There may be an association between the MUC5B rs35705950 T allele and the risk of developing idiopathic pulmonary fibrosis (IPF), according to a new study published in the journal Chest and presented at the Chest 2021 Annual Meeting.

Genetic screening could play a key role in a population whose members have a family history of IPF. Recent research suggests that IPF has a strong underlying genetic component and the risk factors are not only environmental or occupational.

In order to identify genetic polymorphisms associated with the risk of developing IPF, a team of researchers conducted a systemic review and meta-analysis of the literature. They identified 23 case-control studies on risk factors of IPF that were published between March 2000 and March 2021, in which an IPF diagnosis was made based on the American Thoracic Society or the European Respiratory Society guidelines.

Continue Reading

Read more about IPF etiology

These studies included information about 2945 IPF patients and 18,500 people without the disease. Of these 23 studies, 7 were eligible for meta-analysis. The most frequently reported polymorphisms among patients with IPF in these studies were MUC5B rs35705950 and IL-4 rs2243250

The allele contrast method (T versus G) and the TT + TG versus GG dominant model for MUC5B rs35705950 revealed that there was a statistically significant association of T allele with the risk of IPF. None of the models with IL-4 rs2243250 revealed any association with the risk of IPF.

“Hence, we recommend further studies in different populations with varying contexts to further explore the role of MUC5B and other genes in the pathogenesis of IPF,” the researchers wrote. They concluded that there is an association between the MUC5B rs3.

The MUC5B gene encodes a member of the mucin family of proteins, which is the major gel-forming mucin in mucus. The mucin 5B protein contributes to the lubricating and viscoelastic properties of normal lung mucus. The MUC5B gene has been shown to be upregulated in some human diseases including chronic obstructive pulmonary disease (COPD) and may be involved in its pathogenesis.


Hassan M, Shoukat A, Zubairi A, et al. A systematic review and meta-analysis of genetic polymorphisms associated with the risk of idiopathic pulmonary fibrosis. Chest. 2021;160:4(A1262). doi:10.1016/j.chest.2021.07.1153