title: Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.
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).
  
  
  CONCLUSIONS
  Our study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.
authors.affiliation: Department of Pulmonary Medicine, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, 200025, Shanghai, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.forename: Yi
authors.initials: Y
authors.lastname: Gong
authors.forename: Chunming
authors.initials: C
authors.lastname: Pan
authors.forename: Yanrong
authors.initials: Y
authors.lastname: Qian
authors.forename: Guochao
authors.initials: G
authors.lastname: Shi
authors.forename: Qijian
authors.initials: Q
authors.lastname: Cheng
authors.forename: Qingyun
authors.initials: Q
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Ren
authors.forename: Qiuling
authors.initials: Q
authors.lastname: Weng
authors.forename: Yi
authors.initials: Y
authors.lastname: Chen
authors.forename: Ting
authors.initials: T
authors.lastname: Cheng
authors.forename: Liang
authors.initials: L
authors.lastname: Fan
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Jiang
authors.forename: Huanying
authors.initials: H
authors.lastname: Wan
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics
chemical_list: D053773:Transforming Growth Factor beta1