title: Association between two key SNPs on chromosome 12p13 and ischemic stroke in Chinese Han population.
abstract: OBJECTIVE
  Genome-wide single nucleotide polymorphism (SNP) association studies recently identified two SNPs (rs11833579 and rs12425791) on chromosome 12p13 that are associated with ischemic stroke (IS) in Caucasian or Black persons from America and the Netherlands. Our aim was to determine whether these SNPs were associated with IS in Chinese Han population.
  
  
  METHODS
  We used a case-control study involving 648 IS patients and 648 age-matched, sex-matched, and ethnicity-matched non-IS controls from two ethnic populations and determined the genotypes of two polymorphisms by TaqMan SNP genotyping assays to assess any links with IS.
  
  
  RESULTS
  Significant allelic association was identified between rs11833579 and IS in the Han population (odds ratio=1.27, 95% confidence interval=1.08-1.49). One risk haplotype (A-G; odds ratio=1.52, 95% confidence interval=1.21-1.92) was identified in the Han population. Genotypic association analysis demonstrated that rs11833579 confers susceptibility to IS only in a recessive model (P=0.004) rather in additive model. However, the association between rs12425791 and IS was insignificant in Chinese Han population.
  
  
  CONCLUSIONS
  The A allele of SNP rs11833579 on chromosome 12p13 may play a role in mediating susceptibility to IS in the Han Chinese population in a recessive model. The A-G haplotype is also significantly associated with higher IS risk in the Han Chinese population. However, larger populations are warranted to validate our findings.
authors.affiliation: School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Yeqing
authors.initials: Y
authors.lastname: Tong
authors.forename: Yanwei
authors.initials: Y
authors.lastname: Zhang
authors.forename: Renli
authors.initials: R
authors.lastname: Zhang
authors.forename: Yijie
authors.initials: Y
authors.lastname: Geng
authors.forename: Liangqiang
authors.initials: L
authors.lastname: Lin
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wang
authors.forename: Jianping
authors.initials: J
authors.lastname: Liu
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Li
authors.forename: Zhixin
authors.initials: Z
authors.lastname: Cao
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Yun
authors.initials: Y
authors.lastname: Chai
authors.forename: Hong
authors.initials: H
authors.lastname: Fan
authors.forename: Frank B
authors.initials: FB
authors.lastname: Hu
authors.forename: Zuxun
authors.initials: Z
authors.lastname: Lu
authors.forename: Jinquan
authors.initials: J
authors.lastname: Cheng
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D002545:Brain Ischemia / Q000150:complications*; D016022:Case-Control Studies; D002681:China; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020521:Stroke / Q000209:etiology / Q000235:genetics*