Mutations identified in IPF and COPD cohorts of European descent
| Gene | Mutation | Amino acid change | IPF* (ED) (n=119) (n (MAF)) | COPD (n=178) (n (MAF)) | ESP (ED) (MAF), % | p Value (IPF vs COPD) | dbSNP number |
|---|---|---|---|---|---|---|---|
| SFTPA2 | c.532G>A | V178M | 1 (0.4%)† | 0 | 0.01 | 0.4 | |
| SFTPC | c.218T>C | I73T | 3 (1.3%)† | 0 | 0 | rs121917834 | |
| c.329T>G | L110R | 1 (0.4%) | 0 | 0 | |||
| c.334G>A | A112T | 1 (0.4%) | 0 | 0 | |||
| Collapsed frequency | 2.1% | 0.01 | |||||
| ABCA3 | c.875A>T | E292V | 4 (1.68%) | 3 (0.84%) | 0.45 | rs149989682 | |
| c.4420G>A | R1474W | 0 | 3 (0.84%) | 0.36 | rs146709251 | ||
| Collapsed frequency | 1.68% | 1.68% | 1.0 | ||||
| NKX2-1 | 0 | 0 | NA | ||||
| TERT | c.323G>C | ‡R108P | 1 (0.42%) | 0 | 0 | ||
| c.994C>T | ‡L332F | 1 (0.42%) | 0 | 0 | |||
| c.1775A>G | ‡H592R | 1 (0.42%)† | 0 | 0 | |||
| c.2110C>T | P704S | 2 (0.84%) | 0 | 0 | rs199422297 | ||
| Collapsed frequency | 2.1% | 0.01 | |||||
*All individuals with mutations were of European descent.
†One individual each with a family history.
‡Novel mutations.
ED, European descent; MAF, minor allele frequency.