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. 2017 Jul;57(1):35–46. doi: 10.1165/rcmb.2016-0331OC

Table 3.

Lung Function Variants

Chromosome Previously Reported Variant
Lead Variant in Meta-analysis Window
Linkage Disequilibrium between Previously Reported and Lead Variants
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.