Mucin 5B Promoter Polymorphism Is Associated With Susceptibility to Interstitial Lung Diseases in Chinese Males

PLoS One. 2014 Aug 14;9(8):e104919. doi: 10.1371/journal.pone.0104919. eCollection 2014.

Abstract

The variation of G>T in the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) in Caucasians, but no information is available regarding this variant in the Chinese population. We recruited 405 patients with interstitial lung diseases (ILD), including 165 IPF patients and 2043 healthy controls, for genotyping the MUC5B gene in the Chinese population. One hundred three patients with pneumonia and 360 patients with autoimmune diseases (ADs) were recruited as disease controls. Our results indicated that the prevalence of the minor allele (T) of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. The frequencies of the T allele were 3.33% and 2.22% in IPF and ILD patients, respectively, and these values were significantly higher than those of healthy controls (P = 0.001, OR = 4.332 for IPF, and P = 0.002, OR = 2.855 for ILD). A stratified analysis showed that this variant in MUC5B associated with the risk for ILD mainly in older male Chinese subjects. No difference was observed between patients with pneumonia, AD patients, and healthy controls.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • China
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Humans
  • Lung Diseases, Interstitial / genetics*
  • Male
  • Mucin-5B / genetics*
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*

Substances

  • MUC5B protein, human
  • Mucin-5B

Grant support

This work was partly supported by the National Natural Science Foundation of China (grant number: 81270152,81070273) and the Open Foundation of the State Key Laboratory of Pharmaceutical Biotechnology (grant number: KF-GN-201201). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.