Contrasting the ancestry patterns of three distinct population groups from the northernmost region of South America

Olivares, Fernanda Mogollón; Madero, Julie Moncada; Casas-Vargas, Andrea; Montoya, Sara Zea; Medellín, Dayana Suárez; Gusmão, Leonor; Usaquén, William

doi:10.1002/ajpa.24130

Cited by 5 publications

(6 citation statements)

References 47 publications

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“…The populations of European ancestry with high frequencies present similar frequencies. An example of this is the Argentine population among which frequencies similar to those of European countries have been found, corroborating the Caucasian origin of this repetition ( 14 , 42 , 43 ). Colombia is a triethnic country, made up of a population of Native American, African, and European origin.…”

Section: Discussionsupporting

confidence: 73%

“…Colombia is a triethnic country, made up of a population of Native American, African, and European origin. Bogotá, the capital of Colombia, has a typical multiple ancestry population, showing a high proportion of people of European ancestry, followed by Native American and African ( 42 ). The higher frequency of Amerindian genetic markers presents a coherent result with a low frequency of repetition.…”

Section: Discussionmentioning

confidence: 99%

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Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

et al. 2021

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Frontotemporal dementia (FTD) is a highly heritable condition. Up to 40% of FTD is familial and an estimated 15% to 40% is due to single-gene mutations. It has been estimated that the G4C2 hexanucleotide repeat expansions in the C9ORF72 gene can explain up to 37.5% of the familial cases of FTD, especially in populations of Caucasian origin. The purpose of this paper is to evaluate hereditary risk across the clinical phenotypes of FTD and the frequency of the G4C2 expansion in a Colombian cohort diagnosed with FTD.Methods: A total of 132 FTD patients were diagnosed according to established criteria in the behavioral variant FTD, logopenic variant PPA, non-fluent agrammatic PPA, and semantic variant PPA. Hereditary risk across the clinical phenotypes was established in four categories that indicate the pathogenic relationship of the mutation: high, medium, low, and apparently sporadic, based on those proposed by Wood and collaborators. All subjects were also examined for C9ORF72 hexanucleotide expansion (defined as >30 repetitions).Results: There were no significant differences in the demographic characteristics of the patients between the clinical phenotypes of FTD. The higher rate phenotype was bvFTD (62.12%). In accordance with the risk classification, we found that 72 (54.4%) complied with the criteria for the sporadic cases; for the familial cases, 23 (17.4%) fulfilled the high-risk criteria, 23 (17.4%) fulfilled the low risk criteria, and 14 (10.6%) fulfilled the criteria to be classified as subject to medium risk. C9ORF72 expansion frequency was 0.76% (1/132).Conclusion: The FTD heritability presented in this research was very similar to the results reported in the literature. The C9ORF72 expansion frequency was low. Colombia is a triethnic country, with a high frequency of genetic Amerindian markers; this shows consistency with the present results of a low repetition frequency. This study provides an initial report of the frequency for the hexanucleotide repeat expansions in C9ORF72 in patients with FTD in a Colombian population and paves the way for further study of the possible genetic causes of FTD in Colombia.

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Section: Discussionsupporting

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

et al. 2021

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“…Furthermore, a close look at the LAC countries also reveals the different distribution of ancestry proportions in subpopulations and regions, as observed in Cuba ( Fortes-Lima et al, 2018 ), Garifuna population in Honduras ( Herrera-Paz et al, 2010 ), Mexico ( Rubi-Castellanos et al, 2009 ; Silva-Zolezzi et al, 2009 ), Venezuela ( Moura et al, 2015 ), Colombia ( Godinho et al, 2008 ; Ibarra et al, 2014 ; Mogollón Olivares et al, 2020 ; Chande et al, 2021 ), Bolivia ( Heinz et al, 2013 ; Taboada-Echalar et al, 2013 ), Paraguay ( Simão et al, 2021 ), Argentina ( Godinho et al, 2008 ), Chile ( Eyheramendy et al, 2015 ) and Brazil ( Kehdy et al, 2015 ; Moura et al, 2015 ; Mychaleckyj et al, 2017 ; Secolin et al, 2019 ; 2021 ). Also, as observed in several studies, the admixture events were sex biased and occurred between European males and Native American and/or sub-Saharan African females in Cuba ( Mendizabal et al, 2008 ), Jamaica ( Deason et al, 2012 ), Dominican Republic ( D’Atanasio et al, 2020 ), Nicaragua ( Nuñez et al, 2010 ), Belize ( Monsalve and Hagelberg, 1997 ), El Salvador ( Lovo-Gómez et al, 2007 ; Casals et al, 2022 ), Panama ( Migliore et al, 2021 ), Costa Rica ( Carvajal-Carmona et al, 2003 ), Mexico ( Green et al, 2000 ), Ecuador ( González-Andrade et al, 2007 ), Colombia ( Carvajal-Carmona et al, 2003 ), Brazil ( Pena et al, 2011 ), Uruguay ( Sans et al, 2002 ), and Argentina ( Dipierri et al, 1998 ).…”

Section: Admixture In Lacmentioning

confidence: 87%

A review of ancestrality and admixture in Latin America and the caribbean focusing on native American and African descendant populations

Oliveira

Secolin²,

Lopes-Cendes³

2023

Front. Genet.

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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.

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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

Genes

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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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Contrasting the ancestry patterns of three distinct population groups from the northernmost region of South America

Cited by 5 publications

References 47 publications

Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

A review of ancestrality and admixture in Latin America and the caribbean focusing on native American and African descendant populations

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

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