Open Access Research article

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

Yi Guo1, Yi Gong2, Chunming Pan3, Yanrong Qian1, Guochao Shi1, Qijian Cheng1, Qingyun Li1, Lei Ren4, Qiuling Weng4, Yi Chen5, Ting Cheng1, Liang Fan1, Zhihong Jiang1 and Huanying Wan1*

Author Affiliations

1 Department of Pulmonary Medicine, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, 200025, Shanghai, China

2 Department of Respiratory Medicine, Hua Shan Hospital, Fu Dan University, 200040, Shanghai, China

3 State Key Laboratory of Medical Genomics, Molecular Medicine Center, Shanghai Rui Jin Hospital, 200025, Shanghai, China

4 Department of Respiratory Medicine, Shanghai Jing-an geriatric Hospital, 200042, Shanghai, China

5 Department of Respiratory Medicine, Shanghai Gong Hui Hospital, 200041, Shanghai, China

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BMC Medical Genomics 2012, 5:64  doi:10.1186/1755-8794-5-64

Published: 26 December 2012



Chronic 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.


A 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).


Significant 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).


Our study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.

COPD; Single-nucleotide polymorphisms; Genotype; Allele frequencies