Uniparental ancestry markers in Chilean populations

Vieira-Machado, Camilla D.; Tostes, Maluah; Alves, Gabrielle; Nazer, Julio; Martínez, Liliana; Wettig, Elisabeth; Rivadeneira, Oscar Pizarro; Caamaño, Marcela Diaz; Ascui, Jessica Larenas; Pavez, Pedro; Dutra, Maria da Graça; Castilla, Eduardo E.; Orioli, Iêda M.

doi:10.1590/1678-4685-gmb-2015-0273

Cited by 9 publications

(12 citation statements)

References 30 publications

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“…At regional level, the relatively high preservation of the Native American ancestry obtained in current urban Patagonia populations might be related to the late incorporation of this region to the National State (Law 1584, 1884), which allowed the Native populations to keep their autonomy for longer. Also, it might be related to the high migratory flow that the Patagonia region received from the inland provinces and from bordering countries, mainly Chile, with high Native American genetic background [4,36–38].…”

Section: Resultsmentioning

confidence: 99%

Genetic admixture patterns in Argentinian Patagonia

Parolín

Toscanini

Velázquez

et al. 2019

Preprint

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3940 As for other Latin American populations, Argentinians are the result of the admixture 41 amongst different continental groups, mainly from America and Europe, and to a lesser 42 extent from Sub-Saharan Africa. However, it is known that the admixture processes did 43 not occur homogeneously throughout the country. Therefore, considering the importance 44 for anthropological, medical and forensic researches, this study aimed to investigate the 45 population genetic structure of the Argentinian Patagonia, through the analysis of 46 46 ancestry informative markers, in 433 individuals from five different localities. Overall, in 47 the Patagonian sample, the average individual ancestry was estimated as 35.8% Native 48 American (95% CI: 32.2-39.4%), 62.1% European (58.5-65.7%) and 2.1% African (1.7-49 2.4%). Comparing the five localities studied, statistically significant differences were 50 observed for the Native American and European contributions, but not for the African 51 ancestry. The admixture results combined with the genealogical information revealed 52 intra-regional variations that are consistent with the different geographic origin of the 53 participants and their ancestors. As expected, a high European ancestry was observed for 54 donors with four grandparents born in Europe (96.8%) or in the Central region of 55 Argentina (85%). In contrast, the Native American ancestry increased when the four 56 grandparents were born in the North (71%) or in the South (61.9%) regions of the country, 57 or even in Chile (60.5%). In summary, our results showed that differences on continental 58 ancestry contribution have different origins in each region in Patagonia, and even in each 59 locality, highlighting the importance of knowing the origin of the participants and their 60 ancestors for the correct interpretation and contextualization of the genetic information.

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Section: Resultsmentioning

confidence: 99%

Genetic admixture patterns in Argentinian Patagonia

Parolín

Toscanini

Velázquez

et al. 2019

Preprint

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“…The estimates on the Chilean population were based mostly on studies of a few urban centers and very few regions of the autosomal genome. Studies using genetic markers with uniparental inheritance have shown an asymmetrical admixture of the ancestral European and Amerindian genomes by sex, as a consequence of Spanish men mating with Amerindian women during the first century of colonization, which has produced 84% Amerindian mitochondrial DNA [12] and less than 20% Amerindian Y chromosomes in the current Chilean population [13,14]. This asymmetrical admixture has also been demonstrated for other contemporary Latin American populations [15,16].…”

Section: Introductionmentioning

confidence: 97%

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components

et al. 2020

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Background: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socioeconomic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. Results: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors.

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“…Interestingly, one Robinson Crusoe Islander was found by Y-Fitter to carry the R1 haplogroup (defined by M173) which is basal to the common European subclades R1a and R1b. R clade haplogroups are common in both North ( Malhi et al, 2008 ) and South American indigenous ( Vieira-Machado et al, 2016 ) populations. They are the second most common Y haplogroup detected in South American males ( Malhi et al, 2008 ) and is considered to be as a result of early European colonization ( O’Rourke and Raff, 2010 ; Vieira-Machado et al, 2016 ).…”

Section: Resultsmentioning

confidence: 99%

“…Both these rates of indigenous haplogroups are substantially lower than those reported by previous studies of Chilean populations. Vieira-Machado et al (2016) reported 88.2% indigenous mitochondrial haplogroups from individuals tested in a number of hospitals in Santiago. Similarly, Rocco et al (2002) found 84% of mitochondrial haplogroups were indigenous in a mixed Santiago population.…”

Section: Discussionmentioning

confidence: 99%

“…These findings are consistent with male founders being of Northern European (Swiss, German, British), Southern European (Spanish) and Chilean ancestry ( Woodward, 1969 ; Villanueva et al, 2008 , 2014 , 2015a ). However, due to the high rate of European Y haplogroups in South American populations ( Carvajal-Carmona et al, 2000 ; Rocco et al, 2002 ; Eyheramendy et al, 2015 ; Vieira-Machado et al, 2016 ) it is not possible to distinguish Chilean founder males from European.…”

Section: Discussionmentioning

confidence: 99%

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The Genetic Population Structure of Robinson Crusoe Island, Chile

et al. 2020

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Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.

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Uniparental ancestry markers in Chilean populations

Cited by 9 publications

References 30 publications

Genetic admixture patterns in Argentinian Patagonia

Genetic admixture patterns in Argentinian Patagonia

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components

The Genetic Population Structure of Robinson Crusoe Island, Chile

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