A Variant in the Promoter of MUC5B and Idiopathic Pulmonary Fibrosis

Y Zhang, I Noth, JGN Garcia… - New England Journal of …, 2011 - Mass Medical Soc
New England Journal of Medicine, 2011Mass Medical Soc
A Variant in the Promoter of MUC5B and Idiopathic Pulmonary Fibrosis Page 1 n engl j med
364;16 nejm.org april 21, 2011 1576 The new england journal of medicine correspondence A
Variant in the Promoter of MUC5B and Idiopathic Pulmonary Fibrosis To the Editor: Idiopathic
pulmonary fibrosis is a complex genetic disease; mutations in surfactant protein C, telomerase,
and surfactant protein A2 have been identified in familial cases of pulmonary fibrosis.We
confirm a recent association with rs35705950 in the putative promoter of MUC5B and sporadic …
In this study, a single-nucleotide polymorphism in the mucus-forming gene MUC5B was strongly associated with the presence of idiopathic pulmonary fibrosis (IPF). These results replicate the findings of other investigators, also published in this issue.
The New England Journal Of Medicine