The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 981 French patients with SSc (346 ILD), 598 Italian patients with SSc (207 ILD), 1383 French controls and 494 Italian controls. A meta-analysis was performed including all American data available. The T risk allele was present in 41.9% of the IPF patients, 10.8% of the controls (P = 2 × 10(-44)), OR 6.3 [4.6-8.7] for heterozygous patients and OR 21.7 [10.4-45.3] for homozygous patients. Prevalence of the T allele was not modified according to age, gender, smoking in IPF patients. However, none of the black patients with IPF presented the T allele. The prevalence of the T risk allele was similar between French (10%) and Italian (12%) cohorts of SSc whatever the presence of an ILD (11.1% and 13.5%, respectively). Meta-analysis confirmed the similarity between French, Italian and American cohorts of IPF or SSc-ILD. This study confirms 1) an association between the T allele risk and IPF, 2) an absence of association with SSc-ILD, suggesting different pathophysiology.
Service de Pneumologie A, APHP, Hopital Bichat, Paris, France.
Raphael
R
Borie
Bruno
B
Crestani
Philippe
P
Dieude
Hilario
H
Nunes
Yannick
Y
Allanore
Caroline
C
Kannengiesser
Paolo
P
Airo
Marco
M
Matucci-Cerinic
Benoit
B
Wallaert
Dominique
D
Israel-Biet
Jacques
J
Cadranel
Vincent
V
Cottin
Steven
S
Gazal
Anna L
AL
Peljto
John
J
Varga
David A
DA
Schwartz
Dominique
D
Valeyre
Bernard
B
Grandchamp
D016022:Case-Control Studies; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000235:genetics*; D055257:Mucin-5B / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012595:Scleroderma, Systemic / Q000235:genetics*; D044465:White People
C524578:MUC5B protein, human; D055257:Mucin-5B