TABLE 2.
TEN CANDIDATE GENES INCLUDED AS POTENTIAL MODIFIERS OF COPD IN α1-ANTITRYPSIN DEFICIENCY
| Gene | Chromosome | Previous Association with Asthma | Previous Association with COPD | Number of SNPs Genotyped |
|---|---|---|---|---|
| IL10 | 1 | Yes (6, 10, 11) | Yes (4) | 11 |
| EPHX1 | 1 | No | Yes (22–24) | 9 |
| SFTPB | 2 | No | Yes (32, 33) | 1 |
| SERPINE2 | 2 | No | Yes (25) | 14 |
| TNF | 6 | Yes (14, 16–18, 24) | Yes (12, 13, 55) | 5 |
| NOS3 | 7 | No | Yes (34)* | 5 |
| GSTP1 | 11 | Yes (56, 57) | Yes (26, 27) | 2 |
| NOS1 | 12 | Yes (28, 29) | No | 16 |
| SERPINA3 | 14 | No | Yes (30, 31) | 6 |
| TGFB1 | 19 | Yes (58, 59) | Yes (20, 21) | 6 |
Definition of abbreviations: COPD, chronic obstructive pulmonary disease; SNP, single-nucleotide polymorphism.
See Table E1 in the online supplement for extended description of the SNPs, including rs numbers and minor allele frequencies in our cohort.
*
Suggested as a modifier gene for lung function in α1-antitrypsin deficiency.