Table 3

Mutations identified in IPF and COPD cohorts of European descent

GeneMutationAmino acid changeIPF* (ED) (n=119) (n (MAF))COPD (n=178) (n (MAF))ESP (ED) (MAF), %p Value (IPF vs COPD)dbSNP number
SFTPA2c.532G>AV178M1 (0.4%)†00.010.4
SFTPCc.218T>CI73T3 (1.3%)†00rs121917834
c.329T>GL110R1 (0.4%)00
c.334G>AA112T1 (0.4%)00
Collapsed frequency2.1%0.01
ABCA3c.875A>TE292V4 (1.68%)3 (0.84%)0.45rs149989682
c.4420G>AR1474W03 (0.84%)0.36rs146709251
Collapsed frequency1.68%1.68%1.0
TERTc.323G>C‡R108P1 (0.42%)00
c.994C>T‡L332F1 (0.42%)00
c.1775A>G‡H592R1 (0.42%)†00
c.2110C>TP704S2 (0.84%)00rs199422297
Collapsed frequency2.1%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.