Addition of OCD to the Genomic Psychiatry Cohort

描述（由申请人提供）：本项目通过确定和招募5000名强迫症患者，并对5000名强迫症患者和5000名已经确定和基因分型的无强迫症匹配对照组进行全基因组关联研究（GWAS），资助基因组精神病学队列（GPC）的扩展。这项研究是实现必要的发现的统计能力的关键一步。我们将使全球范围内可获得的强迫症GWAS参与者总数增加一倍以上，并创建唯一一个可重新联系的强迫症大型队列。GPC是一个基于南加州大学的大型（n=33,000）临床队列，旨在成为大规模基因组研究的主要资源，关注RDoC和/或其他替代表型结构的研究，嵌套病例对照/临床研究，长期疾病病程研究以及基因组变异-表型研究（Pato等人，2013）。此外，GPC是“开源”的，因为队列可以被批准的非南加州大学的研究人员访问，以进行额外的合作研究。GPC目前由精神分裂症患者（n=10,000）、双相情感障碍患者（n=5,000）、这些患者的家庭成员（n=3,000）和没有强迫症、精神分裂症或双相情感障碍病史或家族史的对照参与者（n=15,000）组成。我们能够重新联系超过88%的参与者。提出的GPC-OCD队列和我们已证明的达到或超过大规模遗传研究样本收集目标的记录使我们能够通过(i)发现额外的遗传风险因素（罕见和常见），在了解OCD的分子基础方面取得进一步进展；（ii）确定一个足够大的特定遗传变异群体，以研究它们与各级神经精神表型的关系，包括但不限于疾病本身。

DESCRIPTION (provided by applicant): This project funds the expansion the Genomic Psychiatry Cohort (GPC) by ascertaining and enrolling 5,000 patients suffering from Obsessive-Compulsive Disorder (OCD) and performing a genome-wide association study (GWAS) on 5,000 OCD patients and 5,000 already ascertained and genotyped OCD-free matched controls. This study is a critical step to achieving the necessary statistical power for discovery. We will more than double the total number of available world-wide participants for GWAS of OCD, and create the only large re-contactable cohort for OCD. The GPC is a large (n=33,000), USC-based, clinical cohort designed to be a major resource for large-scale genomic studies, studies focusing on RDoC and/or other alternate phenotype constructs, nested case- control/clinical studies, long-term disease course studies, and genomic variant-to-phenotype studies (Pato et al, 2013). Additionally, the GPC is "Open Source" in that the cohort can be accessed for additional collaborative studies by approved non-USC based investigators. The GPC is currently composed of patients with schizophrenia (n=10,000), patients with bipolar disorder (n=5,000), family members of these patients (n=3,000) and control participants with no history or family history of OCD, schizophrenia or bipolar disorder (n=15,000). We are able to re-contact more than 88% of the participants. The proposed GPC-OCD cohort and our proven track record of meeting, or exceeding, the sample collection goals for large-scale genetic studies positions us very well to make further progress in understanding the molecular basis of OCD by (i) the discovery of additional genetic risk factors (rare and common); and (ii) identifying a large enough group of specific genetic variations to study how they relate to neuropsychiatric phenotypes at all levels, including, but not limited to, the illnesses themselves.