Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE A single-nucleotide polymorphism (rs35705950) in the mucin 5B (<i>MUC5B</i>) gene promoter is associated with pulmonary fibrosis and interstitial features on chest CT but may also have beneficial effects. 29440587

2018

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE To determine the effect of the MUC5B promoter polymorphism (rs35705950) on the CT imaging appearance of pulmonary fibrosis. 26836909

2016

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promoter variant can potentially be used to identify individuals with preclinical pulmonary fibrosis and is predictive of radiologic progression of preclinical pulmonary fibrosis; and 3) MUC5B may be involved in the pathogenesis of pulmonary fibrosis with MUC5B message and protein expressed in bronchiolo-alveolar epithelia of IPF and the characteristic IPF honeycomb cysts. 27630174

2016

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE After adjustment for covariates, for each copy of the minor rs35705950 allele, the odds of interstitial lung abnormalities were 2.8 times greater (95% confidence interval [CI], 2.0 to 3.9; P<0.001), and the odds of definite CT evidence of pulmonary fibrosis were 6.3 times greater (95% CI, 3.1 to 12.7; P<0.001). 23692170

2013

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE To determine whether the MUC5B promoter polymorphism (rs35705950), previously reported to be associated with the development of pulmonary fibrosis, is associated with survival in IPF. 23695349

2013

dbSNP: rs1059702
rs1059702
0.020 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122

2017

dbSNP: rs2004640
rs2004640
0.020 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122

2017

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122

2017

dbSNP: rs1059702
rs1059702
0.020 GeneticVariation BEFREE On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF- (p=0.025, OR=1.26, 95% CI 1.03 to 1.55). 23444193

2013

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). 23755762

2013

dbSNP: rs2004640
rs2004640
0.020 GeneticVariation BEFREE Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. 19116937

2009

dbSNP: rs1433372015
rs1433372015
0.010 GeneticVariation BEFREE STING N153S mice were highly vulnerable to infection and developed pulmonary fibrosis after infection. 30463976

2019

dbSNP: rs587777609
rs587777609
0.010 GeneticVariation BEFREE STING N153S mice were highly vulnerable to infection and developed pulmonary fibrosis after infection. 30463976

2019

dbSNP: rs121917737
rs121917737
0.010 GeneticVariation BEFREE G231V and F198S mutations in surfactant protein A2 (SP-A2) are associated with familial pulmonary fibrosis. 30293573

2018

dbSNP: rs121917738
rs121917738
0.010 GeneticVariation BEFREE G231V and F198S mutations in surfactant protein A2 (SP-A2) are associated with familial pulmonary fibrosis. 30293573

2018

dbSNP: rs1800470
rs1800470
0.010 GeneticVariation BEFREE In subgroup analyses by ethnicity or original disease, no statistically significant association between TGF-β1 rs1800470 polymorphisms and PF was demonstrated.This meta-analysis revealed that TGF-β1 rs1800470 polymorphism was not associated with susceptibility to PF development. 30212926

2018

dbSNP: rs2609255
rs2609255
0.010 GeneticVariation BEFREE Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671). 29621588

2018

dbSNP: rs2910164
rs2910164
0.010 GeneticVariation BEFREE Our results also suggested that miR-146a rs2910164 CC genotype may be predisposing factor for development lung fibrosis and more progressive form of SSc. 30308218

2018

dbSNP: rs6837671
rs6837671
0.010 GeneticVariation BEFREE Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671). 29621588

2018

dbSNP: rs1022113606
rs1022113606
0.010 GeneticVariation BEFREE We used R213G mice expressing a naturally occurring single-nucleotide polymorphism, rs1799895, within the heparin-binding domain of SOD3, which results in an amino acid substitution at position 213 to test the hypothesis that the redistribution of SOD3 into the extracellular fluids would impart protection against bleomycin-induced lung fibrosis and secondary pulmonary hypertension (PH). 27805412

2017

dbSNP: rs1799895
rs1799895
0.010 GeneticVariation BEFREE We used R213G mice expressing a naturally occurring single-nucleotide polymorphism, rs1799895, within the heparin-binding domain of SOD3, which results in an amino acid substitution at position 213 to test the hypothesis that the redistribution of SOD3 into the extracellular fluids would impart protection against bleomycin-induced lung fibrosis and secondary pulmonary hypertension (PH). 27805412

2017

dbSNP: rs2034650
rs2034650
IVD
0.010 GeneticVariation BEFREE The SNP in IVD (chromosome15, rs2034650) was significantly associated with pulmonary fibrosis in both the Mexican (OR = 0.40, P = .01) and Korean (OR = 0.13, P = .0008) cohorts. 25275363

2015

dbSNP: rs2241718
rs2241718
0.010 GeneticVariation BEFREE A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated with interstitial lung fibrosis (p=0.013), and the TGFB1 rs2241718 SNP with visceral pleural fibrosis (VPF) (p=0.044). 24142982

2014

dbSNP: rs35829419
rs35829419
0.010 GeneticVariation BEFREE Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fibrotic lung disease by associating the NLRP3 rs35829419 variant allele with increased risk of asbestos-related interstitial lung fibrosis, and the TGFB1 rs2241718 variant allele with decreased risk of asbestos-related VPF. 24142982

2014

dbSNP: rs10168266
rs10168266
0.010 GeneticVariation BEFREE The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). 23755762

2013