | 4p14 | TLR1 | C | beta | −1.58 | 4.53 × 10−22 | ||
rs4705962 | 5q31.1 | KIF3A | T | beta | −0.99 | 5.57 × 10−10 | ||
rs12207974 | 6p21.33 | HLA-E/RANP1 | C | beta | −1.07 | 8.86 × 10−11 | ||
rs1093 | 6p21.33 | HLA-B | G | beta | −0.99 | 8.41 × 10−10 | ||
rs9274659 | 6p21.32 | HLA-DQB1/MTCO3P1 | A | beta | −1.25 | 6.71 × 10−18 | ||
rs7848215 | 9p24.1 | IL33 | T | beta | −1.03 | 7.51 × 10−12 | ||
rs117137535 | 9q34.3 | ARRDC1 | A | beta | −2.46 | 3.42 × 10−8 | ||
rs61894547 | 11q13.5 | EMSY | T | beta | −2.23 | 4.42 × 10−15 | ||
rs12365699 | 11q23.3 | CXCR5/DDX6 | G | beta | −1.40 | 4.42 × 10−14 | ||
rs4795399 | 17q12 | GSDMB | T | beta | −2.29 | 6.76 × 10−65 | ||
rs11658582 | 17q21.2 | CCR7/SMARCE1 | G | beta | −0.91 | 1.37 × 10−10 | ||
rs4574025 | 18q21.33 | TNFRSF11A | T | beta | −0.87 | 1.61 × 10−10 | ||
rs12964116 | 18q21.33 | SERPINB7 | G | beta | −1.92 | 4.87 × 10−8 | ||
rs5758324 | 22q13.2 | TEF | G | HR | 1.06 | 2.39 × 10−8 | [91] | |
rs2844649 | 6p21.33 | SFTA2/MUCL3 | A | HR | 1.08 | 4.45 × 10−8 | ||
Asthma severity | rs560026225 | 4q27 | KIAA1109 | GATT | OR | 1.12 | 3.06 × 10−9 | [93] |
rs10905284 | 10p14 | GATA3 | A | OR | 0.90 | 1.76 × 10−10 | ||
rs11603634 | 11p15.5 | MUC5AC | G | OR | 1.09 | 2.32 × 10−8 | ||
rs7523907 | 1q24.2 | CD247 | T | OR | 1.10 | 4.82 × 10−9 | ||
rs12479210 | 2q12.1 | IL1RL1 | T | OR | 1.19 | 1.57 × 10−29 | ||
rs34290285 | 2q37.3 | D2HGDH | A | OR | 0.84 | 2.24 × 10−23 | ||
rs1837253 | 5q22.1 | TSLP | C | OR | 1.19 | 1.95 × 10−22 | ||
rs1438673 | 5q22.1 | WDR36 | T | OR | 0.89 | 3.29 × 10−13 | ||
rs3749833 | 5q31.1 | C5orf56 | C | OR | 1.14 | 5.60 × 10−14 | ||
rs1986009 | 5q31.1 | RAD50 | A | OR | 1.17 | 2.43 × 10−15 | ||
rs9273410 | 6p21.32 | HLA-DQB1 | A | OR | 1.21 | 5.62 × 10−32 | ||
rs144829310 | 9p24.1 | IL33 | T | OR | 1.21 | 2.29 × 10−20 | ||
rs7936312 | 11q13.5 | C11orf30 | T | OR | 1.17 | 6.18 × 10−24 | ||
rs703816 | 12q13.3 | STAT6 | C | OR | 1.12 | 3.69 × 10−13 | ||
rs10519068 | 15q22.2 | RORA | A | OR | 0.85 | 1.84 × 10−12 | ||
rs72743461 | 15q22.33 | SMAD3 | A | OR | 1.14 | 4.52 × 10−14 | ||
rs7203459 | 16p13.13 | CLEC16A | C | OR | 0.86 | 4.37 × 10−18 | ||
