CIDR: GENOTYPING SERVICES USING GWAS ILLUMINA H3AFRICA ARRAY FOR NINDS (OWOLABI)

中风是全球第二大死亡原因。在美国，缺血性中风占中风的90%，是几个复杂和相互作用的生物过程的临床高潮，由 各种遗传和环境因素，从而使对其潜在机制的现成分析具有挑战性。中风的大量遗传风险仍未得到解释。此外，遗传变异 以前在非洲和欧洲美国人中与中风有关的药物无法转化为临床使用，因为它们还没有得到验证和功能注释。更好地了解这些独特的 要形成成功的量身定做的干预措施以减轻这一巨大负担，各种因素是必不可少的。由于其较高的卒中遗传率和精细定位的分辨率，非洲大陆人群拥有推动卒中基因组学进步的王牌，但从未被纳入卒中GWAS研究。SIBS基因组学的总体目标是发现、复制和功能表征与非洲血统的人的缺血性中风相关的新的遗传变异。SIBS基因组公司将利用NIH在美国和非洲由SIBS基因组公司调查人员领导的几项倡议，包括中风调查研究和 教育网络(SIREN U54HG007479)，这是对非洲血统人群中风的最大研究。事实上，SIBS基因组学承诺大大推进发现缺血性中风新遗传基因座的全球努力，从而促进对缺血性中风相应分子机制的理解，原因如下：a)使用具有全面协变量数据集的准确表型受试者 (SIREN开发的专利的特殊中风表型软件)，b)使用由美国国立卫生研究院资助的最有效的新芯片，用于非洲血统中密集的全基因组关联研究，c)未被探索的人口与 显著更高的遗传率和中风的种族倾向；由于其低连锁不平衡，精细作图的分辨率更高。

Stroke is the second leading cause of death globally. Ischemic stroke which accounts for up to 90% of strokes in the USA, is the clinical culmination of several complex and interacting biological processes, initiated by various genetic and environmental factors, thereby making ready analyses of its underlying mechanisms challenging. A substantial amount of genetic risk for stroke remains unexplained. Moreover, genetic variants previously associated with stroke in African and European Americans could not be translated into clinical use because they have not been validated and functionally annotated. A better understanding of these unique factors is imperative for the formation of successful tailor-made interventions to mitigate this colossal burden. Due to its higher stroke heritability and resolution for fine mapping, the continental African population holds the aces to advancing stroke genomics but has never been included in stroke GWAS studies. The overall goal of SIBS-Genomics is to discover, replicate and functionally characterize novel genetic variants associated with ischemic stroke in people of African ancestry. SIBS Genomics will leverage several NIH-funded initiatives in the US and Africa led by SIBS Genomics investigators including the Stroke Investigative Research and Educational Network (SIREN U54HG007479), the largest study of stroke in people of African ancestry. Indeed SIBS Genomics promises to substantially advance the global effort to discover the novel genetic loci for ischemic stroke thereby facilitating the understanding of the corresponding molecular mechanisms of ischemic stroke for several reasons: a) use of accurately phenotyped subjects with comprehensive covariate dataset (special stroke phenotyping software with patent developed in SIREN), b) use of a novel NIH-funded most effective chip for dense genome-wide association study in African ancestry, c) an unexplored population with substantially higher heritability and racial predilection of stroke; and higher resolution for fine-mapping due to its low linkage disequilibrium.