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. Author manuscript; available in PMC: 2020 Jan 27.
Published in final edited form as: Annu Rev Med. 2019 Jan 27;70:211–224. doi: 10.1146/annurev-med-041317-102715

Table 1.

Genetic variants linked to IPF by GWAS and Next-Generation Sequencing Studies

Common Variants Rare variants
Locus Gene SNP OR Progression/Survival FIP IPF Reference
3q26 TERC rs6793295 1.3 1–2% 0.80% 44, 51,52, 71
4q22 FAM13A rs2609255 1.29 Protective 44
4q32 NAF1 ~1% 60a
5p15 TERT rs2736100 0.73 7–15% 4–5% 44, 51, 52, 70, 71
6q24 DSP rs2076295 1.43 44
7q22 Intergenic rs47274443 1.3 44
8p21 SFTPC 1–2% 6163
10q22 SFTPA2 <1% 64
10q24 OBFC1 rs11191865 0.8 44
11p15 MUC5B rs35705950 4.51 Protective 4449
MUC2 rs7934606 1.61 44
TOLLIP rs111521887 1.48 46
TOLLIP rs5743894 1.49 46
TOLLIP rs2743890 0.61 Protective 46
13q34 ATP11A rs1278769 0.79 44
14q12 TINF2 <1% 59
14q21 MDGA2 rs7144383 1.44 46
15q14–15 Intergenic rs2034650 0.77 44
15q25 AKAP13 rs62025270 1.27 45
16p13 ABCA3 <1% 65, 66
16p13 PARN 2–5% 1.2% – 2.7% 55, 60, 70, 71
17q21 MAPT rs1981997 0.71 44
17q21 SPPL2C rs17690703 0.7 46
19q13 DPP9 rs12610495 1.29 44
20q13 RTEL1 3–7% 2.3–3% 53, 54, 55, 70, 71
Xq28 DKC1 <1% 57

OR = odds ratio; FIP = familial interstitial pneumonia