Table 2. Association results for the most significant loci excluding genes identified in GWAS.
gene | locus | SNP | SNP function | coded allele | Coded allele Frequency | N eff | Beta | se | P |
FEV1 All | |||||||||
PDE4D | 5q12 | rs172362 | Intron | C | 0.133 | 18929 | −0.048 | 0.015 | 1.36×10−3 |
TRPV4 | 12q24.1 | rs3742030 | Missense | G | 0.992 | 17591 | −0.110 | 0.035 | 1.58×10−3 |
NAT2 | 8p22 | rs6988857 | Intergenic | T | 0.241 | 20080 | 0.035 | 0.011 | 2.37×10−3 |
FEV1 Smokers | |||||||||
SERPINA1 | 14q32.13 | rs3748312 | Intron | T | 0.167 | 9338 | 0.085 | 0.022 | 8.41×10−5 |
PDE4D | 5q12 | rs298028 | Intron | T | 0.283 | 20829 | −0.069 | 0.018 | 1.22×10−4 |
BCL2 | 18q21.3 | rs2850760 | Intron | T | 0.425 | 10888 | 0.050 | 0.014 | 4.66×10−4 |
FEV1/FVC All | |||||||||
ABCC1 | 16p13.1 | rs3887893 | Intron | T | 0.625 | 15509 | −0.043 | 0.012 | 4.38×10−4 |
ESR1 | 6q25.1 | rs11155818 | Intron | G | 0.992 | 12571 | 0.185 | 0.053 | 5.02×10−4 |
AIF1 | 6p21.3 | rs3132451 | 5′near gene | G | 0.883 | 19889 | 0.045 | 0.014 | 7.84×10−4 |
FEV1/FVC Smokers | |||||||||
ESR1 | 6q25.1 | rs9322335 | Intron | T | 0.217 | 9495 | −0.061 | 0.018 | 5.42×10−4 |
ABCC1 | 16p13.1 | rs3887893 | Intron | T | 0.625 | 8156 | −0.054 | 0.017 | 1.36×10−3 |
CD22 | 19q13.1 | rs7251526 | Intron | T | 0.246 | 8328 | −0.054 | 0.018 | 2.00×10−3 |
The table shows association results for the three most significant loci associated with FEV1 and FEV1/FVC, in all individuals and in ever-smokers after excluding genes identified in GWAS. N eff: the effective sample size. Beta: regression coefficient on a transformed scale. Se: standard error. P: P value. Coded allele frequency based on HapMap Release 24. PDE4D: Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila). TRPV4: transient receptor potential cation channel, subfamily V, member 4. NAT2: N-acetyltransferase 2. SERPINA1: serpin peptidase inhibitor, clade A, member 1 (alpha-1 antitrypsin AAT). BCL2: B-cell CLL/lymphoma 2. ABCC1: ATP-binding cassette, sub-family C, member 1. AIF1: allograft inflammatory factor 1. ESR1: estrogen receptor 1. CD22: cluster of differentiation; CD22 molecule.