Table 4.
Genes with a Sentinel eQTL and/or Non-Synonymous SNP in LD (r2 ≥ 0.8) with Sentinel Asthma Risk Variants Identified in the GWAS of COA or AOA
| Chr | bp | Sentinel SNP | Novel Association | Context |
LD between Sentinel eQTL/Non-Synonymous SNP and Sentinel GWAS SNPa |
|
|---|---|---|---|---|---|---|
| r2≥ 0.95 | 0.8 ≤ r2< 0.95 | |||||
| Sentinel SNPs Identified in the GWAS of COA | ||||||
| 1 | 151801680 | rs4845604 | No | [RORC] | RORC, TUFT1 | - |
| 1 | 161185058 | rs2070901 | No | NDUFS2-[]-FCER1G | F11R, FCER1G, TOMM40L, USF1 | - |
| 1 | 167436270 | rs1617333 | No | [CD247] | CD247 | - |
| 1 | 173131493 | rs10158467 | No | TNFSF18–[]-TNFSF4 | TNFSF4 | - |
| 1 | 203093201 | rs12023876 | No | MYOG-[]-ADORA1 | ADORA1, CHIT1, MYBPH, PPFIA4, RP11-335O13.7 | - |
| 1 | 213056427 | rs12750027 | Yes | [FLVCR1] | - | FLVCR1, FLVCR1-AS1 |
| 2 | 102882352 | rs78545931 | No | IL1RL2-[]-IL18R1 | IL18RAP, IL1RL1 | MFSD9 |
| 2 | 102936159 | rs72823641 | No | [IL18R1] | MFSD9 | - |
| 2 | 102966906 | rs1861245 | No | [IL1RL1] | - | AC007278.3, IL18R1, IL1RL1 |
| 2 | 228670437 | rs10187276 | Yes | SLC19A3-[]-CCL20 | CCL20 | - |
| 2 | 242698640 | rs34290285 | No | [D2HGDH] | PDCD1 | - |
| 3 | 141150026 | rs7625643 | No | [ZBTB38] | - | ZBTB38 |
| 3 | 188128979 | rs9860547 | No | [LPP] | BCL6 | - |
| 4 | 38798648 | rs5743618 | No | [TLR1] | TLR1∗ | - |
| 4 | 123353432 | rs17454584 | No | ADAD1-[]-IL2 | KIAA1109 | - |
| 5 | 14610309 | rs16903574 | No | [FAM105A] | FAM105A∗ | - |
| 5 | 110470137 | rs6594499 | No | WDR36-[]-CAMK4 | - | CTC-551A13.2, TSLP, WDR36 |
| 5 | 131799626 | rs3749833 | No | [C5orf56] | C5orf56,SLC22A4 | - |
| 5 | 131916940 | rs2299012 | No | [RAD50] | SLC22A5 | - |
| 5 | 141533062 | rs449454 | No | [NDFIP1] | NDFIP1 | - |
| 6 | 31303324 | rs114444221 | No | [HLA-B] | - | HLA-C∗, NOTCH4 |
| 6 | 33033824 | rs111789468 | No | [HLA-DPA1] | HLA-DPA1 | HLA-DPB1, HLA-DQB1, TAPBP |
| 7 | 20423923 | rs149317277 | No | [ITGB8] | - | ITGB8∗ |
| 7 | 28156606 | rs4722758 | No | [JAZF1] | JAZF1 | - |
| 10 | 6093139 | rs12722502 | Yes | [IL2RA] | IL2RA | - |
| 10 | 6621773 | rs943451 | Yes | [PRKCQ] | PRKCQ | - |
| 10 | 94384514 | rs113092121 | Yes | [KIF11] | - | EIF2S2P3, HHEX, KIF11 |
| 11 | 10664033 | rs2052690 | Yes | [MRVI1] | - | RNF141 |
| 11 | 36365253 | rs10836538 | Yes | [PRR5L] | PRR5L | - |
| 11 | 65551957 | rs479844 | No | AP5B1-[]-OVOL1 | OVOL1 | EFEMP2, SNX32 |
| 11 | 76299649 | rs11236797 | No | WNT11—[]-LRRC32 | LRRC32 | - |
| 11 | 128172836 | rs140522418 | No | KIRREL3-AS3—[]—ETS1 | - | ETS1 |
| 12 | 55368291 | rs62623446 | Yes | [TESPA1] | TESPA1 | - |
| 12 | 56389293 | rs705700 | No | [RAB5B] | RPS26,SUOX | - |
