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Association Between the MUC5B Promoter Polymorphism rs35705950 and Idiopathic Pulmonary Fibrosis: A Meta-analysis and

Qing-Qing Zhu1, Xin-Lin Zhang, Si-Min Zhang

  • 1From the Department of Respiratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China (Q-QZ, YS); Department of Cardiology, Affiliated Drum Tower Hospital, Nanjing University School of Medicine, Nanjing, China (X-LZ, BX); Department of Epidemiology and Biostatistics, and School of Public Health, Nanjing Medical University, Nanjing 211166, China (S-MZ, S-WT); and Centre for Translational Medicine, Nanjing University Medical School, Nanjing, China (H-YM, LY).

Medicine
|October 30, 2015
PubMed

Insights

The MUC5B rs35705950 polymorphism is strongly linked to idiopathic pulmonary fibrosis (IPF) risk. This association is particularly pronounced in Caucasians, with a milder but significant effect observed in Asian populations.

Area of Science:

  • Genetics
  • Pulmonology
  • Epidemiology

Background:

  • Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with a poor prognosis.
  • Previous studies suggest a link between the MUC5B promoter polymorphism rs35705950 and IPF, but findings are inconsistent.
  • The precise strength and ethnic variations of this association require further investigation.

Purpose of the Study:

  • To investigate the association between the MUC5B promoter polymorphism rs35705950 and IPF risk across different ethnic groups.
  • To clarify the strength of this genetic association using meta-analysis and trial sequential analysis.

Main Methods:

  • A comprehensive literature search was conducted in PubMed, EMBASE, Web of Science, and CENTRAL up to April 15, 2015.
  • Included studies involved allelic and phenotypic comparisons in Caucasian and Asian populations.
  • Meta-analysis and trial sequential analysis were employed to assess the association.

Main Results:

  • Nine studies with 2733 IPF patients and 5044 controls were analyzed.
  • The minor T allele of rs35705950 was significantly associated with increased IPF risk (OR 4.85).
  • A dose-dependent relationship was observed for TG and TT genotypes, with stronger associations in Caucasians than Asians.

Conclusions:

  • The MUC5B promoter rs35705950 polymorphism shows a strong association with IPF risk.
  • The T allele confers increased susceptibility to IPF, particularly in Caucasian populations.
  • The genetic association is significant but less pronounced in Asian populations.

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