Nederkoorn Paul J, van Dijk Ewoud J, Koudstaal Peter J, Luijckx Gert-Jan, van Oostenbrugge Robert J, Visser Marieke C, Wermer Marieke J H, Ruigrok Ynte M, Algra Ale, Kappelle L Jaap
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Int J Stroke. 2015 Jan;10(1):120-2. doi: 10.1111/ijs.12359. Epub 2014 Aug 17.
In the last couple of years, genome-wide association studies have largely altered the scope in genetic research in diseases in which both environmental and genetic risk factors contribute to the disease. To date, the genetic risk loci identified in stroke have lagged behind those in other complex diseases, possibly because of the heterogeneity of stroke phenotypes. Sufficiently large cohorts with well-defined and detailed phenotyping of stroke patients are needed to identify additional genetic risk loci.
The String-of-Pearls Institute is a unique partnership between all eight University Medical Centers in the Netherlands. It was established in 2007 by the Netherlands Federation of University Medical Centers, and it conducts a large prospective cohort study in which comprehensive clinical data, detailed phenotyping of stroke, imaging data, and biomaterials are collected in a large cohort of stroke patients.
The study aims (1) to collect a sufficiently large prospective cohort of stroke patients, with well-defined phenotypes; (2) to collect blood samples and DNA in a standardized infrastructure, allowing for storing and analyzing the samples in a uniform way; (3) to investigate associations between genetic risk loci and stroke; (4) to create possibilities to perform epidemiological studies in a well-defined hospital-based cohort of stroke patients; and (5) to allow for pooling data with other large ongoing genetic stroke studies.
在过去几年中,全基因组关联研究在很大程度上改变了环境和遗传风险因素共同导致疾病的遗传研究范围。迄今为止,中风中确定的遗传风险位点落后于其他复杂疾病,这可能是由于中风表型的异质性所致。需要有足够大的队列,对中风患者进行明确且详细的表型分析,以确定其他遗传风险位点。
“珍珠链”研究所是荷兰八所大学医学中心之间的独特合作项目。它由荷兰大学医学中心联合会于2007年成立,开展一项大型前瞻性队列研究,在一大群中风患者中收集全面的临床数据、中风的详细表型、影像数据和生物材料。
该研究旨在(1)收集足够大的具有明确表型的中风患者前瞻性队列;(2)在标准化基础设施中收集血样和DNA,以便以统一方式存储和分析样本;(3)研究遗传风险位点与中风之间的关联;(4)为在明确的基于医院的中风患者队列中进行流行病学研究创造可能性;(5)允许与其他正在进行的大型中风遗传研究合并数据。