title: Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study.
abstract: OBJECTIVE
  Chronic obstructive pulmonary disease (COPD) is predicted to become the third most common cause of death and the fifth most common cause of disability in the world by 2020. Recently, variants in the hypoxia-inducible factor 1α (HIF1A), cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, and iron-responsive element-binding protein 2 gene (IREB2) genes were found to be associated with COPD. This study aims to identify whether the variations in these genes are related to COPD in the Hainan population of the People's Republic of China.
  
  
  METHODS
  We genotyped 12 single nucleotide polymorphisms in a case-control study with 200 COPD cases and 401 controls from Hainan, People's Republic of China. Odds ratios and 95% confidence intervals were estimated using the chi-squared (χ(2)) test, genetic model analysis, haplotype analysis, and stratification analysis.
  
  
  RESULTS
  In the genetic model analysis, we found that the genotype T/T of rs13180 of IREB2 decreased the COPD risk by 0.52-fold (P=0.025). But in the further stratification analysis, we failed to find the association between the selected single nucleotide polymorphisms with COPD risk in Han population. In addition, the haplotype analysis of HIF1A gene also was not found to be the possible haplotype associated with COPD risk.
  
  
  CONCLUSIONS
  Our results support that IREB2 rs13180 is associated with COPD in Hainan population. And this is the first time the HIF1A polymorphisms in COPD in a Chinese population has been reported, although we failed to find any significant result.
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Yipeng
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
authors.forename: Danlei
authors.initials: D
authors.lastname: Yang
authors.affiliation: School of Life Sciences, Northwest University, Xi'an, People's Republic of China.
authors.forename: Xiaojie
authors.initials: X
authors.lastname: Xun
authors.affiliation: Department of Respiration, People's Hospital of Qionghai, Qionghai, Hainan, People's Republic of China.
authors.forename: Zhifeng
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Pei
authors.initials: P
authors.lastname: Sun
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Dongchuan
authors.initials: D
authors.lastname: Xu
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Ping
authors.initials: P
authors.lastname: He
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Huan
authors.initials: H
authors.lastname: Niu
authors.affiliation: School of Life Sciences, Northwest University, Xi'an, People's Republic of China ; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, People's Republic of China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D035942:Iron Regulatory Protein 2 / Q000235:genetics*; D016015:Logistic Models; D008168:Lung / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D012307:Risk Factors
chemical_list: C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D035942:Iron Regulatory Protein 2
keywords: HIF1A; IREB2; single nucleotide polymorphism (SNP)