Table 1. Eighteen novel loci associated with FEV1, FVC and FEV1/FVC in CKB.
| Trait | Sentinel SNP | Clump region | N | A1 | A2 | A1 FREQ | BETA | SE | P | Genes within clump region |
|---|---|---|---|---|---|---|---|---|---|---|
| FEV1 | rs145972739 | chr1:200031115-200031115 | 1 | A | G | 0.97 | -0.083 | 0.015 | 4.90E-08 | NR5A2 |
| FEV1 | rs1861229 | chr2:102992079-103208610 | 28 | A | G | 0.52 | 0.026 | 0.005 | 2.60E-08 | IL18R1,IL18RAP,MIR4772,SLC9 A4 |
| FEV1 | rs28695435 | chr2:232797462-233092939 | 181 | G | A | 0.31 | -0.029 | 0.005 | 1.40E-09 | DIS3L2 |
| FEV1 | rs222482 | chr2:42391012-42703861 | 188 | C | T | 0.27 | -0.028 | 0.005 | 4.70E-08 | COX7A2L,EML4,KCNG3,LOC10 2723824 |
| FEV1 | rs112952987 | chr2:42638788-42703942 | 21 | G | A | 0.94 | 0.050 | 0.009 | 3.40E-08 | KCNG3 |
| FEV1 | rs117331805 | chr5:43813683-44687091 | 96 | A | G | 0.94 | -0.076 | 0.010 | 3.50E-15 | FGF10,FGF10-AS1 |
| FEV1 | rs117675260 | chr5:44474070-44623745 | 28 | G | A | 0.96 | -0.069 | 0.012 | 2.10E-08 | Intergenic region |
| FEV1 | rs528366 | chr13:92381450-92572381 | 224 | T | C | 0.78 | -0.030 | 0.005 | 2.30E-08 | GPC5 |
| FEV1 | rs77578670 | chr15:51607186-51645049 | 23 | C | T | 0.75 | -0.028 | 0.005 | 4.60E-08 | CYP19A1,GLDN |
| FVC | rs143944819 | chr2:232797462-233101499 | 185 | A | G | 0.77 | 0.033 | 0.006 | 7.50E-09 | DIS3L2 |
| FVC | rs6442039 | chr3:46902129-47410564 | 158 | C | G | 0.52 | -0.025 | 0.004 | 2.00E-08 | CCDC12,KIF9,KIF9-AS1,KLHL18,MYL3,NBEAL2,NR ADDP,PTH1R,SETD2 |
| FVC | rs78732306 | chr5:44048662-44583962 | 177 | T | C | 0.91 | -0.068 | 0.008 | 5.10E-17 | FGF10,FGF10-AS1 |
| FVC | rs28366282 | chr6:32196697-32713674 | 1767 | C | T | 0.76 | 0.035 | 0.005 | 3.30E-11 | BTNL2,C6orf10,HCG23,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 |
| FVC | rs139447342 | chr6:32396905-32636434 | 661 | C | T | 0.3 | 0.032 | 0.005 | 1.00E-09 | HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 |
| FVC | rs6063386 | chr20:36206453-36273380 | 127 | C | T | 0.33 | 0.030 | 0.005 | 5.00E-10 | LINC00489 |
| FEV1/FVC | rs186784089 | chr5:174393318-174393318 | 1 | G | A | 0.99 | 0.120 | 0.022 | 4.70E-08 | FLJ16171 |
| FEV1/FVC | rs149101418 | chr6:31944375-32113312 | 17 | T | G | 0.55 | 0.035 | 0.005 | 7.50E-13 | ATF6B,C4A,C4B,C4B_2,CYP21A1P,CYP21A2,FKBPL,STK19,TNXA,TNXB |
| FEV1/FVC | rs200214283 | chr6:31976290-32133380 | 4 | C | T | 0.9 | -0.045 | 0.008 | 1.50E-08 | ATF6B,C4A,C4B,C4B_2,CYP21A1P,CYP21A2,EGFL8,FKBPL,LO C100507547,PPT2,PPT2-EGFL8,PRRT1,STK19,TNXA,TNXB |
Note: N is number of variants meet the criteria of P-value<1×10-5 and r2>0.2 within the clump region; A1 is effect allele; A2 is non-effect allele; BETA is BOLT-LMM regression effect size.