Matarin Mar, Brown W Mark, Singleton Andrew, Hardy John A, Meschia James F
Stroke. 2008 May;39(5):1586-9. doi: 10.1161/STROKEAHA.107.502963. Epub 2008 Mar 13.
Recently independent studies reported an association between coronary heart disease and single-nucleotide polymorphisms (SNPs) located at chromosome 9p21, near CDKN2A and CDKN2B genes. Given that stroke is a common complication after myocardial infarction, we investigated if the same SNPs were associated with ischemic stroke in our population.
We recently initiated a whole genome analysis of ischemic stroke and published the first stage of a case control study using >400,000 SNPs from Illumina Infinium Human-1 and HumanHap300 assays. We focused on SNPs recently associated with heart disease by Helgadottir and colleagues and SNPs from the same haplotype block.
In analyses both unadjusted and adjusted for stroke risk factors, significant associations with ischemic stroke were observed for SNPs from the same haplotype block previously associated with myocardial infarction. Significant association was also seen between disease and haplotypes involving these SNPs, both with and without adjustment for stroke risk factors (odd ratios: 1.01 to 2.65).
These data are important for 3 reasons: first, they suggest a genetic association for stroke; second, they suggest that this association shares pathogenic mechanisms with heart disease and diabetes; and third, they illustrate, that public release of data can facilitate rapid risk locus discovery.
最近有独立研究报道称，位于9号染色体p21区域、靠近CDKN2A和CDKN2B基因的单核苷酸多态性（SNP）与冠心病之间存在关联。鉴于中风是心肌梗死后的常见并发症，我们调查了在我们的人群中，相同的SNP是否与缺血性中风有关。
我们最近启动了一项缺血性中风的全基因组分析，并发表了一项病例对照研究的第一阶段结果，该研究使用了来自Illumina Infinium Human-1和HumanHap300检测的40多万个SNP。我们重点关注了Helgadottir及其同事最近报道的与心脏病相关的SNP以及来自同一单倍型块的SNP。
在未调整和调整中风危险因素的分析中，均观察到来自先前与心肌梗死相关的同一单倍型块的SNP与缺血性中风之间存在显著关联。在调整和未调整中风危险因素的情况下，疾病与涉及这些SNP的单倍型之间也均存在显著关联（比值比：1.01至2.65）。
这些数据之所以重要，有三个原因：第一，它们表明中风存在遗传关联；第二，它们表明这种关联与心脏病和糖尿病具有共同的致病机制；第三，它们表明，数据的公开发布有助于快速发现风险位点。
