Mapping the Intersection: Self-identification and Genetic Ancestry

绘制交叉点：自我认同和遗传祖先

• 批准号: 8768334
• 负责人: JILL Allison HOLLENBACH
• 金额: $ 24.9万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-09 至 2016-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8768334
• 关键词: Address; African American; Area; Attitude; Biomedical Research; Bone Marrow; Categories; Censuses; Classification; Collaborations; Consent; Country; Data; Data Collection; Demography; Development; Dimensions; Discipline; Electronics; Enrollment; Ethnic Origin; Ethnic group; Future; Genealogical Tree; Genealogy; Genetic; Genetic Markers; Genetic Research; Genetic Variation; Genotype; HLA Antigens; Health; Health Policy; Hispanics; Human; Human Genetics; Individual; Investigation; Knowledge; Maps; Marrow; Measures; Medical Genetics; Medical Research; Methods; Metric; Motivation; Native Americans; Nature; Online Systems; Participant; Patient Self-Report; Play; Population; Population Genetics; Population Group; Public Policy; Questionnaire Designs; Questionnaires; Race; Reaction; Recruitment Activity; Registries; Relative (related person); Reporting; Research; Research Personnel; Respondent; Role; Scientist; Specificity; Surveys; Testing; Time; United States; Variant; Work; base; cohort; design; genetic analysis; human leukocyte antigen gene; interest; novel; population health; prevent; programs; racial and ethnic; response; social; social implication; social science research; user-friendly

PROJECT SUMMARY/ABSTRACT Assignment of individuals to categories of race, ethnicity and ancestry impacts health and public policy, yet the practice remains both scientifically and culturally controversial. The established means of determining race and ethnicity, as commonly used for census and health questionnaires, is self-identification. However data is accumulating from social science research showing that an individual's reported ancestry is dependent on social and cultural context. At the same time, modern genetic studies have identified robust markers of ancestry. Although some studies have shown good correlation between genetic ancestry and self-identified race and ethnicity (SIRE) for major ethnic groups in the United States, there is less correspondence and inconsistent classifications for heterogeneous and admixed groups, most notably for African American, Hispanic and multi-race individuals. While it is clear that current classifications based on SIRE do not align reliably with genetic ancestry, alternative means of self-identification have not been tested in the context of genetics. Contention over racial and ethnic definitions and the role of genetics in social science research has resulted in limited interdisciplinary work examining how individuals self-identify. This study will build on contemporary knowledge in population genetics and social demography in a novel cross-disciplinary study to produce a framework for understanding ancestry that integrates both self-identification and genetic information. We will perform rigorous assessment of alternative approaches to measuring SIRE by direct comparison between survey responses and genetic markers for the same individuals. We will design questionnaires that query multiple dimensions of ancestry and group identity. Based on these survey responses we will utilize computational approaches to identify clusters of individuals and validate them against those determined from genetic analysis. We will examine whether novel and multiple measures of race, ethnicity and ancestry allow for more consistent and salient classifications of human population groups than previously achieved. We will also develop novel self-identification methods for historically admixed populations for whom current means of self-identification and classification align poorly with genetic ancestry. We will measure the degree to which individuals' motivations or interest in personal genealogy and ancestry play a role in their responses to questions regarding their own ancestry, and query respondents on general attitudes toward defining and interpreting genetic ancestry. Our findings will allow assessment of the factors contributing to variation between SIRE and genetic ancestry and development of best practices for future use of SIRE for medical and genetic research. Further, given the broad applications of SIRE data in the U.S., this study has the potential to transform methodological approaches to the study of race, ethnicity and ancestry not only among a wide range of disciplines but also for public policy data collection.

项目总结/摘要 将个人分配到种族、族裔和血统类别会影响健康和公共政策， 这种做法在科学和文化上仍然存在争议。确定种族的既定手段， 人口普查和健康问题单通常使用的族裔是自我认同。然而，数据 社会科学研究的积累表明，一个人报告的祖先依赖于 社会和文化背景。与此同时，现代遗传学研究已经确定了 祖先尽管一些研究表明遗传祖先和自我认同之间有很好的相关性， 种族和民族（SIRE）在美国的主要种族群体，有较少的对应关系， 对异质和混合群体的不一致分类，特别是对非洲裔美国人， 西班牙裔和多种族的人。虽然很明显，目前基于SIRE的分类并不一致， 可靠的遗传祖先，自我认同的替代手段还没有得到测试的背景下， 遗传学关于种族和民族定义以及遗传学在社会科学研究中的作用的争论， 导致有限的跨学科工作，研究个人如何自我认同。这项研究将建立在 当代知识在人口遗传学和社会人口学在一个新的跨学科研究， 产生一个框架来理解祖先，整合自我认同和遗传信息。 我们将通过直接比较对测量SIRE的替代方法进行严格评估 调查结果和同一个体的遗传标记之间的差异。我们将设计调查问卷， 查询祖先和群体身份的多个维度。根据这些调查结果，我们将利用 计算方法，以确定集群的个人和验证他们对那些确定从 遗传分析我们将研究是否新的和多种措施的种族，民族和祖先允许 比以前实现的更一致和突出的人口群体分类。我们将 还为历史上混合的人群开发新的自我识别方法， 自我认同和分类与遗传祖先不一致。我们将衡量 个人的动机或对个人家谱和祖先的兴趣在他们对以下问题的反应中发挥作用： 关于他们自己的祖先的问题，并询问受访者对定义和 解读遗传祖先我们的研究结果将允许评估的因素之间的变化 SIRE和遗传祖先以及为未来将SIRE用于医疗和遗传 research.此外，鉴于SIRE数据在美国的广泛应用，这项研究有可能 改变研究种族、族裔和血统的方法，不仅在广泛的 同时也用于公共政策数据收集。