rs2941522 | 17q12 | IKZF3 | T | OR | 1.11 | 2.32 × 10−12 | ||
rs139210940 | 2q12.1 | IL1RL2 | AT | OR | 1.34 | 8.08 × 10−9 | [94] | |
rs10455025 | 5q22.1 | TSLP | C | OR | 1.30 | 4.36 × 10−13 | ||
rs17205170 | 6p21.32 | HLA-DQA1 | G | OR | 1.45 | 7.92 × 10−16 | ||
rs2875584 | 6q15 | BACH2 | C | OR | 1.24 | 1.57 × 10−8 | ||
rs7130588 | 11q13.5 | C11orf30 | G | OR | 1.24 | 2.46 × 10−9 | ||
rs2104047 | 14q24.1 | RAD51B | T | OR | 1.25 | 1.28 × 10−8 | ||
rs11631778 | 15q23 | THSD4 | G | OR | 1.23 | 3.54 × 10−8 | ||
rs7216558 | 17q12 | GSDMB | T | OR | 1.26 | 1.91 × 10−11 | ||
Pulmonary function | ||||||||
FEV1 | rs559389 | 11q13.4 | - | C | beta | −0.03 | 5.28 × 10−5 | [95] |
rs9366309 | 6p22.3 | - | T | beta | −0.03 | 3.32 × 10−5 | ||
rs6763931 | 3q23 | ZBTB38 | A | beta | 0.03 | 5.90 × 10−5 | ||
rs2304725 | 3p25.3 | SLC6A11 | C | beta | 0.03 | 3.87 × 10−5 | ||
rs17161791 | 7p21.3 | - | C | beta | 0.002 | 3.01 × 10−5 | ||
rs10795348 | 10p13 | C10orf97 | T | beta | 20.16 | 5.07 × 10−5 | [96] | |
rs10951730 | 7p13 | HECW1 | A | beta | 20.24 | 9.58 × 10−5 | ||
rs1291183 | 18p11.32 | YES1 | T | beta | 20.18 | 3.54 × 10−5 | ||
rs1321267 | 6q23.2 | MOXD1 | A | beta | 20.14 | 5.46 × 10−5 | ||
rs1843593 | 4q13.2 | GNRHR | T | beta | 20.20 | 5.30 × 10−5 | ||
rs2040403 | 22q12.3 | SYN3 | A | beta | 0.29 | 1.96 × 10−5 | ||
rs2063485 | 3q13.11 | ZPLD1 | T | beta | 0.23 | 7.18 × 10−5 | ||
rs285461 | 1q23.3 | LRRC52 | T | beta | 0.22 | 9.56 × 10−5 | ||
rs3010301 | 6q24.1 | CITED2 | T | beta | 0.17 | 2.65 × 10−5 | ||
rs3756089 | 4q35.1 | IRF2 | T | beta | 0.26 | 8.79 × 10−5 | ||
rs3805383 | 4q12 | NMU | A | beta | 20.17 | 2.35 × 10−5 | ||
rs388159 | 19p13.11 | IL12RB1 | T | beta | 0.19 | 3.47 × 10−5 | ||
rs4234121 | 2q37.3 | KIF1A | A | beta | 20.15 | 3.25 × 10−5 | ||
rs4651208 | 1q25.3 | C1orf21 | T | beta | 20.15 | 6.34 × 10−5 | ||
rs4735916 | 8p23.3 | ERICH1 | A | beta | 20.24 | 7.02 × 10−5 | ||
rs5755023 | 22q12.3 | LARGE | A | beta | 20.21 | 1.75 × 10−5 | ||
rs58667 | 22q13.31 | UPK3A | A | beta | 0.18 | 3.95 × 10−7 | ||
rs6788848 | 3q13.11 | ZPLD1 | T | beta | 20.18 | 4.99 × 10−5 | ||
rs7434819 | 4q32.1 | C4orf18 | A | beta | 20.14 | 7.34 × 10−5 | ||
