CIDR: Genome Wide Association Study in Familial Parkinson Disease (PD). Homo sapiens

This proposal brings together the two largest NIH funded genetic studies focused on the identification of novel genes that influence the risk of PD. These two studies, PROGENI (PI: Tatiana Foroud; R01NS037167) and GenePD (PI: Richard Myers; R01NS036711) have been evaluating and recruiting families with two or more PD affected members for more than 8 years and represent the largest such cohorts world-wide. The combined sample has more than 1,000 PD families. Each study has used rigorous clinical criteria to assess their study participants. Unlike previous genome wide association studies (GWAS) in PD, all the PD cases in this proposal have a positive family history of disease. In the vast majority of these families, the index PD case has at least one sibling with the disease. Thus, the sample is unique for having substantial evidence for a genetic contribution to disease. The control group for this study consists of samples previously collected and maintained... (for more see dbGaP study page.)

本项目整合了两项由美国国立卫生研究院（National Institutes of Health, NIH）资助的、全球规模最大的帕金森病（Parkinson’s Disease, PD）易感新基因鉴定遗传研究。两项研究分别为PROGENI（项目负责人[Principal Investigator, PI]：塔蒂亚娜·福鲁德；项目编号：R01NS037167）与GenePD（项目负责人[Principal Investigator, PI]：理查德·迈尔斯；项目编号：R01NS036711），二者已针对至少包含2名帕金森病受累成员的家系开展评估与招募工作超过8年，是目前全球范围内规模最大的同类研究队列。合并后的样本涵盖超过1000个帕金森病家系，且两项研究均采用严格的临床标准对研究对象进行评估。与既往帕金森病全基因组关联研究（Genome-Wide Association Study, GWAS）不同，本项目纳入的所有帕金森病病例均具有明确的疾病家族史。在绝大多数此类家系中，先证帕金森病病例至少拥有1名患病同胞。因此，该样本的独特优势在于其具备充分的疾病遗传贡献相关证据。本研究的对照组由此前收集并留存的样本组成（更多详情请参见dbGaP研究页面）。