Table 5.
eQTL and GWAS of RAD50-IL13 region
SNP | Gene | Location | Distance to Gene |
Minor Allele |
Major Allele |
MAF | IL13 expression | RAD50 expression | GWAS | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||||||||
BEC | BAL | BEC | BAL | TENOR | GABRIEL | |||||||||||||
| ||||||||||||||||||
Beta | P value | Beta | P value | Beta | P value | Beta | P value | OR | P value | OR | P value | |||||||
rs4143832 | IL5 | 3′ | −14159 | A | C | 0.23 | −0.22 | 0.18 | 0.20 | 0.25 | 0.18 | 0.27 | 0.26 | 0.13 | 1.23 | 0.05 | 1.07 | 9.9×10−3 |
rs11739623 | IL5 | 3′ | −12984 | T | C | 0.18 | 0.01 | 0.94 | −0.04 | 0.81 | −0.28 | 0.10 | −0.65 | 7.1×10−5 | 0.91 | 0.33 | 0.94 | 4.4×10−3 |
rs2079103 | IL5 | 3′ | −12630 | T | G | 0.33 | −0.14 | 0.32 | −0.01 | 0.96 | 0.25 | 0.07 | 0.27 | 0.08 | 1.06 | 0.52 | 1.06 | 0.02 |
rs17690122 | IL5 | 3′ | −9301 | G | A | 0.17 | −0.06 | 0.74 | 0.22 | 0.26 | 0.19 | 0.31 | 0.25 | 0.19 | 1.22 | 0.06 | NA | NA |
rs743562 | IL5 | 3′ | −4753 | T | C | 0.34 | 0.06 | 0.70 | 0.10 | 0.50 | −0.07 | 0.61 | −0.32 | 0.02 | 1.06 | 0.52 | 0.98 | 0.31 |
rs739719 | IL5 | 3′ | −4271 | T | G | 0.22 | −0.22 | 0.14 | −0.20 | 0.23 | 0.11 | 0.44 | 0.09 | 0.59 | 0.79 | 0.17 | 1.01 | 0.78 |
rs2069812 | IL5 | 5′ | −702 | T | C | 0.43 | −0.10 | 0.45 | −0.10 | 0.50 | −0.13 | 0.33 | −0.58 | 5.8×10−5 | 0.85 | 0.07 | 0.93 | 3.5×10−3 |
rs2244012 | RAD50 | intron | −6166 | C | T | 0.38 | −0.21 | 0.11 | 0.19 | 0.18 | 0.10 | 0.47 | 0.05 | 0.71 | 1.64 | 3.0×10−7 | NA | NA |
rs2301713 | RAD50 | intron | −174 | C | T | 0.29 | −0.15 | 0.34 | 0.29 | 0.07 | 0.13 | 0.42 | 0.23 | 0.16 | 1.59 | 1.5×10−6 | NA | NA |
rs17772583 | RAD50 | intron | −252 | G | A | 0.17 | 0.03 | 0.87 | −0.01 | 0.96 | −0.37 | 0.04 | −0.85 | 7.4×10−7 | 0.89 | 0.23 | 0.92 | 3.4×10−4 |
rs3798134 | RAD50 | intron | −7628 | T | C | 0.30 | −0.18 | 0.21 | 0.33 | 0.03 | 0.12 | 0.44 | 0.19 | 0.23 | 1.59 | 1.5×10−6 | NA | NA |
rs2237060 | RAD50 | intron | −1922 | C | A | 0.29 | 0.16 | 0.29 | −0.26 | 0.11 | 0.09 | 0.55 | 0.38 | 0.02 | 0.88 | 0.12 | 0.95 | 0.02 |
rs1881457 | IL13 | 5′ | −1456 | C | A | 0.23 | 0.02 | 0.89 | 0.38 | 0.02 | 0.14 | 0.36 | 0.26 | 0.10 | NA | NA | NA | NA |
rs1295686 | IL13 | intron | −24 | A | G | 0.42 | −0.08 | 0.55 | 0.20 | 0.18 | 0.05 | 0.73 | 0.06 | 0.67 | 1.45 | 2.2×10−4 | 1.15 | 1.4×10−8 |
rs20541 | IL13 | coding | 97_10 | T | C | 0.25 | 0.05 | 0.76 | 0.32 | 0.07 | 0.17 | 0.27 | 0.12 | 0.48 | 1.44 | 2.5×10−4 | 1.15 | 2.0×10−8 |
rs1295685 | IL13 | 3UTR | 470_356 | T | C | 0.21 | −0.04 | 0.80 | 0.31 | 0.08 | 0.19 | 0.25 | 0.20 | 0.26 | 1.49 | 7.4×10−5 | NA | NA |
rs848 | IL13 | 3UTR | 525_301 | T | G | 0.38 | 0.00 | 0.99 | 0.21 | 0.18 | 0.10 | 0.51 | 0.06 | 0.71 | 1.49 | 7.6×10−5 | NA | NA |
rs2243204 | IL13 | 3′ | −2693 | T | C | 0.26 | −0.04 | 0.81 | 0.00 | 0.98 | −0.07 | 0.64 | −0.11 | 0.50 | 1.69 | 1.3×10−4 | 1.19 | 5.3×10−7 |
rs2243248 | IL4 | 5′ | −729 | G | T | 0.11 | 0.43 | 0.05 | −0.04 | 0.89 | 0.06 | 0.79 | 0.05 | 0.83 | 0.91 | 0.52 | 1.00 | 0.91 |
rs2070874 | IL4 | 5UTR | 337_32 | T | C | 0.28 | −0.07 | 0.61 | 0.12 | 0.41 | 0.16 | 0.24 | 0.08 | 0.60 | 1.12 | 0.34 | NA | NA |
rs2243268 | IL4 | intron | −1443 | C | A | 0.23 | −0.04 | 0.80 | 0.11 | 0.50 | 0.19 | 0.19 | 0.19 | 0.23 | 1.11 | 0.38 | NA | NA |
rs2243290 | IL4 | intron | −9 | A | C | 0.25 | −0.02 | 0.88 | 0.10 | 0.52 | 0.14 | 0.34 | 0.14 | 0.36 | 1.11 | 0.38 | 1.08 | 5.5×10−3 |
SNPs were in two separate linkage disequilibrium blocks (r2>0.5). Block 1 includes rs11739623, rs2069812, and rs17772583. Block 2 includes rs2244012, rs2301713, rs3798134, rs1881457, rs1295686, rs20541, rs1295685, rs848, and rs2243204.