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

Author(s): Guo Yi | Gong Yi | Pan Chunming | Qian Yanrong | Shi Guochao | Cheng Qijian | Li Qingyun | Ren Lei | Weng Qiuling | Chen Yi | Cheng Ting | Fan Liang | Jiang Zhihong | Wan Huanying

Journal: BMC Medical Genomics
ISSN 1755-8794

Volume: 5;
Issue: 1;
Start page: 64;
Date: 2012;
Original page

Keywords: COPD | Single-nucleotide polymorphisms | Genotype | Allele frequencies

Abstract Background 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. Methods 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). Results 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). Conclusion Our study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.
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