rs7670758 | 4q31.21 | HHIP | A | beta | 20.14 | 9.50 × 10−5 | ||
rs7836170 | 8q13.2 | SULF1 | T | beta | 20.16 | 2.15 × 10−5 | ||
rs925847 | 2q32.2 | STAT4 | T | beta | 0.16 | 8.17 × 10−5 | ||
rs9364299 | 6q27 | SMOC2 | A | beta | 0.14 | 9.96 × 10−5 | ||
rs9903394 | 17q24.3 | SOX9 | A | beta | 0.16 | 8.47 × 10−5 | ||
FVC | rs6482071 | 10p12.31 | BCL11A | T | beta | 20.16 | 6.15 × 10−5 | |
rs2497714 | 10q25.3 | ALS2CR4 | T | beta | 20.17 | 8.49 × 10−5 | ||
rs2181563 | 10q25.3 | TNIK | A | beta | 0.20 | 3.50 × 10−5 | ||
rs10466868 | 12q24.33 | YTHDC1 | T | beta | 0.35 | 1.39 × 10−5 | ||
rs6500728 | 16p13.3 | KIAA0922 | T | beta | 20.17 | 2.02 × 10−5 | ||
rs169660 | 16p12.2 | SULF1 | T | beta | 20.17 | 9.77 × 10−5 | ||
rs1291183 | 18p11.32 | ABLIM1 | A | beta | 0.33 | 4.66 × 10−5 | ||
rs11085898 | 19p13.12 | PLXDC2 | T | beta | 0.31 | 6.50 × 10−5 | ||
rs2110565 | 2p16.1 | KIAA1600 | A | beta | 20.17 | 6.72 × 10−5 | ||
rs1208082 | 2q33.1 | LOC338797 | T | beta | 20.25 | 6.39 × 10−5 | ||
rs221013 | 20p12.2 | HS3ST2 | T | beta | 20.17 | 4.20 × 10−5 | ||
rs8115491 | 20q12 | A2BP1 | T | beta | 20.17 | 7.15 × 10−5 | ||
rs6096573 | 20q13.2 | YES1 | T | beta | 20.18 | 5.47 × 10−5 | ||
rs9974012 | 20q13.31 | NDUFB7 | A | beta | 0.16 | 4.97 × 10−5 | ||
rs7281703 | 21q21.1 | PAK7 | T | beta | 0.17 | 3.09 × 10−5 | ||
rs8140240 | 22q12.3 | ATP9A | T | beta | 0.16 | 5.92 × 10−5 | ||
rs4133045 | 3q26.2 | PTPRT | T | beta | 0.20 | 7.02 × 10−5 | ||
rs17592868 | 4q13.2 | BMP7 | T | beta | 0.16 | 8.72 × 10−5 | ||
rs13119846 | 4q31.3 | C21orf37 | T | beta | 0.33 | 6.98 × 10−5 | ||
rs7836170 | 8q13.2 | EIF3S7 | A | beta | 20.31 | 9.95 × 10−5 | ||
FEV1/FVC | rs11032873 | 11p13 | APIP | T | beta | 0.18 | 3.08 × 10−5 | |
rs11675728 | 2q36.3 | DNER | T | beta | 20.15 | 7.22 × 10−5 | ||
rs12659620 | 5p15.31 | ADCY2 | T | beta | 0.15 | 5.56 × 10−5 | ||
rs1406593 | 7p15.2 | SNX10 | T | beta | 20.15 | 7.64 × 10−5 | ||
rs1416920 | 6p22.1 | ZNF323 | T | beta | 0.16 | 9.46 × 10−5 | ||
rs17450685 | 10q22.3 | C10orf11 | T | beta | 0.15 | 8.73 × 10−5 | ||
rs17554448 | 2q31.1 | ZNF650 | A | beta | 0.19 | 8.56 × 10−5 | ||
rs17646998 | 8q13.2 | SULF1 | T | beta | 20.15 | 3.61 × 10−5 | ||
