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.

GeneVariantsRisk alleleYearEthnicityOR (95% CI)RAF valueCases/controlsPower OR of 1.5FPRP values at prior probability of 0.01/0.001Ref.

CHRNA 3/5rs8034191C2009CaucasianNA0.261.48E − 1018182567[25]
CHRNA 3/5rs1051730T2009CaucasianNA0.275.74E − 1018182567[25]
FAM13Ars1903003C2010CaucasianNA0.439.47E − 1145524582[26]
RAB4B-EGLN2rs7937C2012Caucasian0.73 (0.63–0.83)0.442.88E − 09349919220.9170.000/0.002[27]
MIA-RAB4Brs2604894A2012Caucasian0.74 (0.65–0.84)0.443.41E − 08349919220.9470.000/0.003[27]
FAM13Ars7671167C2012Caucasian0.73 (0.66–0.81)0.492.22E − 09349919220.9560.000/0.000[27]
FAM13Ars1964516C2012Caucasian0.73 (0.66–0.81)0.491.88E − 09349919220.9560.000/0.000[27]
CHRNA3rs12914385T2014Diverse1.28 (1.20–1.36)0.316.38E − 14663357041.0000.000/0.000[28]
FAM13Ars4416442C2014Diverse1.28 (1.20–1.36)0.451.12E − 14663357041.0000.000/0.000[28]
MMP12rs626750G2014Diverse1.36 (1.23–1.51)0.805.35E − 09349757040.9670.000/0.000[28]
HHIPrs13141641T2017Diverse1.22 (1.19–1.26)0.599.10E − 4124754576841.0000.000/0.000[29]
CHRNA5rs17486278C2017Diverse1.18 (1.15–1.22)0.351.77E − 2824754576841.0000.000/0.000[29]
HTR4rs7733088G2017Diverse1.18 (1.14–1.21)0.605.33E − 2624754576841.0000.000/0.000[29]
ADGRG6rs9399401T2017Diverse1.15 (1.12–1.19)0.721.81E − 1924754576841.0000.000/0.000[29]
THSD4rs1441358G2017Diverse1.13 (1.10–1.16)0.338.22E − 1624754576841.0000.000/0.000[29]
FAM13Ars6837671G2017Diverse1.12 (1.09–1.15)0.417.48E − 1524754576841.0000.000/0.000[29]
GSTCDrs11727735A2017Diverse1.26 (1.18–1.33)0.943.84E − 1424754576841.0000.000/0.000[29]
RIN3rs754388C2017Diverse1.15 (1.11–1.20)0.824.96E − 1424754576841.0000.000/0.000[29]
ADAM19rs113897301A2017Diverse1.16 (1.12–1.21)0.171.58E − 1324754576841.0000.000/0.000[29]
TET2rs2047409A2017Diverse1.12 (1.08–1.15)0.622.46E − 1324754576841.0000.000/0.000[29]
EEFSECrs2955083A2017Diverse1.18 (1.13–1.24)0.884.16E − 1324754576841.0000.000/0.000[29]
CFDP1rs7186831A2017Diverse1.12 (1.08–1.16)0.431.12E − 1124754576841.0000.000/0.000[29]
TGFB2rs10429950T2017Diverse1.11 (1.07–1.14)0.731.66E − 1024754576841.0000.000/0.000[29]
AGERrs2070600C2017Diverse1.24 (1.16–1.32)0.955.94E − 1024754576841.0000.000/0.000[29]
ARMC2rs2806356C2017Diverse1.12 (1.08–1.16)0.188.34E − 1024754576841.0000.000/0.000[29]
PID1rs16825267C2017Diverse1.19 (1.12–1.25)0.931.68E − 0924754576841.0000.000/0.000[29]
DSPrs2076295T2017Diverse1.09 (1.06–1.12)0.553.97E − 0924754576841.0000.000/0.000[29]
MTCL1rs647097C2017Diverse1.10 (1.06–1.13)0.276.14E − 0924754576841.0000.000/0.000[29]
RARBrs1529672C2017Diverse1.11 (1.07–1.15)0.832.47E − 0824754576841.0000.003/0.026[29]
SFTPDrs721917G2017Diverse1.08 (1.05–1.11)0.422.49E − 0824754576841.0000.000/0.000[29]
CYP2A6rs12459249C2017Diverse1.10 (1.06–1.14)0.663.42E − 0824754576841.0000.000/0.000[29]
CCDC101rs17707300C2017Diverse1.10 (1.06–1.13)0.37NA24754576841.0000.000/0.000[29]

NA: not available. Risk allele frequency from the dbSNP. The values are all less than 5.00E − 08.