title: Association of FAM13A polymorphisms with COPD and COPD-related phenotypes in Han Chinese.
abstract: OBJECTIVE
  Genome-wide association studies (GWAS) and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and FAM13A polymorphisms in non-Asian populations. The aim of this study was to investigate whether FAM13A polymorphisms would be associated with COPD susceptibility and COPD-related phenotypes in a Chinese Han population.
  
  
  METHODS
  Seven single nucleotide polymorphisms (SNPs) (rs7671167, rs10007590, rs2869966, rs2869967, rs2045517, rs1903003, rs6830970) in FAM13A gene were genotyped in a case-control study (680 COPD patients and 687 controls). Allele frequencies and genotype distributions were compared between patients and controls. To estimate the strength of association, odds ratios (OR) (with 95% CI) were calculated and potential confounding variables were tested by using logistic regression analysis.
  
  
  RESULTS
  Statistical analysis revealed that SNP rs7671167 was associated with COPD in former smokers with adjusted P-value of 0.026. Five SNPs (rs7671167, rs2869966, rs2869967, rs2045517, and rs6830970) were associated with FEV1/FVC ratio in the entire cohort and rs6830970 was associated with FEV1/FVC ratio in COPD cases (P range 0.003-0.034). Borderline associations with FEV1/FVC ratio were found for rs2869966, rs2869967 and rs2045517 among cases (P=0.05). Six SNPs (rs7671167, rs2869966, rs2869967, rs2045517, rs1903003, rs6830970) showed strong linkage disequilibrium (r(2) ≥ 0.9). Four major haplotypes were observed but showed no significant difference between case and control groups (P=0.2356, 0.1273, 0.6266 and 0.3006 respectively).
  
  
  CONCLUSIONS
  The current study suggests that the FAM13A locus might be a contributor to COPD susceptibility in Chinese Han population.
authors.affiliation: Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: wangbo31hx@163.com.
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.forename: Binmiao
authors.initials: B
authors.lastname: Liang
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Jun
authors.initials: J
authors.lastname: Xiao
authors.forename: Chunlan
authors.initials: C
authors.lastname: Ma
authors.forename: Sicheng
authors.initials: S
authors.lastname: Xu
authors.forename: Jianbo
authors.initials: J
authors.lastname: Lei
authors.forename: Xuejing
authors.initials: X
authors.lastname: Xu
authors.forename: Zongbing
authors.initials: Z
authors.lastname: Liao
authors.forename: Hong
authors.initials: H
authors.lastname: Liu
authors.forename: Xuemei
authors.initials: X
authors.lastname: Ou
authors.forename: Yulin
authors.initials: Y
authors.lastname: Feng
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D003710:Demography; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012129:Respiratory Function Tests; D012907:Smoking / Q000235:genetics / Q000503:physiopathology
chemical_list: C570078:FAM13A protein, human; D020690:GTPase-Activating Proteins
keywords: A case–control study; Association; COPD-related phenotypes; Chronic obstructive pulmonary disease; FAM13A