A genome-wide genotyping study in patients with ischaemic stroke:: initial analysis and data release
A genome-wide genotyping study in patients with ischaemic stroke:: initial analysis and data release
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DOI：
10.1016/s1474-4422(07)70081-9
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发表时间：
2007-05-01
期刊：
影响因子：
48
通讯作者：
Meschia, James F.
中科院分区：
文献类型：
--
作者：
Matarin, Mar;Brown, W. Mark;Meschia, James F.
背景尽管有证据表明遗传因素在中风中起作用，但这种毁灭性疾病的常见遗传危险因素的识别仍然存在问题。我们的目的是确定任何常见的遗传变异发挥中度至较大的影响缺血性中风的风险，并产生公开可用的全基因组基因型数据，以方便他人做同样的事情。方法我们应用全基因组高密度单核苷酸多态性（SNP）基因分型方法与缺血性中风和非缺血性中风的样本队列（分别为278例和275例），并在249例病例和268例对照的最终队列中进行了调整已知混杂因素的关联分析。超过400 000独特的SNPs进行了assayed.Findings我们产生了超过200万的基因型在553个独特的参与者。所有对照组的原始基因型已经在先前的帕金森病研究中公开发布。通过这一努力，88%的中风患者的基因型和等位基因关联测试结果已经公开发布，这些患者提供了适当的同意公开发布。这些数据的初步分析并没有发现任何单一的位点赋予缺血性stroke. Interpretation风险的大的影响-这里产生的数据包括中风患者的全基因组关联分析的第一阶段。从每个同意的个人的这些公开可用的样本中生成的第一阶段结果的发布使该数据集成为数据挖掘和增强的宝贵资源。
Background Despite evidence of a genetic role in stroke, the identification of common genetic risk factors for this devastating disorder remains problematic. We aimed to identify any common genetic variability exerting a moderate to large effect on risk of ischaemic stroke, and to generate publicly available genome-wide genotype data to facilitate others doing the same.Methods We applied a genome-wide high-density single-nucleotide-polymorphism (SNP) genotyping approach to a cohort of samples with and without ischaemic stroke (n=278 and 275, respectively), and did an association analysis adjusted for known confounders in a final cohort of 249 cases and 268 controls. More than 400 000 unique SNPs were assayed.Findings We produced more than 200 million genotypes in 553 unique participants. The raw genotypes of all the controls have been posted publicly in a previous study of Parkinson's disease. From this effort, results of genotype and allele association tests have been publicly posted for 88% of stroke patients who provided proper consent for public release. Preliminary analysis of these data did not reveal any single locus conferring a large effect on risk for ischaemic stroke.Interpretation The data generated here comprise the first phase of a genome-wide association analysis in patients with stroke. Release of phase I results generated in these publicly available samples from each consenting individual makes this dataset a valuable resource for data-mining and augmentation.