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. 2023 Sep 20;14(9):1824. doi: 10.3390/genes14091824

Table 2.

Summary of independent genetic signals from GWAS of asthma-related traits.

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.