Amerindian genetic ancestry as a risk factor for tuberculosis in an amazonian population

Leal, Diana Feio da Veiga Borges; Silva, Mayara Natália Santana da; Fernandes, Débora Cristina Ricardo de Oliveira; Rodrigues, Juliana Carla Gomes; Barros, Maria Clara da Costa; Pinto, Pablo Diego do Carmo; Pastana, Lucas Favacho; Silva, Cleonardo Augusto da; Fernandes, Marianne Rodrigues; Assumpção, Paulo Pimentel de; Santos, Sidney Emanuel Batista dos; Santos, Ney Pereira Carneiro dos

doi:10.1371/journal.pone.0236033

Cited by 21 publications

(15 citation statements)

References 40 publications

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“…However, studies of precision medicine have demonstrated the importance of screening not only genetically homogeneous populations, such as the European one, but also Amerindian people distributed worldwide. It has been shown that populations with a high prevalence of Amerindian genomic ancestry have an increased predisposition to develop acute lymphoblastic leukemia, stomach cancer, and tuberculosis [ 22 , 23 , 24 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Cohen-Paes

Alcântara

Moreira

et al. 2022

Genes

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Native American populations from the Brazilian Amazon have a low genetic diversity and a different genetic profile when compared to people from other continents. Despite this, few studies have been conducted in this group, and there is no description of their genetic data in the various currently existent international databases. The characterization of the genomic profile of a population not only has an impact in studies of population genetics, but also helps to advance diagnostic and therapeutic response studies, leading to the optimization of clinical applicability. Genetic variations in DNA repair genes have been associated with the modulation of susceptibility to various pathologies, as well as in their prognosis and therapy. This is the first study to investigate DNA repair genes in Amerindians from the Brazilian Amazon region. We investigated 13 important DNA repair genes in the exome of 63 Native Americans, comparing our results with those found in 5 continental populations, whose data are available in the Genome Aggregation Database. Our results showed that 57 variants already described in literature were differentially distributed in the Amerindian populations in relation to the continental populations, 7 of which have significant clinical relevance. In addition, 9 new variants were described, suggesting that they are unique to these populations. Our study reinforces the understanding that the Amazonian Native American population presents a unique genetic profile, and our findings may collaborate with the creation of public policies that optimize the quality of life of these groups as well as the Brazilian population, which presents a high degree of interethnic mixing with Amerindian groups.

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Section: Introductionmentioning

confidence: 99%

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Cohen-Paes

Alcântara

Moreira

et al. 2022

Genes

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“…Our previous study investigated the effect of ancestral background on TB susceptibility among the Brazilian Amazonian population. The results indicated that Amerindian (compared to African and European) ancestry populations were significantly associated as a risk factor for susceptibility to TB in the Brazilian Amazonian population (Leal et al, 2020). In the present study, we used ancestry-informative markers (AIMs) to estimate genetic ancestry and control for stratification to investigate genetic association among Brazilian admixed populations.…”

Section: Discussionmentioning

confidence: 95%

Genetic Variants of MicroRNA and DROSHA Genes in Association With the Risk of Tuberculosis in the Amazon Population

et al. 2022

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Tuberculosis (TB) is a chronic infection caused by Mycobacterium tuberculosis (Mtb) with high incidence and mortality. Studies reported that host genetic variants might be associated with the risk of tuberculosis. The aim of this study was to perform an association study between 26 single nucleotide polymorphisms (SNPs) and tuberculosis and evaluate whether these SNPs may confer risk factors to tuberculosis in the Amazon population. There were 52 males and 126 females, with total of 178 healthy controls. Genotyping was performed using TaqMan Open Array Genotyping. Ancestry-informative markers were used to estimate the ancestral proportions of the individuals in the case and control groups. The results indicated that the SNPs rs10035440 (DROSHA), rs7372209 (miR26-a1), rs1834306 (miR100), rs4919510 (miR608), and rs10739971 (pri-let-7a-1) were significantly associated with high risk and rs3746444 (miR499) and rs6505162 (miR423), with low risk of developing tuberculosis in the Amazon population. Our study concluded that seven miRNA polymorphisms were associated with tuberculosis. Our study contributes to a better understanding of TB pathogenesis and may promote the development of new diagnostic tools against M. tuberculosis infection.

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“…Analysis was carried out using the "Use Population Information" option, and allele frequencies were correlated and updated using only individuals with POPFLAG = 1. A gradient map based on the proportions of European ancestry in admixed South American populations [14,24,25,[27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] was designed in the Surfer software v.16.0.330 (Golden Software, LLC, Golden, CO, USA), using the Kriging method for interpolating frequency values.…”

Section: Discussionmentioning

confidence: 99%

The Ancestry of Eastern Paraguay: A Typical South American Profile with a Unique Pattern of Admixture

Simão¹,

Ribeiro²,

Vullo³

et al. 2021

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Immigrants from diverse origins have arrived in Paraguay and produced important demographic changes in a territory initially inhabited by indigenous Guarani. Few studies have been performed to estimate the proportion of Native ancestry that is still preserved in Paraguay and the role of females and males in admixture processes. Therefore, 548 individuals from eastern Paraguay were genotyped for three marker sets: mtDNA, Y-SNPs and autosomal AIM-InDels. A genetic homogeneity was found between departments for each set of markers, supported by the demographic data collected, which showed that only 43% of the individuals have the same birthplace as their parents. The results show a sex-biased intermarriage, with higher maternal than paternal Native American ancestry. Within the native mtDNA lineages in Paraguay (87.2% of the total), most haplogroups have a broad distribution across the subcontinent, and only few are concentrated around the Paraná River basin. The frequency distribution of the European paternal lineages in Paraguay (92.2% of the total) showed a major contribution from the Iberian region. In addition to the remaining legacy of the colonial period, the joint analysis of the different types of markers included in this study revealed the impact of post-war migrations on the current genetic background of Paraguay.

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Amerindian genetic ancestry as a risk factor for tuberculosis in an amazonian population

Cited by 21 publications

References 40 publications

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Genetic Variants of MicroRNA and DROSHA Genes in Association With the Risk of Tuberculosis in the Amazon Population

The Ancestry of Eastern Paraguay: A Typical South American Profile with a Unique Pattern of Admixture

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