- Email: [email protected]
The impact of haplogroup R1b-DF27 in Hispanic admixed populations from Latin America
Forensic Science International: Genetics Supplement Series xxx (xxxx) xxx–xxx
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/fsigss
The impact of haplogroup R1b-DF27 in Hispanic admixed populations from Latin America Patricia Villaescusaa, Paula Blázqueza, Begoña Martínez-Jarretab, Susana Jiménezc, Oscar Álvarez-Gilad, Marian M. de Pancorboa,* a
BIOMICs Research Group, Lascaray Ikergunea Center of Research, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain Research Group GIIS-063 IIS-Aragón and Department of Pharmacology, Forensic Medicine and Toxicology, University of Zaragoza, Zaragoza, Spain c Forensic Medicine Division, Department of Pathology and Surgery, University Miguel Hernandez Elche, Alicante, Spain d Department of Medieval, Modern and American History, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain b
A R T I C LE I N FO
A B S T R A C T
Keywords: Y-chromosome Y-SNPs DF27 Latin America
The study of Y-chromosome SNPs allows to link haplogroups to paternal biogeographical ancestry. The analysis of haplogroup R1b-M269 and its subhaplogroups in Latin American populations can help to assess the European paternal contribution. The objective of this work was to study the presence of R1b-DF27 in Latin American Mestizo populations. The obtained results reveal an average frequency of 29–35% with a north-south increasing pattern, seeming to agree with the influence of the Spanish commerce routes with America in the colonial era. Thus, the finding of DF27 in a forensic context could be due to individuals of both European and Latin American ancestry. In summary, the present work highlights the interest to further analyze R1b- DF27 in Latin America.
1. Introduction
2. Material and methods
The populations of Latin America have been influenced historically by male-mediated migrations during the colonial period stemming mainly from the European countries of Spain and Portugal, and Africa [1]. The admixture of the local populations of Amerindians and Europeans gave rise to admixed populations known as Mestizos, characterized by a European-Native American mixed ancestry where the paternal lineage is usually of European origin [2]. The analysis of Y-chromosome SNPs (Y-SNPs) allows to stablish haplogroups and paternal biogeographical ancestry. R1b-M269, and its subhaploproup R1b-S116, are among the most common West European paternal lineages [3,4]. The R1b-S116 sublineage R1b-DF27 has been found to be near-specific of the Iberian Peninsula [5–7] and its analysis could contribute to deepen the paternal the European/Iberian introgression in Latin America. The objective of the present work is to study the presence of R1bDF27 in Latin American Mestizo populations from five countries, Panamá, Nicaragua, El Salvador, Guatemala and Colombia.
2.1. Population sample Blood or saliva samples were collected after informed consent from 230 unrelated healthy Mestizo males from Panamá (N = 53), Nicaragua (N = 72), El Salvador (N = 29), Guatemala (N = 44) and Colombia (N = 32) (Fig. 1A). The Nicaragua and Colombia Mestizo samples come from two bigger collections that had been previously genotyped for R1b-M269 [8,9]. The study was approved with favorable ethical reports from the University of the Basque Country (26th September 2008) and the independent Ethics Committee Zugueme No PROZU315-12 (2012). 2.2. Molecular analysis R1b-DF27 was genotyped by High Resolution Melting as described in [5]. 2.3. Statistical analysis Haplogroup frequencies were calculated manually and frequency contour maps were drawn with SURFER v10 (Golden Software). Haplogroup frequencies from Mexico (N = 32), Colombia (N = 43)
⁎ Corresponding author at: BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Avda. Miguel de Unamuno, 3, 01006, Vitoria-Gasteiz, Spain. E-mail address: [email protected] (M.M. de Pancorbo).
https://doi.org/10.1016/j.fsigss.2019.10.062 Received 15 September 2019; Received in revised form 3 October 2019; Accepted 7 October 2019 1875-1768/ © 2019 Elsevier B.V. All rights reserved.
Please cite this article as: Patricia Villaescusa, et al., Forensic Science International: Genetics Supplement Series, https://doi.org/10.1016/j.fsigss.2019.10.062
Forensic Science International: Genetics Supplement Series xxx (xxxx) xxx–xxx
P. Villaescusa, et al.
Fig. 1. A) Geographic location of the studied populations. In black population analyzed in the present stud. Mexico, Puerto Rico and Antioquia (Colombia) data were obtained from 1000 Genomes Project [10]. B) Contour map of the derived allele frequencies of R1b-DF27 (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article).
