Table 3.
Lung Function Variants
Chromosome | Previously Reported Variant |
Lead Variant in Meta-analysis Window |
Linkage Disequilibrium between Previously Reported and Lead Variants |
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---|---|---|---|---|---|---|---|---|
rs ID | Base Position | Nearest Gene | Meta-analysis P Value | rs ID | Meta-analysis P Value | r2 | D′ | |
1 | rs2284746 | 17306675 | MFAP2 | 0.12 | rs3170740 | 0.10 | 0.91 | 0.98 |
1 | rs993925 | 218860068 | TGFB2-LYPLAL1 | 0.56 | rs72738847 | 4.56 × 10−6 | 0.00 | 0.34 |
2 | rs2571445 (rs918949) | 218683153 | TNS1 | 0.07 | rs3791953 | 1.75 × 10−2 | 0.00 | 0.12 |
2 | rs7594321 | 230224031 | DNER | 0.09 | rs12995479 | 0.02 | 0.00 | 0.02 |
2 | rs12477314 | 239877148 | HDAC4-FLJ43879 | 2.37 × 10−3 | rs35877146 | 1.26 × 10−3 | 0.72 | 0.90 |
3 | rs1529672 | 25520582 | RARB | 3.08 × 10−4 | rs1529672 | 3.08 × 10−4 | N/A | N/A |
3 | rs1344555 | 169300219 | MECOM/EVI1 | 0.68 | rs933607 | 2.29 × 10−4 | 0.03 | 0.24 |
4 | rs7671167 | 89883979 | FAM13A | 2.45 × 10−15 | rs4416442 | 1.84 × 10−17 | 0.65 | 0.99 |
4 | rs10516526 | 106688904 | GSTCD/INTS12/NPNT | 7.39 × 10−4 | rs11735213 | 5.12 × 10−5 | 0.67 | 0.91 |
4 | rs1032296 | 145434688 | HHIP | 4.13 × 10−10 | rs13141641 | 1.26 × 10−18 | 0.41 | 0.89 |
5 | rs153916 | 95036700 | SPATA9-RHOBTB3 | 2.90 × 10−3 | rs153916 | 2.90 × 10−3 | N/A | N/A |
5 | rs11168048 | 147842353 | HTR4 | 0.01 | rs17720155 | 4.41 × 10−4 | 0.33 | 0.78 |
5 | rs11134779 (rs1422795) | 156936766 | ADAM19 | 7.98 × 10−3 | rs62390771 | 4.16 × 10−7 | 0.02 | 0.38 |
6 | rs6903823* | 28322296 | ZKSCAN3 | 0.75 | rs3800326 | 0.10 | 0.09 | 1.00 |
6 | rs2857595* | 31568469 | NCR3-AIF1 | 0.71 | rs2844479 | 0.03 | 0.03 | 0.51 |
6 | rs2070600 | 32151443 | AGER/PPT2 | 7.05 × 10−6 | rs2070600 | 7.05 × 10−6 | N/A | N/A |
6 | rs7765379 | 32680928 | HLA-DQB1 | 0.12 | rs9275141 | 5.67 × 10−3 | 0.14 | 1.00 |
6 | rs2798641 | 109268050 | ARMC2 | 1.15 × 10−4 | rs2848598 | 2.06 × 10−5 | 0.31 | 0.89 |
6 | rs3817928 | 142750516 | GPR126 | 5.71 × 10−3 | rs9399401 | 1.91 × 10−4 | 0.63 | 0.96 |
9 | rs16909898 | 98231008 | PTCH1 | 0.12 | rs357523 | 7.77 × 10−3 | 0.47 | 0.73 |
10 | rs7068966 | 12277992 | CDC123 | 0.05 | rs10906083 | 0.03 | 0.01 | 0.13 |
10 | rs11001819 | 78315224 | C10orf11 | 0.39 | rs7904646 | 2.08 × 10−3 | 0.00 | 0.33 |
12 | rs11172113 | 57527283 | LRP1 | 2.28 × 10−4 | rs2122692 | 9.12 × 10−5 | 0.44 | 0.80 |
12 | rs1036429 (rs7307510) | 96271427 | CCDC38 | 6.35 × 10−3 | rs7306887 | 7.35 × 10−4 | 0.13 | 0.87 |
15 | rs12899618 | 71645120 | THSD4 | 0.01 | rs10459646 | 4.37 × 10−7 | 0.09 | 1.00 |
16 | rs12447804 | 58075282 | MMP15 | 0.16 | rs2550370 | 9.55 × 10−3 | 0.03 | 0.63 |
16 | rs2865531 (rs4888380) | 75390315 | CFDP1 | 3.09 × 10−3 | rs37586 | 4.88 × 10−4 | 0.13 | 1.00 |
17 | rs11654749 | 69125606 | KCNJ2 | 0.39 | rs35883109 | 0.01 | 0.00 | 0.08 |
21 | rs9978142 | 35652239 | KCNE2-LINC00310/C21orf82 | 0.98 | rs73205216 | 8.96 × 10−5 | 0.02 | 1.00 |
Definition of abbreviations: D′, normalized coefficient of linkage disequilibrium; N/A, not applicable.
For each previously reported variant and lead variant, the P value refers to the association with moderate-to-severe chronic obstructive pulmonary disease in our analysis. Nominally significant associations (P < 0.05) among previously reported variants are shown in bold. Linkage disequilibrium values (r2 [between-locus correlation coefficient]) between the previously reported variant and the lead variant in meta-analysis window were obtained using data from 1,000 Genomes Project Phase 1 v3. Proxies for variants not available in our dataset are in parentheses, and P values displayed are for the proxy variant.
Risk alleles showing a discordant association direction of effect for chronic obstructive pulmonary disease risk and decreased lung function risk.