Table 1.
Top 20 SNPs (p < 1 × 10− 5) for association with the pulmonary function in genome-wide association study
| SNP | Chr band | Chr: BP | P-value | Genes | Nearest gene/Functional gene | Functional annotation |
|---|---|---|---|---|---|---|
| FEV1 | ||||||
| rs80345886 | 5p13.1 | 5:41975016 | 8.45E-10 | MTHFD2P6 | ||
| rs117883876 | 5p13.3 | 5:41981801 | 8.45E-10 | MTHFD2P6 | ||
| rs75139439 | 4q13.3 | 4:75872722 | 2.31E-09 | PARM1 | ||
| rs116821226 | 3q29 | 3:195195328 | 5.14E-08 | PDX1,PRRX2 | TF | |
| rs191296044 | 5p13.1 | 5:41543923 | 5.23E-08 | PLCXD3 | ||
| rs34982522 | 5p15.2 | 5:14026049 | 5.88E-08 | DNAH5 | Enhancer | |
| rs78238888 | 5p15.2 | 5:14010246 | 5.88E-08 | DNAH5 | Enhancer | |
| rs78628444 | 5p15.2 | 5:14012334 | 5.88E-08 | DNAH5 | Enhancer | |
| rs4723047 | 7p14.3 | 7:31139332 | 8.25E-08 | ADCYAP1R1 | ||
| rs2284225 | 7p14.3 | 7:31138503 | 8.79E-08 | ADCYAP1R1 | ||
| rs1008385 | 7p14.3 | 7:31151579 | 1.05E-07 | PRRX2 | TF | |
| rs781590047 | Xq26.1 | 23:128565706 | 1.06E-07 | RNA5SP513 | ||
| rs35031103 | 3q26.32 | 3:176086799 | 1.28E-07 | RP11-71G7.1 | ||
| rs6954589 | 7p14.3 | 7:31147965 | 1.34E-07 | ADCYAP1R1 | ||
| rs4540319 | 7p14.3 | 7:31149053 | 1.47E-07 | ADCYAP1R1 | ||
| rs4503014 | 7p14.3 | 7:31149140 | 1.47E-07 | ADCYAP1R1 | ||
| rs4723046 | 7p14.3 | 7:31139200 | 1.6E-07 | ADCYAP1R1 | ||
| rs10462025 | 5p13.1 | 5:41820770 | 1.62E-07 | OXCT1 | ||
| rs2302476 | 7p14.3 | 7:31146455 | 1.67E-07 | ADCYAP1R1 | ||
| rs117091220 | 5p14.1 | 5:27267776 | 1.8E-07 | CTD-3007L5.1 | ||
| FVC | ||||||
| rs9403380 | 6q24.1-6q24.2 | 6:142652416 | 1.27E-07 | GPR126 | ||
| rs116821226 | 3q29 | 3:195195328 | 1.30E-07 | PDX1,PRRX2 | TF | |
| rs4540319 | 7p14.3 | 7:31149053 | 1.48E-07 | ADCYAP1R1 | ||
| rs4503014 | 7p14.3 | 7:31149140 | 1.48E-07 | ADCYAP1R1 | ||
| rs972982 | 6q24.1-6q24.2 | 6:142666861 | 1.65E-07 | GPR126 | ||
| rs9496346 | 6q24.1-6q24.2 | 6:142669338 | 1.65E-07 | GPR126 | ||
| rs6686611 | 1q42.12 | 1:225610906 | 2.05E-07 | LBR | ||
| rs1008385 | 7p14.3 | 7:31151579 | 2.44E-07 | PRRX2 | TF | |
| rs6954589 | 7p14.3 | 7:31147965 | 2.63E-07 | ADCYAP1R1 | ||
| rs78275852 | 19q12 | 19:29708754 | 3.29E-07 | UQCRFS1 | ||
| rs2302476 | 7p14.3 | 7:31146455 | 3.44E-07 | ADCYAP1R1 | ||
| rs6937121 | 6q24.1-6q24.2 | 6:142707133 | 3.69E-07 | GPR126 | ||
| rs80345886 | 5p13.1 | 5:41975016 | 3.71E-07 | MTHFD2P69 | ||
| rs117883876 | 5p13.1 | 5:41981801 | 3.71E-07 | MTHFD2P69 | ||
| rs9389985 | 6q24.1-6q24.2 | 6:142653898 | 3.99E-07 | GPR126 | ||
| rs2039986 | 6q24.1-6q24.2 | 6:142655238 | 3.99E-07 | GPR126 | ||
| rs1891308 | 6q24.1-6q24.2 | 6:142648235 | 4.29E-07 | GPR126 | ||
| rs2050157 | 6q24.1-6q24.2 | 6:142658162 | 5.27E-07 | GPR126 | ||
| rs6570507 | 6q24.1-6q24.2 | 6:142679572 | 5.27E-07 | GPR126 | ||
| rs7741741 | 6q24.1-6q24.2 | 6:142655801 | 5.28E-07 | GPR126 | ||
| FEV1/FVC | ||||||
| rs61918244 | 12p13.31 | 12:6403174 | 2.86E-07 | PLEKHG6 | Enhancer | |
| rs61918203 | 12p13.31 | 12:6396589 | 6.47E-07 | PLEKHG6 | Enhancer | |
| rs144870434 | 10q23.1 | 10:85877161 | 1.04E-06 | GHITM | Enhancer | |
| rs111457230 | 12p13.31 | 12:6399669 | 1.57E-06 | PLEKHG6 | Enhancer | |
| rs113872288 | 12p13.31 | 12:6399666 | 1.57E-06 | PLEKHG6 | Enhancer | |
| rs1366756831 | 11p15.2 | 11:13815376 | 1.77E-06 | LINC02548 | ||
| rs16932500 | 12p13.31 | 12:6394730 | 1.95E-06 | PLEKHG6 | Enhancer | |
| rs1990385 | 12p13.31 | 12:6394635 | 1.96E-06 | PLEKHG6 | Enhancer | |
| rs1990386 | 12p13.31 | 12:6394443 | 1.96E-06 | PLEKHG6 | Enhancer | |
| rs61918201 | 12p13.31 | 12:6394883 | 1.96E-06 | PLEKHG6 | Enhancer | |
| rs4862535 | 4q35.1 | 4:186397351 | 2.13E-06 | CCDC110 | eQTL(lung) | |
| rs61918243 | 12p13.31 | 12:6402906 | 2.14E-06 | PLEKHG6 | Enhancer | |
| rs60560940 | 12p13.31 | 12:6402471 | 2.15E-06 | PLEKHG6 | Enhancer | |
| rs61918242 | 12p13.31 | 12:6402692 | 2.15E-06 | PLEKHG6 | Enhancer | |
| rs2363884 | 12p13.31 | 12:6394322 | 2.26E-06 | PLEKHG6 | Enhancer | |
| rs1178679169 | 12p13.31 | 12:6398519 | 2.43E-06 | PLEKHG6 | Enhancer | |
| rs61918206 | 12p13.31 | 12:6401304 | 2.59E-06 | PLEKHG6 | Enhancer | |
| rs4950744 | 1q32.1 | 1:201923383 | 2.75E-06 | TIMM17A | eQTL(lung) | |
| rs891603236 | 16q23.2 | 16:80616315 | 2.81E-06 | LINC01227 | ||
| rs11615534 | 12p13.31 | 12:6409706 | 2.87E-06 | PLEKHG6 |
eQTL: expression Quantitative Trait Loci; TF: Transcription Factor