R1b-DF27 in Latin American populations collected in the 1000 Genomes Project [10], displaying an increasing gradient of frequencies from Mexico to Colombia (Fig. 1B). The distribution of R1b-DF27 frequencies in the five population samples seems to agree with the influence of the main commerce routes between Spain and America during the colonial era, which allows to explain the possible reason behind the higher frequencies found in Colombia, where the main port linked to Spanish trade was located [11].
and Puerto Rico (N = 54) were retrieved from 1000 Genomes Project [10]. 3. Results and discussion The observed frequencies for R1b-DF27 are shown in Table 1. The European haplogroup R1b-DF27 displays an average frequency of 28–35%, being the highest in Colombia and the lowest in El Salvador (Table 1, Fig. 1B). The observed frequencies are in concordance with the few data of 2
Forensic Science International: Genetics Supplement Series xxx (xxxx) xxx–xxx
P. Villaescusa, et al.
Acknowledgements
Table 1 R1b-DF27 frequencies in the analyzed samples of population. Population
N
R1b-DF27 frequency (%)
Colombia Panamá Nicaragua El Salvador Guatemala Mexicoa Puerto Ricoa Colombiaa
60 53 165 29 44 32 54 43
35.00 32.08 32.73 27.59 29.55 9.38 33.33 37.21
a
Funds were provided by the Basque Government (Grupo Consolidado IT-998-16 and IT-1271-19). The authors are grateful to PhD Maite Álvarez for her human and technical assistance provided on the DNA Bank Service (SGIker) of the University of the Basque Country UPV/EHU (European funding: ERDF and ESF), as well to all the people who voluntarily participated in this study. References [1] K. Adhikari, J. Mendoza-Revilla, J.C. Chacón-Duque, et al., Admixture in Latin America, Curr. Opin. Genet. Dev. 41 (2014) 106–114. [2] M. Sans, Admixture studies in Latin America: from the 20th century to the 21th century, Hum. Biol. 72 (2000) 155–177. [3] N.M. Myres, S. Rootsi, A.A. Lim, et al., A major Y-chromosome haplogroup R1b holocene era founder effect in central and Western Europe, Eur. J. Hum. Genet. 19 (2011) 95–101. [4] P. Balaresque, G.R. Bowden, S.M. Adams, et al., A predominantly Neolithic origin for European paternal lineages, PLoS Biol. 8 (2010) e1000285. [5] L. Valverde, M.J. Illescas, P. Villaescusa, et al., New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia, Eur. J. Hum. Genet. 24 (2016) 437–441. [6] P. Villaescusa, M.J. Illescas, L. Valverde, et al., Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain, Forensic Sci. Int. Genet. 27 (2017) 142–148. [7] N. Solé-Morata, P. Villaescusa, C. García-Fernández, et al., Analysis of the R1bDF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ, Sci. Rep. 7 (2017) 7341. [8] C. Núñez, M. Geppert, M. Baeta, et al., Y chromosome haplogroup diversity in a Mestizo population of Nicaragua, Forensic Sci. Int. Genet. 6 (2012) e192–195. [9] M. Baeta, C. Núñez, P. Villaescusa, et al., Assessment of a subset of slowly mutating Y-STRs for forensic and evolutionary studies, Forensic Sci. Int. Genet. 34 (2018) e7–12. [10] The 1000 Genomes Project Consortium, A global reference for human genetic variation, Nature 526 (2015) 68–74. [11] E. Lorenzo, Comercio de España con América en la época de Felipe II, Diputación Provincial de Valladolid, Valladolid, 1979.
refers to population extracted from 1000 Genomes Project [10].
4. Conclusions Our results show that R1b-DF27 is present in Latin America in frequencies between 9–37%, displaying a south-north decreasing gradient. Moreover, the distribution pattern seems to agree with the Spanish trade routes with America in the colonial period, observing maximum frequencies where the trade relation with Spain was more intense. It would be of high interest to further analyze the presence of R1b-DF27 in Latin America in order to get a more detailed picture of its distribution. In summary, our results indicate that finding R1b-DF27 in forensic casework in European countries, as Spain, with a high rate of emigrants from Latin America, could be due to individuals of both European and Latin American origin. Declaration of Competing Interest The authors have declared no conflict of interest.
