Incidence of MUC5B minor allele in end-stage lung disease and implications for transplantation

MUC5B polymorphism has been associated with an increased risk of IPF. Compared to the 9% found in controls, the minor allele was found in 34% of patients with familial IPF, in 38% of sporadic IPF. Recently, MUC5B has also been associated with chronic hypersensitivity pneumonitis (24.4-and 32.2 vs. 10.7%) and rheumatoid arthritis with interstitial lung disease (32.6 vs 10.9%).We retrospectively assessed MUC5B SNP (rs35705950) in all patients that underwent lung transplant between 1991 and 2015 in our hospital (n=746). We associated the incidence of the MUC5B minor allele with the underlying lung disease and post transplant survival.In 145 (19.4%) patients the minor allele was found. The incidence of the minor allele was highest in pulmonary fibrosis (44/133; 33%), although there was a remarkable incidence in the emphysema patients as well (68/383, 18%) compared to cystic fibrosis (19/127; 15%) and pulmonary hypertension (9/66; 14%) and what is described in literature (9-11%). Stratifying the fibrosis group according to the underlying disease showed a similar incidence of the MUC5B minor allele in IPF (22/56, 39%), chronic hypersensitivity pneumonitis (9/28; 32%), connective tissue disease associated ILD (8/30; 27%) and other causes (6/19, 31%). There was no difference in the post-transplant incidence of chronic lung allograft dysfunction or graft survival according to the MUC5B allele in the total population (p=0.53, p=0.61) or in PF only (p=0.57, p=0.72).We observed modest in...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Idiopathic interstitial pneumonias Source Type: research