RESUMO
The clinical condition COVID-19, caused by SARS-CoV-2, was declared a pandemic by the WHO in March 2020. Currently, there are more than 5 million cases worldwide, and the pandemic has increased exponentially in many countries, with different incidences and death rates among regions/ethnicities and, intriguingly, between sexes. In addition to the many factors that can influence these discrepancies, we suggest a biological aspect, the genetic variation at the viral S protein receptor in human cells, ACE2 (angiotensin I-converting enzyme 2), which may contribute to the worse clinical outcome in males and in some regions worldwide. We performed exomics analysis in native and admixed South American populations, and we also conducted in silico genomics databank investigations in populations from other continents. Interestingly, at least ten polymorphisms in coding, noncoding and regulatory sites were found that can shed light on this issue and offer a plausible biological explanation for these epidemiological differences. In conclusion, there are ACE2 polymorphisms that could influence epidemiological discrepancies observed among ancestry and, moreover, between sexes.
Assuntos
Enzima de Conversão de Angiotensina 2/genética , COVID-19/genética , Polimorfismo de Nucleotídeo Único/genética , COVID-19/virologia , Exoma/genética , Feminino , Humanos , Masculino , Fases de Leitura Aberta/genética , RNA não Traduzido/genética , Sequências Reguladoras de Ácido Ribonucleico/genética , América do SulRESUMO
The valley of the Magdalena River is one of the main population pathways in Colombia. The gene pool and spatial configuration of human groups in this territory have been outlined throughout three historical stages: the Native pre-Hispanic world, Spanish colonization, and XIX century migrations. This research was designed with the goal of characterizing the diversity and distribution pattern of Y-chromosome lineages that are currently present in the Tolima and Huila departments (middle Magdalena River region). Historic cartography was used to identify the main geographic sites where the paternal lineages belonging to this area have gathered. Twelve municipalities were chosen, and a survey that included genealogical information was administered. Samples collected from 83 male volunteers were analyzed for 48 Y-SNPs and 17 Y-STRs. The results showed a highly diverse region characterized by the presence of 16 sublineages within the major clades R, Q, J, G, T and E and revealed that 93% (n = 77) of haplotypes were different. Among these haplogroups, European-specific R1b-M269 lineages were the most representative (57.83%), with six different subhaplogroups and 43 unique haplotypes. Native American paternal ancestry was also detected based on the presence of the Q1a2-M3*(xM19, M194, M199) and Q1a2-M346*(xM3) lineages. Interestingly, all Q1a2-M346*(xM3) samples (n = 7, with five different haplotypes) carried allele six at the DYS391 locus. This allele has a worldwide frequency of 0.169% and was recently associated with a new Native subhaplogroup. An in-depth phylogenetic analysis of these samples suggests the Tolima and Huila region to be the principal area in all Central and South America where this particular Native lineage is found. This lineage has been present in the region for at least 1,809 (+/- 0,5345) years.
Assuntos
Cromossomos Humanos Y , Migração Humana , População Negra/genética , Colômbia , Frequência do Gene , Haplótipos , Humanos , Indígenas Sul-Americanos/genética , Masculino , Filogeografia , Polimorfismo de Nucleotídeo Único , Floresta Úmida , Rios , População Branca/genéticaAssuntos
Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Proteínas/genética , Esquizofrenia/genética , Proteínas Adaptadoras de Transporte Vesicular , Idade de Início , Etnicidade , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Razão de Chances , Esquizofrenia/etnologiaRESUMO
Dados genéticos e demográficos da populaçäo de Santarém, PA, foram analisados. Oitenta e dois por cento dos indivíduos estudados nasceram no Estado do Pará e 11,7 por cento dos imigrantes nasceram na regiäo Nordeste do Brasil. A análise da migraçäo individual média, distância marital média, distância genitor-prole e índice de exogamia identificou uma elevada mobilidade populacional. Alelos característicos dos três principais grupos étnicos foram encontrados, como BCHE*A (caucasóides) ALB*Maku (indígenas) e HBB*S e HBB*C (negros). As proporçöes de ancestralidade negra, índia e branca foram estimadas em 28 por cento, 35 por cento e 37 por cento, respectivamente. Condiderando-se o local de nascimento dos avós, a presença de uma subpopulaçäo pôde ser observada (nativos de Santarém). As proporçöes de ancestralidade negra e índia foram de 11 por cento e 52 por cento respectivamente, significantemente diferentes da amostra total. A estratégia usada, portanto, mostrou-se eficiente para a caracterizaçäo dos fatores responsáveis pela estrutura genético-demográfica desta populaçäo.
