Table 1

Overview of main genetic associations with sporadic and familial idiopathic pulmonary fibrosis

LocusGeneVariantAssociationReference
2q14.2IL1RNrs408392
rs419598
rs2637988
Sporadic IPF69, 70
3q26.2TERCrs6793295
98 G>A
37 A>G
Sporadic fibrotic idiopathic interstitial pneumonia*
Familial idiopathic interstitial pneumonia*
14, 41, 67
4q13.3IL8rs4073
rs2227307
Sporadic IPF71
4q22.1FAM13Ars2609255Fibrotic idiopathic interstitial pneumonia*67
4q31.1ELMOD2UnknownFamilial IPF72
4q35.1TLR3rs3775291Sporadic IPF73
5p15.33TERTrs2736100
Leu55Gln
Thr1110Met
Fibrotic idiopathic interstitial pneumonia*
Sporadic and familial IPF
14, 41, 67, 74
6p21.2CDKN1Ars2395655
rs733590
Sporadic IPF75
6p21.31DRB1DRB1*1501
DQB1*0602
Sporadic IPF and fibrotic idiopathic interstitial pneumonia*68, 76
6q24.3DSPrs2076295Fibrotic idiopathic interstitial pneumonia*67
8p21.3SFTPCSeveral loss-of-function mutationsSporadic and familial interstitial pneumonia32, 33, 77–79
10q22.3SFTPA2G231V and F198S loss-of-function mutationsFamilial pulmonary fibrosis37
11p15.5MUC5Brs35705950Familial idiopathic interstitial pneumonia* and IPF55, 57–60
11p15.5TOLLIPrs5743890
rs5743894
rs111521887
Sporadic IPF57
14q12TINF2Several loss-of-function mutationsFamilial interstitial pneumonia47, 48, 80
16p13.3ABCA3Several loss-of-function mutationsFamilial pulmonary fibrosis81, 82
16p13.12PARNSeveral loss-of-function mutationsFamilial pulmonary fibrosis50
17p13.1TP53rs12951053
rs12602273
Improved survival in patients with IPF75
17q21.31SPPL2Crs17690703Sporadic IPF57
19q13.1TGF-β1rs1800470Sporadic IPF83, 84
20q13.33RTEL1Several loss-of-function mutationsFamilial interstitial pneumonia49, 50
Xq28DKC1Several loss-of-function mutationsFamilial interstitial pneumonia46, 85
  • *Most patients with fibrotic idiopathic interstitial pneumonia had IPF.

  • IPF, idiopathic pulmonary fibrosis.