Canadian Respiratory Journal / 2022 / Article / Tab 2 / Review Article
Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies Table 2 Statistically significant variants from GWASs.
Gene Variants Risk allele Year Ethnicity OR (95% CI) RAF† value‡ Cases/controls Power OR of 1.5 FPRP values at prior probability of 0.01/0.001 Ref. CHRNA 3/5 rs8034191 C 2009 Caucasian NA 0.26† 1.48E − 10 1818 2567 — — [25 ] CHRNA 3/5 rs1051730 T 2009 Caucasian NA 0.27† 5.74E − 10 1818 2567 — — [25 ] FAM13A rs1903003 C 2010 Caucasian NA 0.43† 9.47E − 11 4552 4582 — — [26 ] RAB4B-EGLN2 rs7937 C 2012 Caucasian 0.73 (0.63–0.83) 0.44 2.88E − 09 3499 1922 0.917 0.000/0.002 [27 ] MIA-RAB4B rs2604894 A 2012 Caucasian 0.74 (0.65–0.84) 0.44 3.41E − 08 3499 1922 0.947 0.000/0.003 [27 ] FAM13A rs7671167 C 2012 Caucasian 0.73 (0.66–0.81) 0.49 2.22E − 09 3499 1922 0.956 0.000/0.000 [27 ] FAM13A rs1964516 C 2012 Caucasian 0.73 (0.66–0.81) 0.49 1.88E − 09 3499 1922 0.956 0.000/0.000 [27 ] CHRNA3 rs12914385 T 2014 Diverse 1.28 (1.20–1.36) 0.31† 6.38E − 14 6633 5704 1.000 0.000/0.000 [28 ] FAM13A rs4416442 C 2014 Diverse 1.28 (1.20–1.36) 0.45† 1.12E − 14 6633 5704 1.000 0.000/0.000 [28 ] MMP12 rs626750 G 2014 Diverse 1.36 (1.23–1.51) 0.80† 5.35E − 09 3497 5704 0.967 0.000/0.000 [28 ] HHIP rs13141641 T 2017 Diverse 1.22 (1.19–1.26) 0.59 9.10E − 41 24754 57684 1.000 0.000/0.000 [29 ] CHRNA5 rs17486278 C 2017 Diverse 1.18 (1.15–1.22) 0.35 1.77E − 28 24754 57684 1.000 0.000/0.000 [29 ] HTR4 rs7733088 G 2017 Diverse 1.18 (1.14–1.21) 0.60 5.33E − 26 24754 57684 1.000 0.000/0.000 [29 ] ADGRG6 rs9399401 T 2017 Diverse 1.15 (1.12–1.19) 0.72 1.81E − 19 24754 57684 1.000 0.000/0.000 [29 ] THSD4 rs1441358 G 2017 Diverse 1.13 (1.10–1.16) 0.33 8.22E − 16 24754 57684 1.000 0.000/0.000 [29 ] FAM13A rs6837671 G 2017 Diverse 1.12 (1.09–1.15) 0.41 7.48E − 15 24754 57684 1.000 0.000/0.000 [29 ] GSTCD rs11727735 A 2017 Diverse 1.26 (1.18–1.33) 0.94 3.84E − 14 24754 57684 1.000 0.000/0.000 [29 ] RIN3 rs754388 C 2017 Diverse 1.15 (1.11–1.20) 0.82 4.96E − 14 24754 57684 1.000 0.000/0.000 [29 ] ADAM19 rs113897301 A 2017 Diverse 1.16 (1.12–1.21) 0.17 1.58E − 13 24754 57684 1.000 0.000/0.000 [29 ] TET2 rs2047409 A 2017 Diverse 1.12 (1.08–1.15) 0.62 2.46E − 13 24754 57684 1.000 0.000/0.000 [29 ] EEFSEC rs2955083 A 2017 Diverse 1.18 (1.13–1.24) 0.88 4.16E − 13 24754 57684 1.000 0.000/0.000 [29 ] CFDP1 rs7186831 A 2017 Diverse 1.12 (1.08–1.16) 0.43 1.12E − 11 24754 57684 1.000 0.000/0.000 [29 ] TGFB2 rs10429950 T 2017 Diverse 1.11 (1.07–1.14) 0.73 1.66E − 10 24754 57684 1.000 0.000/0.000 [29 ] AGER rs2070600 C 2017 Diverse 1.24 (1.16–1.32) 0.95 5.94E − 10 24754 57684 1.000 0.000/0.000 [29 ] ARMC2 rs2806356 C 2017 Diverse 1.12 (1.08–1.16) 0.18 8.34E − 10 24754 57684 1.000 0.000/0.000 [29 ] PID1 rs16825267 C 2017 Diverse 1.19 (1.12–1.25) 0.93 1.68E − 09 24754 57684 1.000 0.000/0.000 [29 ] DSP rs2076295 T 2017 Diverse 1.09 (1.06–1.12) 0.55 3.97E − 09 24754 57684 1.000 0.000/0.000 [29 ] MTCL1 rs647097 C 2017 Diverse 1.10 (1.06–1.13) 0.27 6.14E − 09 24754 57684 1.000 0.000/0.000 [29 ] RARB rs1529672 C 2017 Diverse 1.11 (1.07–1.15) 0.83 2.47E − 08 24754 57684 1.000 0.003/0.026 [29 ] SFTPD rs721917 G 2017 Diverse 1.08 (1.05–1.11) 0.42 2.49E − 08 24754 57684 1.000 0.000/0.000 [29 ] CYP2A6 rs12459249 C 2017 Diverse 1.10 (1.06–1.14) 0.66 3.42E − 08 24754 57684 1.000 0.000/0.000 [29 ] CCDC101 rs17707300 C 2017 Diverse 1.10 (1.06–1.13) 0.37 NA 24754 57684 1.000 0.000/0.000 [29 ]
NA: not available.
† Risk allele frequency from the dbSNP.
‡ The
values are all less than 5.00
E − 08.