Genome-wide genotyping of existing samples from Asian American and Pacific Islander participants in the California Teachers Study cohort to facilitate broad and open future research

项目总结/摘要 本申请是为了响应被标识为NOT-CA的特别利益通知（NOSI）而提交的- 21-049.我们的加州教师研究（CTS）是一项癌症流行病学队列研究（CEC）， 帮助实现本通知的目标。我们建议利用现有的生物标本， 在种系全基因组基因分型数据库中代表种族/少数民族样本， 伴随的暴露，表型和结果数据;并与研究人员广泛分享这些数据 社区来自种族/少数民族人群的CTS参与者最近捐赠了生物标本， 多年来提供了广泛的暴露、表型和结果数据。这些标本目前 储存在冰箱里，现在可以进行基因分型，并与社区分享，以获得高影响力和假设- 驱动研究。像CTS这样的大型CEC中的生物标本特别有价值，因为它们可以创造 直接研究环境、生活方式和生物标志物对癌症的综合影响的机会 风险和结果。今天，许多CEC都有生物样本，可以进行基因分型以创建多层次数据 可以用于癌症风险和结果的综合分析。在本申请中，我们描述了三个 这些因素使CTS特别有资格加速NCI在这一领域的研究目标。一、 虽然CTS是CEC，但CTS也不仅仅是CEC。自成立以来，CTS一直使用高效的 与加州住院数据库进行数据链接，以获得详细的个人水平住院、急诊 部门，以及所有提供血液的参与者的门诊手术结果数据 样品这意味着CTS的基因分型数据不仅可以支持癌症研究项目， 其他重要的慢性疾病（例如，心脏病、糖尿病和痴呆）和医疗保健终点。 第二，此应用程序侧重于亚裔美国人和太平洋岛民（AAPI）CTS参与者。作为一个群体， AAPI具有更高的癌症风险，但研究严重不足，特别是在CEC中。AAPI也是 令人难以置信的多样性，这使得精确的AAPI集中研究成为一项挑战。CTS中的AAPI表型 已经被详细描述，并以有助于加速基础广泛的基因组学研究的方式进行。CTS 参与者报告了他们自己的种族/民族以及他们父母的种族/民族。在每一个亚太裔族群中， 大约90%的CTS参与者的父母来自相同的AAPI种族群体;即，两 父母要么是中国人要么是越南人要么是菲律宾人这就创造了一种精确度， 扩展这些CTS数据可以支持的未来研究范围。第三，中国旅游协会是中国旅游协会中的佼佼者 数据共享。自2015年以来，我们开发了新的方式、工具和基础设施来共享所有CTS 与研究界的信息和资源。所有这些资产将有助于确保这一目标的成功。 项目这些样本越早进行基因分型，就越早可以被社区用于高- 影响研究项目，促进数据共享，并帮助缩小AAPI研究的差距。

PROJECT SUMMARY/ABSTRACT This application is being submitted in response to the Notice of Special Interest (NOSI) identified as NOT-CA- 21-049. Our California Teachers Study (CTS), a cancer epidemiology cohort (CEC), is ideally positioned to help advance the goals of this Notice. We propose to leverage existing biospecimens to increase representation of racial/ethnic minority samples in germline genome-wide genotyping data repositories with accompanying exposure, phenotype, and outcome data; and to broadly share these data with the research community. CTS participants from racial/ethnic minority populations recently donated biospecimens and have provided extensive and broad exposure, phenotype, and outcome data for years. The specimens are currently stored in freezers and can now be genotyped and shared with the community for high-impact and hypothesis- driven research. Biospecimens in large CECs like the CTS are especially valuable because they create opportunities to directly investigate the combined influence of environment, lifestyle, and biomarkers on cancer risks and outcomes. Many CECs today have biospecimens that could be genotyped to create multi-level data that can be used for integrative analyses into cancer risks and outcomes. In this application, we describe three factors that make the CTS especially well qualified to accelerate the NCI's research goals in this area. One, although the CTS is a CEC, the CTS is also more than just a CEC. Since it began, the CTS has used efficient data-linkages with California hospitalization databases to obtain detailed individual-level inpatient, emergency department, and ambulatory surgery outcomes data for all of its participants who have provided blood samples. This means CTS's genotyping data can support not just cancer research projects, but also research on other important chronic diseases (e.g., heart disease, diabetes, and dementia) and health-care endpoints. Two, this application focuses on Asian-American and Pacific Islander (AAPI) CTS participants. As a group, AAPIs are at higher risk of cancer but significantly understudied, especially within CECs. AAPIs are also incredibly diverse, and this makes precise AAPI-focused research a challenge. AAPI phenotypes in the CTS have been characterized in detail and in ways that can help accelerate broad-based genomics research. CTS participants reported their own race/ethnicity and that of both of their parents. Within every AAPI ethnic group, approximately 90% of CTS participants have parents who were from the same AAPI ethnic group; i.e., both parents were Chinese, or were Vietnamese, or were Filipino. This creates a level of precision that will further extend the future range of research that these CTS data can support. Third, the CTS is a leader among CECs in data sharing. Since 2015, we have developed new ways, tools, and infrastructure to share all CTS information and resources with the research community. All of those assets will help ensure the success of this project. The sooner these samples are genotyped, the sooner they can be used by the community for high- impact research projects that promote data sharing and help close gaps in AAPI research.