Table 1. Genome-wide significant meta-analysis results for local histogram emphysema phenotypes.
LHE pattern | Lead SNP | Chromosome | Position (hg19) | EAF | Effect allele | P value meta | Effect meta | SE effect meta |
---|---|---|---|---|---|---|---|---|
Moderate Centrilobular | rs56077333 | 15 | 78899003 | 0.67 | a | 2.2E-13 | 0.016 | 2.2E-03 |
rs17368582 | 11 | 102738075 | 0.14 | t | 8.1E-12 | 0.024 | 3.5E-03 | |
rs56113850 | 19 | 41353107 | 0.59 | t | 1.5E-09 | −0.016 | 2.6E-03 | |
rs796395 | 1 | 218681971 | 0.52 | a | 6.1E-09 | 0.013 | 2.2E-03 | |
rs138641402 | 4 | 145445779 | 0.38 | a | 3.3E-08 | 0.014 | 2.5E-03 | |
Nonemphysematous (Normal Lung) | rs138641402 | 4 | 145445779 | 0.38 | a | 4.2E-08 | −0.021 | 3.9E-03 |
rs7170068 | 15 | 78912943 | 0.78 | a | 4.8E-12 | 0.028 | 4.0E-03 | |
rs17368659 | 11 | 102742761 | 0.86 | t | 6.3E-11 | 0.036 | 5.4E-03 | |
rs28929474* | 14 | 94844947 | 0.98 | t | 6.2E-09 | −0.071 | 1.2E-02 | |
Panlobular | rs11852372 | 15 | 78801394 | 0.35 | a | 7.1E-12 | −0.003 | 5.0E-04 |
rs76756075* | 11 | 112349844 | 0.02 | t | 2.0E-08 | −0.007 | 1.2E-03 | |
rs78070126* | 11 | 6574608 | 0.97 | t | 2.8E-08 | 0.006 | 1.1E-03 | |
rs145770770 | 2 | 152487808 | 0.99 | a | 3.8E-08 | −0.015 | 2.8E-03 | |
Severe Centrilobular | rs9788721 | 15 | 78802869 | 0.38 | t | 3.4E-15 | −0.005 | 6.0E-04 |
rs379123 | 17 | 30891814 | 0.40 | t | 3.7E-08 | −0.004 | 7.0E-04 |
LHE - local histogram emphysema.
EAF - effect allele frequency in 1000 Genomes CEU population.
*indicates novel association not previously associated in GWAS of COPD or emphysema (rs28929474 was associated to FEV1/FVC in smokers in Li et al., 2018, during preparation of this manuscript).