Boquett Juliano A, Bisso-Machado Rafael, Zagonel-Oliveira Marcelo, Schüler-Faccini Lavínia, Fagundes Nelson J R
Instituto Nacional de Genética Médica Populacional (iNaGeMP), Porto Alegre, Brazil.
Post-graduate Program in Child and Adolescent Health, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
HLA. 2020 Jan;95(1):3-14. doi: 10.1111/tan.13723. Epub 2019 Nov 13.
Brazil is the fifth largest country in the world in area and the fifth most populous. The Brazilian voluntary Bone Marrow Donor Registry is the third largest in terms of number of donors in the world, being a valuable source of HLA genetics to characterize the donor population of Brazil as well. The genetic background of the Brazilian population is quite heterogeneous, resulting from 5 centuries of admixture among Native Americans, Europeans and Africans, making the Brazilian population unique in terms of genetic ancestry. The unique characteristics of populations in different Brazilian regions make them an exciting focus for genetic diversity studies. Studies on HLA genetic diversity of Brazilian populations have been conducted since the late 1980s and, in this review, we highlight the main findings from studies carried out in Brazil based on classical HLA. In addition, we calculated the genetic distance from the molecular data of the studies included in this review in order to have a broader view of the HLA diversity in Brazilian populations. We emphasize that characterization of HLA diversity is not only important for transplantation programs, but can shed a light on ancestry, history and other demographic patterns with or without association with autoimmune disease.
巴西是世界上面积第五大、人口第五多的国家。巴西自愿骨髓捐赠者登记处按捐赠者数量计算是世界第三大登记处，也是表征巴西捐赠者群体的HLA遗传学的宝贵来源。巴西人口的遗传背景非常多样化，这是5个世纪以来美洲原住民、欧洲人和非洲人混合的结果，使得巴西人口在遗传血统方面独一无二。巴西不同地区人群的独特特征使其成为遗传多样性研究的一个令人兴奋的焦点。自20世纪80年代末以来，人们一直在对巴西人群的HLA遗传多样性进行研究，在本综述中，我们重点介绍了基于经典HLA在巴西开展的研究的主要发现。此外，我们根据本综述中纳入研究的分子数据计算了遗传距离，以便更全面地了解巴西人群中的HLA多样性。我们强调，HLA多样性的表征不仅对移植项目很重要，而且可以揭示血统、历史以及其他与自身免疫性疾病有关或无关的人口模式。