rs2063485 | 3q13.11 | ZPLD1 | T | beta | 0.25 | 1.34 × 10−5 | ||
rs2230739 | 16p13.3 | ADCY9 | A | beta | 0.16 | 6.25 × 10−5 | ||
rs2705044 | 8p22 | MTMR7 | A | beta | 0.21 | 7.46 × 10−5 | ||
rs3130696 | 6p21.33 | HLA-C | A | beta | 20.17 | 7.34 × 10−5 | ||
rs3748540 | 1q43 | GREM2 | A | beta | 0.15 | 7.88 × 10−5 | ||
rs3809335 | 13q12.13 | MTMR6 | T | beta | 0.28 | 5.40 × 10−5 | ||
rs4234121 | 2q37.3 | KIF1A | A | beta | 20.15 | 5.32 × 10−5 | ||
rs5767064 | 22q13.32 | LOC388915 | A | beta | 0.16 | 2.79 × 10−5 | ||
rs7663065 | 4p15.1 | FLJ45721 | A | beta | 20.15 | 5.43 × 10−5 | ||
rs8030494 | 15q24.1 | TBC1D21 | A | beta | 0.15 | 7.83 × 10−5 | ||
rs823673 | 1p34.2 | NFYC | A | beta | 0.19 | 3.94 × 10−5 | ||
rs9287995 | 2q31.1 | HNRPA3 | T | beta | 0.15 | 6.02 × 10−5 | ||
rs9362054 | 6q14.3 | C6orf84 | T | beta | 0.14 | 8.68 × 10−5 | ||
rs9574386 | 13q31.1 | C13orf10 | A | beta | 20.27 | 7.72 × 10−5 | ||
Asthma remission | [97] | |||||||
Clinical remission | rs7240102 | 18q21.2 | LOC100130003/C18orf26 | G | OR | 1.99 | 7.9 × 10−5 | |
Complete remission | rs6581895 | 12q15 | YEATS4/FRS2 | G | OR | 3.83 | 1.3 × 10−5 | |
rs12405429 | 1q42.2 | FAM89A/TRIM67 | G | OR | 3.10 | 1.0 × 10−4 | ||
rs1420101 | 2q12.1 | IL18R1/IL1RL1 | A | OR | 0.44 | 3.4 × 10−4 | ||
T2-low asthma | rs117639512 | 19q13.41 | KLK5 | A | OR | 0.33 | 2.75 × 10−8 | [101] |
Total IgE | rs10404342 | 19q13.43 | ZNF71 | C | NA | NA | 7.60 × 10−6 | [102] |
rs4879926 | 9p13.3 | TLN1 | C | NA | NA | 7.74 × 10−60 | ||
Eosinophil-specific proteins | [104] | |||||||
EDN | rs72677651 | 1p31.3 | JAK1/AK4 | T | beta | 0.54 | 2.0 × 10−8 | |
rs76335186 | 7p21.3 | NDUFA4 | G | beta | −0.55 | 4.9 × 10−8 | ||
rs67049014 | 14q11.2 | RNASE2/METTL17 | A | beta | −0.32 | 3 × 10−12 | ||
ECP | rs56675562 | 9q22.1 | CDK20/SPATA31C2 | G | beta | −0.56 | 5.1 × 10−9 | |
ECP-EDN | rs116571378 | 2p13.3 | ARHGAP25 | T | beta | NA | 4.2 × 10−10 | |
rs67049014 | 14q11.2 | RNASE2/METTL17 | A | beta | NA | 1 × 10−13 |
a Positions based on GRCh37/hg19 build. Abbreviations: FEV1: forced expiratory volume in 1 second; FVC: forced vital capacity; HR: hazard ratio; IgE: immunoglobulin E; NA: not available; OR: odds ratio.