title: Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population.
abstract: OBJECTIVE
  Recent genome-wide association studies have shown associations between variants at five loci (TNS1, GSTCD, HTR4, AGER and THSD4) and chronic obstructive pulmonary disease (COPD) or lung function. However, their association with COPD has not been proven in Chinese Han population, nor have COPD-related phenotypes been studied. The objective of this study was to look for associations between five single nucleotide polymorphisms (SNP) in these novel candidate genes and COPD susceptibility or lung function in a Chinese Han population.
  
  
  METHODS
  Allele and genotype data on 680 COPD patients and 687 healthy controls for sentinel SNP in these five loci were investigated. Allele frequencies and genotype distributions were compared between cases and controls, and odds ratios were calculated. Potential relationships between these SNP and COPD-related lung function were assessed.
  
  
  RESULTS
  No significant associations were found between any of the SNP and COPD in cases and controls. The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P = 0.022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1 s (FEV1 %) predicted (β = -0.066, adjusted P = 0.016) and FEV1 /forced vital capacity (β = -0.071, adjusted P = 0.009) in all subjects.
  
  
  CONCLUSIONS
  The variant at HTR4 was associated with COPD in never-smokers, and the SNP in AGER was associated with pulmonary function in a Chinese Han population.
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Haixia
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Binmiao
authors.initials: B
authors.lastname: Liang
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Xiao
authors.affiliation: Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Chunlan
authors.initials: C
authors.lastname: Ma
authors.affiliation: Department of Respiratory Medicine, The Second People's Hospital of Hongya County, Meishan, Sichuan Province, China.
authors.forename: Dengxue
authors.initials: D
authors.lastname: Li
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Yulin
authors.initials: Y
authors.lastname: Feng
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Xuemei
authors.initials: X
authors.lastname: Ou
mesh_terms: D044466:Asian People; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D013147:Spirometry / Q000379:methods*
keywords: AGER; HTR4; chronic obstructive pulmonary disease; pulmonary function; single-nucleotide polymorphism