Human genetic determinants of COVID-19 in Brazil: challenges and future plans.

IF 1.3 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Genetics and Molecular Biology Pub Date : 2024-01-15 eCollection Date: 2024-01-01 DOI:10.1590/1678-4685-GMB-2023-0128
Bibiana S de Oliveira Fam, Marilea Furtado Feira, Nathan Araujo Cadore, Renan Sbruzzi, Tábita Hünemeier, Laurent Abel, Qian Zhang, Jean-Laurent Casanova, Fernanda Sales Luiz Vianna
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Abstract

COVID-19 pandemic represented a worldwide major challenge in different areas, and efforts undertaken by the scientific community led to the understanding of some of the genetic determinants that influence the different COVID-19 outcomes. In this paper, we review the studies about the role of human genetics in COVID-19 severity and how Brazilian studies also contributed to those findings. Rare variants in genes related to Inborn Errors of Immunity (IEI) in the type I interferons pathway, and its phenocopies, have been described as being causative of severe outcomes. IEI and its phenocopies are present in Brazil, not only in COVID-19 patients, but also in autoimmune conditions and severe reactions to yellow fever vaccine. In addition, studies focusing on common variants and GWAS studies encompassing worldwide patients have found several loci associated with COVID-19 severity. A GWAS study including only Brazilian COVID-19 patients identified a new locus 1q32.1 associated with COVID-19 severity. Thus, more comprehensive studies considering the Brazilian genomic diversity should be performed, since they can help to reveal not only what are the genetic determinants that contribute to the different outcomes for COVID-19 in the Brazilian population, but in the understanding of human genetics in different health conditions.

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巴西 COVID-19 的人类基因决定因素:挑战与未来计划。
COVID-19 大流行是不同领域的全球性重大挑战,科学界的努力促使人们了解了影响 COVID-19 不同结果的一些遗传决定因素。在本文中,我们回顾了有关人类遗传学在 COVID-19 严重性中的作用的研究,以及巴西的研究如何对这些发现做出了贡献。I 型干扰素通路中与先天性免疫错误(IEI)相关的基因中的罕见变异及其表型已被描述为可导致严重后果。在巴西,IEI 及其表型不仅出现在 COVID-19 患者中,还出现在自身免疫性疾病和对黄热病疫苗的严重反应中。此外,以常见变异为重点的研究和涵盖全球患者的基因组研究发现了多个与 COVID-19 严重程度相关的基因位点。一项仅包括巴西 COVID-19 患者的 GWAS 研究发现了一个与 COVID-19 严重程度相关的新位点 1q32.1。因此,应该对巴西基因组的多样性进行更全面的研究,因为这些研究不仅有助于揭示导致巴西人群 COVID-19 不同结果的遗传决定因素,还有助于了解不同健康状况下的人类遗传学。
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来源期刊
Genetics and Molecular Biology
Genetics and Molecular Biology 生物-生化与分子生物学
CiteScore
4.20
自引率
4.80%
发文量
111
审稿时长
3 months
期刊介绍: Genetics and Molecular Biology (formerly named Revista Brasileira de Genética/Brazilian Journal of Genetics - ISSN 0100-8455) is published by the Sociedade Brasileira de Genética (Brazilian Society of Genetics). The Journal considers contributions that present the results of original research in genetics, evolution and related scientific disciplines. Manuscripts presenting methods and applications only, without an analysis of genetic data, will not be considered.
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