TABLE 1.
18 novel loci associated with forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC in the China Kadoorie Biobank
| Trait | Sentinel SNP | Clump region | N | A1 | A2 | A1 FREQ | BETA | se | p-value | Genes within clump region |
| FEV1 | rs145972739 | chr1:200031115 –200031115 |
1 | A | G | 0.97 | −0.083 | 0.015 | 4.90×10−8 | NR5A2 |
| rs1861229 | chr2:102992079 –103208610 |
28 | A | G | 0.52 | 0.026 | 0.005 | 2.60×10−8 | IL18R1, IL18RAP, MIR4772, SLC9A4 | |
| rs28695435 | chr2:232797462 –233092939 |
181 | G | A | 0.31 | −0.029 | 0.005 | 1.40×10−9 | DIS3L2 | |
| rs222482 | chr2:42391012 –42703861 |
188 | C | T | 0.27 | −0.028 | 0.005 | 4.70×10−8 | COX7A2L, EML4, KCNG3, LOC102723824 | |
| rs112952987 | chr2:42638788 –42703942 |
21 | G | A | 0.94 | 0.050 | 0.009 | 3.40×10−8 | KCNG3 | |
| rs117331805 | chr5:43813683 –44687091 |
96 | A | G | 0.94 | −0.076 | 0.010 | 3.50×10−15 | FGF10, FGF10-AS1 | |
| rs117675260 | chr5:44474070 –44623745 |
28 | G | A | 0.96 | −0.069 | 0.012 | 2.10×10−8 | Intergenic region | |
| rs528366 | chr13:92381450 –92572381 |
224 | T | C | 0.78 | −0.030 | 0.005 | 2.30×10−8 | GPC5 | |
| rs77578670 | chr15:51607186 –51645049 |
23 | C | T | 0.75 | −0.028 | 0.005 | 4.60×10−8 | CYP19A1, GLDN | |
| FVC | rs143944819 | chr2:232797462 –233101499 |
185 | A | G | 0.77 | 0.033 | 0.006 | 7.50×10−9 | DIS3L2 |
| rs6442039 | chr3:46902129 –47410564 |
158 | C | G | 0.52 | −0.025 | 0.004 | 2.00×10−8 | CCDC12, KIF9, KIF9-AS1, KLHL18, MYL3, NBEAL2, NRADDP, PTH1R, SETD2 | |
| rs78732306 | chr5:44048662 –44583962 |
177 | T | C | 0.91 | −0.068 | 0.008 | 5.10×10−17 | FGF10, FGF10-AS1 | |
| rs28366282 | chr6:32196697 –32713674 |
1767 | C | T | 0.76 | 0.035 | 0.005 | 3.30×10−11 | BTNL2, C6orf10, HCG23, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6 | |
| rs139447342 | chr6:32396905 –32636434 |
661 | C | T | 0.3 | 0.032 | 0.005 | 1.00×10−9 | HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6 | |
| rs6063386 | chr20:36206453 –36273380 |
127 | C | T | 0.33 | 0.030 | 0.005 | 5.00×10−10 | LINC00489 | |
| FEV1/FVC | rs186784089 | chr5:174393318 –174393318 |
1 | G | A | 0.99 | 0.120 | 0.022 | 4.70×10−8 | FLJ16171 |
| rs149101418 | chr6:31944375 –32113312 |
17 | T | G | 0.55 | 0.035 | 0.005 | 7.50×10−13 | ATF6B,C4A, C4B, C4B_2, CYP21A1P, CYP21A2, FKBPL, STK19, TNXA, TNXB | |
| rs200214283 | chr6:31976290 –32133380 |
4 | C | T | 0.9 | −0.045 | 0.008 | 1.50×10−8 | ATF6B, C4A, C4B, C4B_2, CYP21A1P, CYP21A2, EGFL8, FKBPL, LOC100507547, PPT2, PPT2-EGFL8, PRRT1, STK19, TNXA, TNXB |
SNP: single nucleotide polymorphism; N: number of variants meeting the criteria of p<1×10−5 and r2>0.2 within the clump region; A1: effect allele; A2: noneffect allele; BETA: BOLT-LMM regression effect size.