Gene Symbol | SNP | Major/Minor Allele | Minor Allele Frequency | Association in NETT (Effect of Variant Genotype) | Other Reported COPD Association(s) |
---|---|---|---|---|---|
EPHX1 | rs1051740 (Tyr113His) | T/C | 0.31 | Less maximum work[42] | Associations with discordant directions; meta-analysis with a protective effect of the variant allele[55] |
 | rs2234922 (His139Arg) | A/G | 0.19 | Decreased risk of COPD [9]; Lesser degree of apical minus basilar emphysema [22]; increased DLCO[42], less maximum work after LVRS[56] | Wild type with variant type rs1051740, associated with lung function decline[12] |
GSTP1 | rs1695 (aka rs947894) | A/G | 0.36 | Lesser degree of apical and apical minus basilar emphysema [22] | Associations with discordant directions [57] |
SERPINE2 | rs6734100 | C/G | 0.15 | Â | Case-control and family-based; variant less common in cases[28] |
 | rs6747096 | A/G | 0.19 | Protection from COPD [27] |  |
 | rs975278 | C/T | 0.20 | Decreased apical emphysema [22] | Decreased risk of COPD [28] |
SFTPB | rs1130866 (Thr131Ile) | A/G | 0.46 | Associated with COPD, in the presence of a gene-by- environment interaction[9]; fewer exacerbations[23] | |
 | rs2118177 | T/C | 0.35 | Fewer exacerbations[23] |  |
 | rs2304566 | T/C | 0.25 | Fewer exacerbations[23] |  |
 | rs3024791 | C/T | 0.16 | Fewer exacerbations[23] |  |
TGFB1 | rs1800470 (aka rs1982073) (Leu10Pro) | A/G | 0.39 | Decreased risk of COPD [59]; lower FEV1 within emphysema subjects[48]; increased apical emphysema[22]; decreased airway wall thickness (unpublished observations) | |
 | rs1800469 | G/A | 0.30 | Decreased risk of COPD[59]; lower FEV1 within emphysema subjects[48]; greater dyspnea symptoms [42]; increased apical emphysema[22] |  |