3
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/fsigss
The impact of haplogroup R1b-DF27 in Hispanic admixed populations from Latin America Patricia Villaescusaa, Paula Blázqueza, Begoña Martínez-Jarretab, Susana Jiménezc, Oscar Álvarez-Gilad, Marian M. de Pancorboa,* a
BIOMICs Research Group, Lascaray Ikergunea Center of Research, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain Research Group GIIS-063 IIS-Aragón and Department of Pharmacology, Forensic Medicine and Toxicology, University of Zaragoza, Zaragoza, Spain c Forensic Medicine Division, Department of Pathology and Surgery, University Miguel Hernandez Elche, Alicante, Spain d Department of Medieval, Modern and American History, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain b
A R T I C LE I N FO
A B S T R A C T
Keywords: Y-chromosome Y-SNPs DF27 Latin America
The study of Y-chromosome SNPs allows to link haplogroups to paternal biogeographical ancestry. The analysis of haplogroup R1b-M269 and its subhaplogroups in Latin American populations can help to assess the European paternal contribution. The objective of this work was to study the presence of R1b-DF27 in Latin American Mestizo populations. The obtained results reveal an average frequency of 29–35% with a north-south increasing pattern, seeming to agree with the influence of the Spanish commerce routes with America in the colonial era. Thus, the finding of DF27 in a forensic context could be due to individuals of both European and Latin American ancestry. In summary, the present work highlights the interest to further analyze R1b- DF27 in Latin America.
1. Introduction
2. Material and methods
The populations of Latin America have been influenced historically by male-mediated migrations during the colonial period stemming mainly from the European countries of Spain and Portugal, and Africa [1]. The admixture of the local populations of Amerindians and Europeans gave rise to admixed populations known as Mestizos, characterized by a European-Native American mixed ancestry where the paternal lineage is usually of European origin [2]. The analysis of Y-chromosome SNPs (Y-SNPs) allows to stablish haplogroups and paternal biogeographical ancestry. R1b-M269, and its subhaploproup R1b-S116, are among the most common West European paternal lineages [3,4]. The R1b-S116 sublineage R1b-DF27 has been found to be near-specific of the Iberian Peninsula [5–7] and its analysis could contribute to deepen the paternal the European/Iberian introgression in Latin America. The objective of the present work is to study the presence of R1bDF27 in Latin American Mestizo populations from five countries, Panamá, Nicaragua, El Salvador, Guatemala and Colombia.
2.1. Population sample Blood or saliva samples were collected after informed consent from 230 unrelated healthy Mestizo males from Panamá (N = 53), Nicaragua (N = 72), El Salvador (N = 29), Guatemala (N = 44) and Colombia (N = 32) (Fig. 1A). The Nicaragua and Colombia Mestizo samples come from two bigger collections that had been previously genotyped for R1b-M269 [8,9]. The study was approved with favorable ethical reports from the University of the Basque Country (26th September 2008) and the independent Ethics Committee Zugueme No PROZU315-12 (2012). 2.2. Molecular analysis R1b-DF27 was genotyped by High Resolution Melting as described in [5]. 2.3. Statistical analysis Haplogroup frequencies were calculated manually and frequency contour maps were drawn with SURFER v10 (Golden Software). Haplogroup frequencies from Mexico (N = 32), Colombia (N = 43)
⁎ Corresponding author at: BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Avda. Miguel de Unamuno, 3, 01006, Vitoria-Gasteiz, Spain. E-mail address: [email protected] (M.M. de Pancorbo).
https://doi.org/10.1016/j.fsigss.2019.10.062 Received 15 September 2019; Received in revised form 3 October 2019; Accepted 7 October 2019 1875-1768/ © 2019 Elsevier B.V. All rights reserved.
Please cite this article as: Patricia Villaescusa, et al., Forensic Science International: Genetics Supplement Series, https://doi.org/10.1016/j.fsigss.2019.10.062
Forensic Science International: Genetics Supplement Series xxx (xxxx) xxx–xxx
P. Villaescusa, et al.
Fig. 1. A) Geographic location of the studied populations. In black population analyzed in the present stud. Mexico, Puerto Rico and Antioquia (Colombia) data were obtained from 1000 Genomes Project [10]. B) Contour map of the derived allele frequencies of R1b-DF27 (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article).
