Authors
Carmel J Stock, Hiroe Sato, Carmen Fonseca, Winston AS Banya, Philip L Molyneaux, Huzaifa Adamali, Anne-Marie Russell, Christopher P Denton, David J Abraham, David M Hansell, Andrew G Nicholson, Toby M Maher, Athol U Wells, Gisela E Lindahl, Elisabetta A Renzoni
Publication date
2013/5/1
Journal
Thorax
Volume
68
Issue
5
Pages
436-441
Publisher
BMJ Publishing Group Ltd
Description
Background
A polymorphism (rs35705950) 3 kb upstream of MUC5B, the gene encoding Mucin 5 subtype B, has been shown to be associated with familial and sporadic idiopathic pulmonary fibrosis (IPF). We set out to verify whether this variant is also a risk factor for fibrotic lung disease in other settings and to confirm the published findings in a UK Caucasian IPF population.
Methods
Caucasian UK healthy controls (n=416) and patients with IPF (n=110), sarcoidosis (n=180) and systemic sclerosis (SSc) (n=440) were genotyped to test for association. The SSc and sarcoidosis cohorts were subdivided according to the presence or absence of fibrotic lung disease. To assess correlation with disease progression, time to decline in forced vital capacity and/or lung carbon monoxide transfer factor was used in the IPF and SSc groups, while a persistent decline at 4 years since baseline was evaluated in patients with …
Scholar articles
CJ Stock, H Sato, C Fonseca, WAS Banya… - Thorax, 2013