Genetic Ancestry, Race, and Health Disparities: A Biocultural Approach

种族和人类疾病是遗传学和文化在其中起着关键和密不可分的作用的两个问题。此外，对复杂疾病中的种族差异的研究是当前人类遗传变异辩论的中心焦点。该项目将在生物文化背景下研究种族和疾病的遗传基础。推动这项研究的问题是，为什么非裔美国人患高血压的比例越来越高。这是一个关键的测试案例，因为散居在外的非洲人不成比例地患有许多复杂疾病，一些研究人员将其归因于一种基本的遗传共性。然而，这种观点是有问题的，因为很难界定种族群体，也因为它把环境对复杂疾病的影响降到最低。该项目为正在进行的研究增加了遗传成分，以测试非裔美国人高血压和压力相关表型中涉及的社会和文化因素。将收集350名非裔美国人的DNA样本，并分析这些样本的祖先信息遗传标记（用于估计遗传祖先）和参与高血压和相关表型的候选基因。本文将讨论三组问题：1)不同种族衡量标准之间的关联是什么？2)遗传祖先与高血压之间存在什么关联？3)当祖先、肤色测量和新的社会文化数据（如个人社交网络）被添加到模型中时，候选基因多态性与高血压之间的关联是否会改变？拟议的研究是对种族和人类疾病的独特生物文化调查，其中遗传和文化成分同样严格地加以处理。健康方面的种族不平等是科学界争论最激烈的问题之一。通常，争论的框架是遗传因素和社会文化因素之间的对立，而假设遗传因素和社会文化因素之间存在复杂的相互作用更为现实。然而，很少有研究能够测试遗传和社会文化因素的独立贡献，因为种族？通常不加批判地用作未指明的遗传、生理、行为或社会文化因素的代理。因此，这项研究有可能极大地改变我们思考种族、自我认同和健康的方式，以及我们研究这些现象的方式。

Race and human disease are two issues in which genetics and culture play critical and inextricably linked roles. Moreover, research on racial disparities in complex disease is a central focus of the current debate on human genetic variation. This project will investigate the genetic underpinnings of race and disease within a biocultural context. The question driving the research is why African Americans suffer an increased prevalence of hypertension. This is a key test case since people of the African Diaspora suffer disproportionately from a number of complex diseases, which some researchers attribute to a fundamental genetic commonality. However, this view is problematic because of difficulties in defining racial groups and because it minimizes environmental influences on complex disease. This project adds a genetic component to ongoing research to test social and cultural factors involved in hypertension and stress-related phenotypes in African-Americans. DNA samples will be collected from 350 African American individuals and those samples will be assayed for ancestry informative genetic markers (for an estimate of genetic ancestry) and for candidate genes involved in hypertension and related phenotypes. Three sets of questions will be addressed: 1) What are the associations between different measures of race? 2) What association exists between genetic ancestry and hypertension? 3) Are associations between candidate gene polymorphisms and hypertension modified when ancestry, measures of skin color, and novel sociocultural data, such as personal social networks, are added to the model?The proposed research is a unique biocultural investigation of race and human disease in which the genetic and cultural components are addressed with equal rigor. Racial inequalities in health are among the most hotly debated issues in science. Often the debate is framed in terms of an opposition between genetic and sociocultural factors, when it is more realistic to posit that that there are complex interactions between genetic and sociocultural factors. However, few studies are able to test the independent contributions of genetic and sociocultural factors because ?race? is often used uncritically as a proxy for unspecified genetic, physiologic, behavioral, or sociocultural factors. Thus, this research has the potential to dramatically transform the ways in which we think of race, self-identity and health, and the ways in which we study these phenomena.