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Admixture in three Hispanic populations: Ancestry proportions, population structure, and gene mapping (Mexico, Colorado, New York).

机译：在三个西班牙裔人口中混合：祖先比例，人口结构和基因作图（墨西哥，科罗拉多州，纽约）。

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摘要

Admixed populations constitute helpful natural experiments to understand evolutionary and epidemiological processes. Additionally, since admixture will create linkage disequilibrium (LD) between a disease risk allele and a marker locus, which will decay as a function of their distance and of the time since the beginning of admixture, recently admixed populations can be used to identify and map genes involved in complex trait inheritance as long as marker and trait differ substantially in frequency between parental populations. Admixture Mapping (AM) is a method that was developed to take advantage of this extended LD in admixed populations for the identification of complex trait genes. In Latin America, populations that were geographically isolated were brought together during the conquest and colonization of the American continent where they gave rise to a number of mixed populations with varying degrees of European, African, and Native American contributions. In the United States these populations are referred to as Hispanic or Latino, based on a definition created by the US Census Bureau. Despite the unifying label, Hispanic populations exhibit many differences related to culture, demography, socioeconomic status and genetic background. For this reason, this project advocates the study of particular Hispanic populations from a perspective that incorporates geographic and historical contexts. Three different Hispanic populations were studied: the Hispanic population of the San Luis Valley in southern Colorado which consists basically of Spanish Americans and Mexican Americans, a Puerto Rican population of women living in New York City, and the population of the city of Tlapa in the state of Guerrero, Mexico. Admixture proportions, extent of linkage disequilibrium, presence of population structure, and sex-biased gene flow were estimated in each case. To accomplish this goal a panel of autosomal, Y-linked and mitochondrial ancestry informative markers (AIMS) with large allele frequency difference between parental populations was assembled. In addition, the association of several complex phenotypes such as skin pigmentation, body mass index, and bone mineral density, with ancestry levels was assessed. Marker genotypes were also tested for association with these phenotypes. Skin pigmentation was significantly associated with ancestry in the San Luis Valley and the Puerto Rican populations, however, the markers that appeared associated with the trait were different in the two groups, suggesting the involvement of multiple candidate genes. Bone mineral density, but not body mass index, was correlated with ancestry in the Puerto Rican population. As expected, significant heterogeneity was found among these Hispanic populations as a result of differing histories of admixture and evolution following the admixture event. This variability will definitely influence the possibility of using these populations for AM of genes that underlie ethnic differences in complex disease/trait prevalence.
机译：混合种群构成了有益的自然实验，以了解进化和流行病学过程。另外，由于混合会在疾病风险等位基因和标记位点之间产生连锁不平衡（LD），连锁不平衡会随着距离的增加和混合开始后的时间而变，因此可以使用最近混合的种群来识别和定位只要亲代群体之间的标记和性状在频率上存在显着差异，参与复杂性状遗传的基因就大不相同。混合映射（AM）是一种开发方法，可利用混合群体中的这种扩展LD来鉴定复杂性状基因。在拉丁美洲，在美洲大陆的征服和殖民期间，地理上相互隔离的人口聚集在一起，在这里，他们产生了许多不同程度的欧洲，非洲和美洲原住民贡献的混合人口。在美国，根据美国人口普查局创建的定义，这些人口被称为西班牙裔或拉丁裔。尽管标签统一，但西班牙裔人口仍表现出与文化，人口统计学，社会经济地位和遗传背景有关的许多差异。因此，本项目主张从融合地理和历史背景的角度来研究特定的西班牙裔人口。研究了三种不同的西班牙裔人口：科罗拉多州南部圣路易斯谷的西班牙裔人口，主要由西班牙裔美国人和墨西哥裔美国人组成，波多黎各人居住在纽约市的妇女人数，以及特拉帕市的人口墨西哥格雷罗州。每种情况下都估计了混合比例，连锁不平衡的程度，种群结构的存在以及性别偏向的基因流。为了实现该目标，组装了一组在亲代群体之间具有大等位基因频率差异的常染色体，Y连锁和线粒体祖先信息标记（AIMS）。此外，评估了多种复杂的表型，例如皮肤色素沉着，体重指数和骨矿物质密度与血统水平的关联。还测试了标记基因型与这些表型的关联。皮肤色素沉着与圣路易斯山谷和波多黎各人的血统显着相关，但是，与该性状相关的标志物在两组中有所不同，表明涉及多个候选基因。波多黎各人口的骨矿物质密度与体重指数无关，与祖先相关。正如预期的那样，由于混合事件之后混合历史和演化的不同历史，在这些西班牙裔人群中发现了显着的异质性。这种变异性肯定会影响将这些群体用于AM基因的可能性，这些基因是复杂疾病/特征患病率种族差异的基础。

著录项

  • 作者

    Bonilla, Carolina.;

  • 作者单位

    The Pennsylvania State University.;

  • 授予单位 The Pennsylvania State University.;
  • 学科 Anthropology Physical.
  • 学位 Ph.D.
  • 年度 2003
  • 页码 p.2545
  • 总页数 225
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 人类学;
  • 关键词

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