R1b-DF27 in Latin American populations collected in the 1000 Genomes Project [10], displaying an increasing gradient of frequencies from Mexico to Colombia (Fig. 1B). The distribution of R1b-DF27 frequencies in the five population samples seems to agree with the influence of the main commerce routes between Spain and America during the colonial era, which allows to explain the possible reason behind the higher frequencies found in Colombia, where the main port linked to Spanish trade was located [11].
and Puerto Rico (N = 54) were retrieved from 1000 Genomes Project [10]. 3. Results and discussion The observed frequencies for R1b-DF27 are shown in Table 1. The European haplogroup R1b-DF27 displays an average frequency of 28–35%, being the highest in Colombia and the lowest in El Salvador (Table 1, Fig. 1B). The observed frequencies are in concordance with the few data of 2
Forensic Science International: Genetics Supplement Series xxx (xxxx) xxx–xxx
P. Villaescusa, et al.
Acknowledgements
Table 1 R1b-DF27 frequencies in the analyzed samples of population. Population
N
R1b-DF27 frequency (%)
Colombia Panamá Nicaragua El Salvador Guatemala Mexicoa Puerto Ricoa Colombiaa
60 53 165 29 44 32 54 43
35.00 32.08 32.73 27.59 29.55 9.38 33.33 37.21
a
Funds were provided by the Basque Government (Grupo Consolidado IT-998-16 and IT-1271-19). The authors are grateful to PhD Maite Álvarez for her human and technical assistance provided on the DNA Bank Service (SGIker) of the University of the Basque Country UPV/EHU (European funding: ERDF and ESF), as well to all the people who voluntarily participated in this study. References [1] K. Adhikari, J. Mendoza-Revilla, J.C. Chacón-Duque, et al., Admixture in Latin America, Curr. Opin. Genet. Dev. 41 (2014) 106–114. [2] M. Sans, Admixture studies in Latin America: from the 20th century to the 21th century, Hum. Biol. 72 (2000) 155–177. [3] N.M. Myres, S. Rootsi, A.A. Lim, et al., A major Y-chromosome haplogroup R1b holocene era founder effect in central and Western Europe, Eur. J. Hum. Genet. 19 (2011) 95–101. [4] P. Balaresque, G.R. Bowden, S.M. Adams, et al., A predominantly Neolithic origin for European paternal lineages, PLoS Biol. 8 (2010) e1000285. [5] L. Valverde, M.J. Illescas, P. Villaescusa, et al., New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia, Eur. J. Hum. Genet. 24 (2016) 437–441. [6] P. Villaescusa, M.J. Illescas, L. Valverde, et al., Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain, Forensic Sci. Int. Genet. 27 (2017) 142–148. [7] N. Solé-Morata, P. Villaescusa, C. García-Fernández, et al., Analysis of the R1bDF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ, Sci. Rep. 7 (2017) 7341. [8] C. Núñez, M. Geppert, M. Baeta, et al., Y chromosome haplogroup diversity in a Mestizo population of Nicaragua, Forensic Sci. Int. Genet. 6 (2012) e192–195. [9] M. Baeta, C. Núñez, P. Villaescusa, et al., Assessment of a subset of slowly mutating Y-STRs for forensic and evolutionary studies, Forensic Sci. Int. Genet. 34 (2018) e7–12. [10] The 1000 Genomes Project Consortium, A global reference for human genetic variation, Nature 526 (2015) 68–74. [11] E. Lorenzo, Comercio de España con América en la época de Felipe II, Diputación Provincial de Valladolid, Valladolid, 1979.
refers to population extracted from 1000 Genomes Project [10].
4. Conclusions Our results show that R1b-DF27 is present in Latin America in frequencies between 9–37%, displaying a south-north decreasing gradient. Moreover, the distribution pattern seems to agree with the Spanish trade routes with America in the colonial period, observing maximum frequencies where the trade relation with Spain was more intense. It would be of high interest to further analyze the presence of R1b-DF27 in Latin America in order to get a more detailed picture of its distribution. In summary, our results indicate that finding R1b-DF27 in forensic casework in European countries, as Spain, with a high rate of emigrants from Latin America, could be due to individuals of both European and Latin American origin. Declaration of Competing Interest The authors have declared no conflict of interest.
3