Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case–control study

Abstract

BackgroundChronic obstructive pulmonary disease (COPD) is influenced by both environmental and genetic factors. Few gene studies of the Chinese population have focused on COPD. We investigated candidate genes associated with susceptibility to COPD in the Chinese Han population.MethodsA total of 331 COPD patients and 213 control subjects were recruited for this study. Nighty-seven single-nucleotide polymorphisms (SNPs) of 46 genes were selected for genotyping. Genotypes were determined using multiplex polymerase chain reaction (PCR).ResultsSignificant differences between patients and healthy controls were observed in the allele frequencies of seven SNPs: rs1205 C, rs2353397 C, rs20541 T, rs2070600 G, rs10947233 G, rs1800629 G, and rs2241712 A. After Bonferroni correction, rs2353397 C was most strongly associated with susceptibility to COPD. Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).ConclusionOur study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.

Hedgehog signaling regulates the expression levels of inflammatory mediators in cigarette‑induced airway inflammation

“…In addition, a significantly increased cell death was detected in lungs from HIP+/-mice. Our previous study also identified some single nucleotide polymorphisms on a HIP gene associated with the susceptibility of COPD in the Chinese Han population (18).…”

Association of tumor necrosis factor α −308G/A and interleukin-6 −174G/C gene polymorphism with pneumonia-induced sepsis

“…Although there is evidence suggesting a relationship between TNF − 308, IL-6 rs1800795, and sepsis risk, other researchers could not find a consistent association between the SNPs and the risks of sepsis and outcomes [14]. Moreover, many previous studies reported a higher prevalence of IL-6 rs1800795 and rs1800629 polymorphisms and a connection with a variety of diseases in the Chinese Han population [15][16][17][18].…”

Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population

“…20 Moreover, rs2070600 of AGER was also identified to be associated with COPD (331 COPD and 231 controls) by Yi Guo et al in Shanghai, China. 21 In this study, when the analysis was conducted in all subjects, no associations were found between a single SNP at each locus and COPD in either unadjusted analysis or the analysis adjusting for age, gender, BMI and pack-years. When the analysis was conducted in never-smokers, however, rs3995090 in HTR4 was associated with COPD, and individuals with genotype AA showed a decreased risk of susceptibility to COPD.…”

“…Moreover, rs2070600 of AGER was also identified to be associated with COPD (331 COPD and 231 controls) by Yi Guo et al . in Shanghai, China …”