| 12 | 112059557 | rs11065979 | No | ATXN2-[]-BRAP | TCTN1,TRAFD1 | SH2B3∗ |
| 12 | 121365431 | rs188074962 | No | SPPL3-[]-HNF1A-AS1 | SPPL3 | - |
| 13 | 99974492 | rs1887704 | Yes | [UBAC2] | - | GPR183, UBAC2 |
| 14 | 103244070 | rs71421264 | No | [TRAF3] | TRAF3 | - |
| 15 | 41787585 | rs1655558 | No | [ITPKA] | - | D-JC17, ITPKA, RTF1, ZFYVE19 |
| 15 | 61069988 | rs11071559 | No | [RORA] | - | RP11-554D20.1 |
| 15 | 67441750 | rs72743461 | No | [SMAD3] | AAGAB | - |
| 15 | 67475764 | rs34445740 | No | [SMAD3] | SMAD3 | - |
| 16 | 11219041 | rs12935657 | No | [CLEC16A] | - | SOCS1 |
| 16 | 27349168 | rs3785356 | Yes | [IL4R] | NSMCE1 | IL4R |
| 16 | 50745926 | rs2066844 | Yes | [NOD2] | NOD2 | - |
| 17 | 38061439 | rs4795399 | No | [GSDMB] | GSDMB,ORMDL3 | GSDMA, IKZF3, RP11-94L15.2, ZPBP2 |
| 17 | 38755021 | rs9893132 | No | CCR7-[]-SMARCE1 | SMARCE1 | - |
| 17 | 43457886 | rs9895436 | No | MAP3K14-[]-ARHGAP27 | CRHR1,CRHR1-IT1,DND1P1,LRRC37A4P,RP11-105N13.4 | - |
| 17 | 47448346 | rs12952581 | No | ZNF652-[]-PHB | GNGT2 | - |
| 18 | 48647640 | rs1893380 | Yes | SMAD4-[]-MEX3C | RP11-729L2.2,SMAD4 | - |
| 18 | 60009814 | rs4574025 | No | [TNFRSF11A] | PIGN | - |
| 18 | 61442619 | rs12964116 | No | [SERPINB7] | SERPINB7 | - |
| 19 | 1152656 | rs892225 | Yes | [SBNO2] | GPX4 | - |
| Sentinel SNPs Identified in the GWAS of AOA | ||||||
| 1 | 167420299 | rs2056625 | No | [CD247] | CD247 | - |
| 2 | 102892339 | rs60227565 | No | IL1RL2-[]-IL18R1 | - | IL18RAP, IL1RL1, MFSD9 |
| 2 | 102926362 | rs12470864 | No | IL1RL2-[]-IL18R1 | IL18R1 | IL18RAP |
| 2 | 242698640 | rs34290285 | No | [D2HGDH] | PDCD1 | - |
| 4 | 123353432 | rs17454584 | No | ADAD1-[]-IL2 | KIAA1109 | - |
| 5 | 35881376 | rs11742240 | No | IL7R-[]-CAPSL | IL7R | - |
| 5 | 131787137 | rs6866614 | No | [IRF1] | AC116366.5, P4HA2, SLC22A5 | IRF1, SLC22A4 |
| 5 | 141518940 | rs10699671 | No | [NDFIP1] | NDFIP1 | - |
| 10 | 6093139 | rs12722502 | Yes | [IL2RA] | IL2RA | - |
| 11 | 76293726 | rs7936312 | No | WNT11–[]-LRRC32 | - | LRRC32 |
| 12 | 48186563 | rs2544026 | No | [HDAC7] | - | HDAC7, RPAP3 |
| 12 | 56449435 | rs7302200 | No | RPS26-[]-ERBB3 | ERBB3, GDF11, IKZF4, RAB5B, RPS26, SUOX | CDK2 |
| 12 | 57489709 | rs1059513 | No | [STAT6] | METTL21B, NAB2, STAT6 | - |
| 13 | 40319954 | rs28635831 | Yes | [COG6] | - | COG6 |
| 13 | 100070457 | rs4771332 | Yes | MIR548AN-[]-TM9SF2 | CCR12P | - |
| 15 | 67441750 | rs72743461 | No | [SMAD3] | AAGAB | - |
a
The pattern used for gene names is as follows. Italic only: genes implicated by an eQTL but not by a non-synonymous variant. Italic and asterisk: genes implicated by a non-synonymous variant but not an eQTL. Italic and underlined: genes implicated by both an eQTL and a non-synonymous variant.