Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF

GND
1188737015
ORCID
0000-0001-7579-9767
LSF
60925
Affiliation
Center for Interstitial and Rare Lung Diseases, Pneumology Department, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany
Bonella, Francesco;
ORCID
0000-0002-4423-2482
Affiliation
SC Pneumologia - Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Campo, Ilaria;
ORCID
0000-0002-7826-3666
Affiliation
Clinical Chemistry Laboratory, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Zorzetto, Michele;
GND
1177176777
Affiliation
Center for Interstitial and Rare Lung Diseases, Pneumology Department, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany
Boerner, Eda;
ORCID
0000-0003-1119-3322
Affiliation
Department of Emergency and Critical Care Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
Ohshimo, Shinichiro;
GND
172414962
LSF
15958
Affiliation
Institute of Pathology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
Theegarten, Dirk;
GND
12205704X
ORCID
0000-0002-3546-1398
LSF
59284
Affiliation
Center for Interstitial and Rare Lung Diseases, Pneumology Department, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany
Taube, Christian;
GND
172658764
ORCID
0000-0003-2804-9511
LSF
14452
Affiliation
Center for Interstitial and Rare Lung Diseases, Pneumology Department, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany
Costabel, Ulrich

Background: Genetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was conducted to investigate the association of MUC5B and TOLLIP SNPs with disease outcome in IPF. 62 IPF patients and 50 healthy controls (HC) from our Institution were genotyped for SNPs within MUC5B (rs35705950) and TOLLIP (rs3750920 and rs5743890). Correlation of SNPs genotypes with survival, acute exacerbation (AE) or disease progression (defined as a decline of ≥ 5% in FVC and or ≥ 10% in DLco in one year) was investigated.

Results: The MUC5B rs35705950 minor allele (T) was more frequent in IPF subjects than in HC (35% vs 9% p  < 0.001). TOLLIP SNPs alleles and genotype distribution did not differ between IPF and HC and did not vary according to gender, age, BMI and lung functional impairment at baseline. The minor allele (C) in TOLLIP rs5743890 was associated with worse survival and with disease progression in all performed analyses. The MUC5B rs35705950 or the TOLLIP rs3750920 minor allele, were not associated with disease progression or AE.

Conclusion: We confirm that the minor allele of MUC5B rs35705950 is associated with IPF. The minor allele of TOLLIP rs5743890 appears to be a predictor of worse survival and more rapid disease progression, therefore being of potential utility to stratify IPF patients at baseline.

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