School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Pharmacogenet Genomics. 2011 Sep;21(9):572-8. doi: 10.1097/FPC.0b013e32834911d0.
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.
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.
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.
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.
全基因组单核苷酸多态性（SNP）关联研究最近在来自美国和荷兰的白人和黑人中发现了位于 12 号染色体 p13 上的两个 SNP（rs11833579 和 rs12425791）与缺血性脑卒中（IS）相关。我们的目的是确定这些 SNP 是否与中国汉族人群中的 IS 相关。
我们使用了一项病例对照研究，纳入了来自两个民族群体的 648 例 IS 患者和 648 例年龄、性别和种族匹配的非 IS 对照者，通过 TaqMan SNP 基因分型检测确定了两个多态性的基因型，以评估与 IS 的任何关联。
在汉族人群中，rs11833579 与 IS 存在显著的等位基因关联（比值比=1.27，95%置信区间=1.08-1.49）。在汉族人群中发现了一个风险单倍型（A-G；比值比=1.52，95%置信区间=1.21-1.92）。基因型关联分析表明，rs11833579 仅在隐性模型中与 IS 易感性相关（P=0.004），而不是在加性模型中。然而，rs12425791 与 IS 之间的关联在汉族人群中并不显著。
染色体 12p13 上 SNP rs11833579 的 A 等位基因可能在隐性模型中在介导汉族人群 IS 易感性方面发挥作用。A-G 单倍型也与汉族人群更高的 IS 风险显著相关。然而，需要更大的人群来验证我们的发现。
