Table 3.
Genome-wide significant loci by cross-trait meta-analysis at sentinel SNPs associated with COPD and HBP (Pmeta < 5 × 10− 8; single trait P < 0.01)
| Sentinel SNP | CHR | N | Position | P HBP | P COPD | P META | Variant annotation | Genes within clumping region |
|---|---|---|---|---|---|---|---|---|
| rs12759054 | 1 | 72 | chr1:234091759–234,196,884 | 1.2 × 10−6 | 5.78 × 10−3 | 4.88 × 10−8 | Intron | SLC35F3 |
| rs301819 | 1 | 99 | chr1:8440643–8,895,970 | 1.3 × 10−10 | 5.47 × 10−3 | 9.93 × 10−12 | Intron | RERE |
| rs305221 | 1 | 115 | chr1:88899115–89,440,896 | 3.7 × 10−10 | 5.32 × 10−4 | 2.91 × 10−12 | Intron | CCBL2, GTF2B, LOC101927891, PKN2 |
| rs61781370 | 1 | 97 | chr1:39554034–40,060,025 | 9.0 × 10−8 | 6.66 × 10−3 | 7.47 × 10−9 | Upstream gene | BMP8A, KIAA0754, MACF1, PABPC4, PPIEL, SNORA55 |
| rs71636784 | 1 | 198 | chr1:26994245–27,298,564 | 3.60 × 10−10 | 0.002705 | 6.41 × 10−12 | Intron | ARID1A, GPATCH3, GPN2, KDF1, NR0B2, NUDC, PIGV, SFN, ZDHHC18 |
| rs2293947 | 3 | 153 | chr3:127620467–128,349,376 | 1.0 × 10−8 | 1.96 × 10−3 | 9.09 × 10−10 | Intron | C3orf27, DNAJB8, DNAJB8-AS1, EEFSEC, GATA2, KBTBD12, LOC90246, RPN1, RUVBL1, SEC61A1 |
| rs6799272 | 3 | 163 | chr3:157977793–158,421,824 | 2.0 × 10−8 | 2.55 × 10−3 | 1.22 × 10−9 | Intron | GFM1, LOC100996447, LXN, MLF1, RARRES1, RSRC1 |
| rs2869966 | 4 | 135 | chr4:89750361–90,028,653 | 2.20 × 10−3 | 1.11 × 10−14 | 2.73 × 10−14 | Intron | FAM13A |
| rs7655625 | 4 | 111 | chr4:145228728–145,974,688 | 7.10 × 10−3 | 3.02 × 10−19 | 9.69 × 10−19 | Intergenic | ANAPC10, HHIP, HHIP-AS1 |
| rs7733088 | 5 | 66 | chr5:147682118–147,856,522 | 1.50 × 10−3 | 4.41 × 10−14 | 1.26 × 10−13 | Intron | FBXO38, HTR4, LOC102546294, SPINK7, SPINK9 |
| rs9399401 | 6 | 15 | chr6:142652344–142,865,106 | 4.20 × 10−3 | 3.59 × 10−10 | 9.38 × 10−10 | Intron | GPR126, LOC153910 |
| rs11771259 | 7 | 73 | chr7:7174042–7,348,633 | 1.60 × 10−15 | 6.16 × 10−4 | 6.66 × 10−18 | Intron | C1GALT1, LOC101927354 |
| rs36044436 | 7 | 40 | chr7:74027839–74,140,925 | 7.40 × 10−10 | 3.77 × 10−3 | 4.87 × 10−11 | Intron | GTF2I, LOC101926943 |
| rs633185 | 11 | 256 | chr11:100421331–100,713,227 | 1.90 × 10−48 | 1.63 × 10− 4 | 1.80 × 10− 47 | Intron | ARHGAP42 |
| rs11168245 | 12 | 125 | chr12:47981942–48,212,719 | 1.20 × 10−9 | 6.23 × 10−3 | 7.26 × 10−11 | Intron | ENDOU, HDAC7, RAPGEF3, RPAP3, SLC48A1 |
| rs1549306 | 16 | 95 | chr16:75304623–75,491,327 | 4.0 × 10−9 | 7.61 × 10−4 | 3.36 × 10−11 | Intron | CFDP1, TMEM170A |
| rs200528 | 16 | 58 | chr16:24699511–24,879,963 | 1.70 × 10−7 | 1.86 × 10−3 | 1.37 × 10−8 | Intron | SLC5A11, TNRC6A |
| rs4787486 | 16 | 26 | chr16:29958216–30,093,779 | 1.10 × 10−8 | 8.61 × 10−3 | 7.10 × 10−9 | Intron | ALDOA, C16orf92, DOC2A, FAM57B, HIRIP3, INO80E, PPP4C, TAOK2, TMEM219 |
| rs55804009 | 18 | 72 | chr18:1840658–1,902,417 | 9.0 × 10−9 | 7.36 × 10−3 | 6.62 × 10−10 | Intergenic | LINC00470* |
| rs13040716 | 20 | 44 | chr20:30660621–31,035,129 | 1.20 × 10−5 | 3.36 × 10−5 | 4.0 × 10−8 | Downstream gene | ASXL1, HCK, KIF3B, NOL4L, PLAGL2, POFUT1, TM9SF4, TSPY26P |
| rs12627514 | 21 | 29 | chr21:44740327–44,824,964 | 1.70 × 10−12 | 7.55 × 10−3 | 2.82 × 10−14 | Intergenic | LINC00322 |
| rs229340 | 21 | 173 | chr21:44914815–45,133,868 | 6.10 × 10−11 | 9.87 × 10−3 | 1.57 × 10−11 | Intron | HSF2BP, MIR6070, RRP1B |
SNP single nucleotide polymorphisms, CHR chromosome, HBP high blood pressure, COPD chronic obstructive pulmonary disease