Association of tumor necrosis factor-α-863C/A gene polymorphism with chronic obstructive pulmonary disease

Yung Che Chen, Shih Feng Liu, Chien Hung Chin, Chao Chien Wu, Chung Jen Chen, Hsueh Wen Chang, Yi Hsi Wang, Yu Hsiu Chung, Tung Ying Chao, Meng Chih Lin*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

22 Scopus citations

Abstract

The aim of this study was to investigate genetic effects on the pathogenesis of chronic obstructive pulmonary disease (COPD). The study was conducted as a prospective case-control study in a medical center in southern Taiwan. The patient group consisted of 145 male patients with smoking-related COPD and a control group of 139 resistant smokers from July 2004 to September 2009. We compared allele and genotype frequencies of three tag single nucleotide polymorphisms (SNP) of the TNF-α gene promoter region at -308, -863, and -1031 in all subjects. We also analyzed the influence of each genetic variant on pulmonary function parameters, body mass index (BMI), serum TNF-α levels, and outcomes among heavy smokers with or without COPD. COPD patients had a significantly lower A allele frequency (9.7 vs. 15.1%, OR = 0.6, p = 0.048, false discovery rate q = 0.144) and a significantly lower A carrier genotype frequency (19.3 vs. 30.2%, OR = 0.52, p = 0.042, q = 0.135) than resistant smokers. The -863 CA genotype was associated with a better FEV1/FVC ratio (79 vs. 71.5%, p = 0.034), and higher BMI (24.9 vs. 23.6 kg/m2, p = 0.048). In addition, COPD patients with the -1031 C carrier genotype had higher serum TNF-α levels (20.9 vs. 16.2 pg/ml, p = 0.01). BMI (hazard ratio = 0.84, 95% CI = 0.74-0.96, p = 0.008) was the only independent predictor for mortality. The TNF-α -863 A allele may confer a degree of resistance to the susceptibility to and muscle wasting of COPD among heavy smokers.

Original languageEnglish
Pages (from-to)339-347
Number of pages9
JournalLung
Volume188
Issue number4
DOIs
StatePublished - 08 2010

Keywords

  • COPD
  • Genetic polymorphism
  • Pulmonary function parameter
  • TNF-α

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