title: The rs3807989 G/A polymorphism in CAV1 is associated with the risk of atrial fibrillation in Chinese Han populations.
abstract: BACKGROUND
  A recent meta-analysis of several genome-wide association studies identified six new susceptibility single nucleotide polymorphisms (SNPs) for atrial fibrillation (AF) in individuals of the European ancestry. We aimed to replicate the associations between these SNPs and the risk of AF in a Chinese Han population.
  
  
  METHODS
  We genotyped six SNPs (rs3903239 in PRRX1, rs3807989 in CAV1, rs10821415 in C9orf3, rs10824026 in SYNPO2L, rs1152591 in SYNE2, and rs7164883 in HCN4) using the middle-throughput iPLEX Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models.
  
  
  RESULTS
  We enrolled a total of 1,593 Chinese Han origin individuals in the study, including 597 AF patients and 996 non-AF controls. Among the six SNPs analyzed in the study, the SNP rs3807989 in CAV1 on chromosome 7q31 was found to be significantly associated with a decreased risk of AF (crude OR = 0.76, 95% CI: 0.64-0.89, P = 0.001; adjusted OR = 0.75, 95% CI: 0.63-0.89, P = 0.001). There were no significant associations between the other five loci and AF risk.
  
  
  CONCLUSIONS
  Our results confirmed that CAV1 rs3807989 may contribute to a decreased AF risk in Chinese Han populations. However, further validation studies with different ethnic backgrounds and biological function analyses are warranted to confirm our finding.
authors.affiliation: Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Yaowu
authors.initials: Y
authors.lastname: Liu
authors.forename: Bixian
authors.initials: B
authors.lastname: Ni
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.forename: Xin-Guang
authors.initials: XG
authors.lastname: Chen
authors.forename: Minglong
authors.initials: M
authors.lastname: Chen
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Fengxiang
authors.initials: F
authors.lastname: Zhang
mesh_terms: D001281:Atrial Fibrillation / Q000453:epidemiology* / Q000235:genetics*; D051242:Caveolin 1 / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012307:Risk Factors; D012680:Sensitivity and Specificity
chemical_list: C495540:CAV1 protein, human; D051242:Caveolin 1; D005819:Genetic Markers
keywords: 7q31; CAV1; atrial fibrillation (AF); rs3807989; single nucleotide polymorphism (SNP)