Table 1. Association results for the three most significantly associated loci.
Gene | Locus | SNP | SNP function | coded allele | Coded allele frequency | N eff | Beta | Se | P |
FEV1 All individuals | |||||||||
MACROD2 | 20p12.1 | rs204652 | Intron | G | 0.983 | 13551 | −0.187 | 0.047 | 6.81×10−5 |
CNTN5 | 11q21-q22.2 | rs17133553 | Intron | T | 0.966 | 13669 | −0.100 | 0.029 | 4.37×10−4 |
MTHFD1L | 6q25.1 | rs803450 | Intron | G | 0.625 | 18497 | 0.036 | 0.011 | 1.03×10−3 |
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 | 10829 | −0.069 | 0.018 | 1.22×10−4 |
MACROD2 | 20p12.1 | rs204652 | Intron | G | 0.983 | 6872 | −0.251 | 0.067 | 1.67×10−4 |
FEV1/FVC All individuals | |||||||||
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 |
CNTN5 | 11q21-q22.2 | rs1216170 | Intron | C | 0.284 | 18863 | 0.039 | 0.011 | 6.02×10−4 |
FEV1/FVC Smokers | |||||||||
ESR1 | 6q25.1 | rs9322335 | Intron | T | 0.217 | 9495 | −0.061 | 0.018 | 5.42×10−4 |
RHBDD1 | 2q36.3 | rs1864271 | Intron | G | 0.708 | 7385 | 0.066 | 0.019 | 6.40×10−4 |
MTHFD1L | 6q25.1 | rs1738567 | Intron | C | 0.367 | 10668 | 0.046 | 0.014 | 1.33×10−3 |
The table shows the three most significant loci associated with FEV1 and FEV1/FVC ratio in all individuals and ever-Smokers. 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. MACROD2: MACRO domain containing 2. CNTN5: Contactin 5. MTHFD1L Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like. SERPINA1: serpin peptidase inhibitor, clade A, member 1 (alpha-1 antitrypsin AAT). PDE4D: Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila). ABCC1: ATP-binding cassette, sub-family C, member 1. ESR1: estrogen receptor 1. RHBDD1: rhomboid domain containing 1.