Table 5.
Results for Published Candidate Genes in the Variant Segregation Analysis and Case–Control Association Analysis
| Gene | Source | EOCOPD (No. of Pedigrees) | SNP Location | COPDGene P Value | Effect |
|---|---|---|---|---|---|
| CCDC38 | Lung function | 1 | 12-96272113 | 0.0457 | Protective |
| DNER | Lung function | 1 | 2-230231749 | 0.6453 | Deleterious |
| EGLN2 | COPD | 1 | 19-41307024 | 0.9071 | Protective |
| FAM13A | COPD | 1 | 4-89950680 | 0.6424 | Deleterious |
| GPR126 | Lung function | 1 | 6-142723802 | 0.9141 | Deleterious |
| MECOM | Lung function | 1 | 3-169099162 | 0.0588 | Protective |
| NMBR | Lung function | 1 | 6-142409506 | 0.7902 | Deleterious |
| KCNJ2 | Lung function | 1 | 17-68171232 | — | — |
| CYP2A6 | COPD | 0 | — | 0.0021 | Protective |
| RHOBTB3 | Lung function | 0 | — | 0.0382 | Protective |
| THSD4 | Lung function | 0 | — | 0.0330 | Protective |
| ZNF323 | Lung function | 0 | — | 0.0347 | Protective |
Definition of abbreviations: COPD = chronic obstructive pulmonary disease; EOCOPD = Early-Onset Chronic Obstructive Pulmonary Disease Study; SNP = single-nucleotide polymorphism.
Genes that are segregating in at least one EOCOPD pedigree or have a P value less than 0.05 using the T5 test in the COPDGene dataset are listed here. No. of Pedigrees indicates the number of pedigrees with a segregating variant. COPDGene P value refers to the result from the T5 test.