title: EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population.
abstract: OBJECTIVE
  Chronic obstructive pulmonary disease (COPD) is a major and an increasingly prevalent health problem worldwide. It has been reported that genetic variation may play a role in the development and severity of COPD. The purpose of this study was to investigate whether single nucleotide polymorphisms in multiple genetic variants were associated with COPD in a Chinese population from Hainan province.
  
  
  METHODS
  In this case-control study, including 200 COPD patients and 401 controls, we genotyped 14 tag single nucleotide polymorphisms and evaluated their association with COPD using the χ (2) test and genetic model analysis.
  
  
  RESULTS
  The polymorphism, rs10007052, in the RNF150 gene was significantly associated with COPD risk at a 5% level (odds ratio =1.43, 95% confidence interval, 1.06-1.95, P=0.020). In the log-additive model, the minor allele (C) of rs10007052 in the RNF150 gene (P=0.026) and the minor allele (C) of rs3733829 in the EGLN2 gene (P=0.037) were associated with COPD risk after adjustment for age, sex, and smoking status. Further haplotype analysis revealed that the "CT" haplotype composed of the mutant allele (C) of rs7937, rs3733829 in the EGLN2 gene, was associated with increased COPD risk (odds ratio =1.55; 95% confidence interval, 1.05-2.31; P=0.029).
  
  
  CONCLUSIONS
  Our findings indicated that rs10007052 in the RNF150 and rs3733829 in the EGLN2 gene were significantly associated with the risk of COPD in Chinese populations of Hainan province. These data may provide novel insights into the pathogenesis of COPD, although further studies with larger numbers of participants worldwide are needed for validation of our conclusions.
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 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.
authors.forename: Hua
authors.initials: H
authors.lastname: Yang
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 Respiration Emergency, The Third People's Hospital of Haikou, Haikou, Hainan, People's Republic of China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Mengling
authors.initials: M
authors.lastname: Duan
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 Respiration Emergency, The Third People's Hospital of Haikou, Haikou, Hainan, People's Republic of China.
authors.forename: Junxue
authors.initials: J
authors.lastname: Xu
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; 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; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; 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: D008565:Membrane Proteins; C000601212:RNF150 protein, human; C447780:EGLN2 protein, human; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases
keywords: COPD; case-control studies; tag single-nucleotide polymorphism