title: Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population.
abstract: BACKGROUND
  It is known that the contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A (FAM13A), micro-RNA 2054 (MIR2054), SET domain containing protein 7 (SETD7), ring finger protein 150 (RNF150), hedgehog interacting protein (HHIP), and vascular endothelial growth factor A (VEGFA). Our objective was to explore the association between these gene polymorphism and COPD in members of Chinese Li minority population.
  
  
  METHODS
  The Chinese Li population case-control study was conducted to assess genetic associations with COPD risk. Seven single nucleotide polymorphisms (SNPs) located on chromosome 4, including FAM13A, MIR2054, SETD7, RNF150, and HHIP, and nine SNPs in the VEGFA gene were genotyped among 234 cases and 240 controls using Sequenom Mass-ARRAY(®) platform. Linkage disequilibrium (LD) analysis was performed using Haploview software and the associations of the SNP frequencies with COPD were analyzed using chi-square (χ(2)) tests, genetic models analysis, and haplotype analysis.
  
  
  RESULTS
  By χ(2) we found the minor allele "G" of rs17050782 was with increased COPD risk in allele model. In genetic models, we found the minor allele of rs7671167 (P=0.028 by dominant model) and rs17050782 (P=0.008 by recessive model) was associated with the increased risk of COPD disease. Likewise, an increased risk of developing COPD was associated with the "GGCGC" haplotype of VEGFA (odds ratio =1.48, 95% confidence interval =1.02-2.12, P=0.037).
  
  
  CONCLUSIONS
  Our results were the first time to reveal that SNPs from FAM13A (rs7671167), SETD7 (rs17050782), and a haplotype of VEGFA ("GGCGC") are potential susceptibility loci associated with increased COPD risk in Chinese Li minority population.
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, Key Laboratory of Pulmonary Diseases of Health Ministry, Tongji Medical College, Wuhan, Hainan, People's Republic of China ; Department of Science and Technology, Huazhong University, Wuhan, Hainan, People's Republic of China.
authors.forename: Danlei
authors.initials: D
authors.lastname: Yang
authors.affiliation: School of Life Sciences, Northwest University, Xi'an, Hainan, People's Republic of China.
authors.forename: Long
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Department of Respiration Emergency, The Third People's Hospital of Haikou, Haikou, Hainan, People's Republic of China.
authors.forename: Junxu
authors.initials: J
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: 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: 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: Jinjian
authors.initials: J
authors.lastname: Yao
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
authors.forename: Jiannan
authors.initials: J
authors.lastname: Chen
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: 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: School of Life Sciences, Northwest University, Xi'an, Hainan, People's Republic of China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008168:Lung / Q000503:physiopathology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D018570:Risk Assessment; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects / Q000208:ethnology; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C570078:FAM13A protein, human; D020690:GTPase-Activating Proteins; C117596:HHIP protein, human; D008562:Membrane Glycoproteins; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D011495:Histone-Lysine N-Methyltransferase; C540312:SETD7 protein, human
keywords: Chinese Li minority population; case–control study; chronic obstructive pulmonary disease; single nucleotide polymorphism