De Oliveira Thais C, Secolin Rodrigo, Lopes-Cendes Iscia
Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
The Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, Brazil.
Front Genet. 2023 Jan 19;14:1091269. doi: 10.3389/fgene.2023.1091269. eCollection 2023.
Genomics can reveal essential features about the demographic evolution of a population that may not be apparent from historical elements. In recent years, there has been a significant increase in the number of studies applying genomic epidemiological approaches to understand the genetic structure and diversity of human populations in the context of demographic history and for implementing precision medicine. These efforts have traditionally been applied predominantly to populations of European origin. More recently, initiatives in the United States and Africa are including more diverse populations, establishing new horizons for research in human populations with African and/or Native ancestries. Still, even in the most recent projects, the under-representation of genomic data from Latin America and the Caribbean (LAC) is remarkable. In addition, because the region presents the most recent global miscegenation, genomics data from LAC may add relevant information to understand population admixture better. Admixture in LAC started during the colonial period, in the 15th century, with intense miscegenation between European settlers, mainly from Portugal and Spain, with local indigenous and sub-Saharan Africans brought through the slave trade. Since, there are descendants of formerly enslaved and Native American populations in the LAC territory; they are considered vulnerable populations because of their history and current living conditions. In this context, studying LAC Native American and African descendant populations is important for several reasons. First, studying human populations from different origins makes it possible to understand the diversity of the human genome better. Second, it also has an immediate application to these populations, such as empowering communities with the knowledge of their ancestral origins. Furthermore, because knowledge of the population genomic structure is an essential requirement for implementing genomic medicine and precision health practices, population genomics studies may ensure that these communities have access to genomic information for risk assessment, prevention, and the delivery of optimized treatment; thus, helping to reduce inequalities in the Western Hemisphere. Hoping to set the stage for future studies, we review different aspects related to genetic and genomic research in vulnerable populations from LAC countries.
基因组学能够揭示一个群体人口演变的基本特征,而这些特征可能从历史因素中并不明显。近年来,应用基因组流行病学方法来理解人口历史背景下人类群体的遗传结构和多样性以及实施精准医学的研究数量显著增加。这些研究传统上主要应用于欧洲裔人群。最近,美国和非洲的一些项目纳入了更多样化的人群,为研究具有非洲和/或本土血统的人类群体开辟了新的视野。然而,即使在最近的项目中,拉丁美洲和加勒比地区(LAC)基因组数据代表性不足的情况仍然显著。此外,由于该地区呈现出全球最新的混合情况,来自LAC的基因组数据可能会为更好地理解群体混合提供相关信息。LAC的混合始于15世纪的殖民时期,当时主要来自葡萄牙和西班牙的欧洲定居者与当地原住民以及通过奴隶贸易带来的撒哈拉以南非洲人之间发生了强烈的混合。此后,LAC地区有曾经被奴役者和美洲原住民的后裔;由于他们的历史和当前生活条件,他们被视为弱势群体。在这种背景下,研究LAC的美洲原住民和非洲后裔群体具有几个重要原因。首先,研究不同起源的人类群体能够更好地理解人类基因组的多样性。其次,这对这些群体也有直接应用,比如让社区了解他们的祖先起源。此外,由于了解群体基因组结构是实施基因组医学和精准健康实践的基本要求,群体基因组学研究可以确保这些社区能够获取用于风险评估、预防和提供优化治疗的基因组信息;从而有助于减少西半球的不平等现象。希望为未来的研究奠定基础,我们回顾了与LAC国家弱势群体的遗传和基因组研究相关的不同方面。