Abstract
Amerindian Mapuche (Araucanians) are now living in Chile and Argentina at both sides of Andean Mountains. They are anthropologically and genetically different from southernmost South America Patagonian Amerindians. Most of the HLA alleles found in our Mapuche sample are frequent or very frequent in North and South America Amerindians: (1) Class I: A*02:01, A*03:01, A*68:01, B*39:09, B*51:01, (2) Class II: DRB1*03:01, DRB1*04:03, DRB1*07:01, DRB1*08:02, DRB1*14:02, DRB1*16:02. One of the nine most frequent extended haplotypes seems to be from European origin, suggesting the existence of a degree of admixture with Europeans in our Mapuche sample. It has been calculated of about 11 % admixture. Three of the extended haplotypes are also found in other Amerindians and five of them are newly found in Mapuche Amerindians: A*68:01-B*39:09-DRB1*08:02-DQB1*04:02; A*68:01-B*51:01-DRB1*04:03-DQB1*03:02; A*29:01-B*08:01-DRB1*03:01-DQB1*02:01; A*02:01-B*15:01-DRB1*04:03-DQB1*03:02; A*33:01-B*14:02-DRB1*07:01-DQB1*03:03. The medical importance of calculating HLA profile is discussed on the diagnostic (HLA and disease) and therapeutical bases of HLA pharmacogenomics and on the construction of a virtual transplantation HLA list profile. Also, anthropological conclusions are drawn.
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References
Crawford MH (1998) The Origins of Native Americans: evidence from anthropological genetics. Cambridge University Press, Cambridge
Kolman CJ, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142:1321–1334
Merriwether DA, Hall WW, Vahlne A, Ferrell RE (1996) mtDNA variation indicates Mongolia may have been the source for the founding population for the New World. Am J Hum Genet 59:204–212
Greenberg JH, Turner CG, Zegura SL (1986) The settlement of the Americas: a comparison of the linguistic, dental and genetic evidence. Curr Anthropol 27:477–498
Wallace DC, Torroni A (1992) American Indian prehistory as written in the mitochondrial DNA: a review. Hum Biol 64:403–416
Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton
Parham P, Ohta T (1996) Population biology of antigen presentation by MHC class I molecules. Science 272:67–74
Horai S, Kondo R, Nakagawa-Hattori Y, Hayashi S, Sonoda S, Tajima K (1993) Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol 10:23–47
Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH et al (1993) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591–608
Santos FR, Rodriguez-Delfin L, Pena SD, Moore J, Weiss KM (1996) North and South Amerindians may have the same major founder Y chromosome haplotype. Am J Hum Genet 58:1369–1370
Karafet T, Zegura SL, Vuturo-Brady J, Posukh O, Osipova L, Wiebe V et al (1997) Y chromosome markers and Trans-Bering Strait dispersals. Am J Phys Anthropol 102:301–314
Karafet TM, Zegura SL, Posukh O, Osipova L, Bergen A, Long J et al (1999) Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. Am J Hum Genet 64:817–831
Santos FR, Pandya A, Tyler-Smith C, Pena SD, Schanfield M, Leonard WR et al (1999) The central Siberian origin for native American Y chromosomes. Am J Hum Genet 64:619–628
Novick GE, Novick CC, Yunis J, Yunis E, Antunez DM, Scheer WD et al (1998) Polymorphic Alu insertions and the Asian origin of Native American populations. Hum Biol 70:23–39
Leon-S FE, Ariza-Deleon A, Leon-S ME, Ariza C (1996) Peopling the Americas. Science 273:723–725
Cerna M, Falco M, Friedman H, Raimondi E, Maccagno A, Fernandez-Vina M et al (1993) Differences in HLA class II alleles of isolated South American Indian populations from Brazil and Argentina. Hum Immunol 37:213–220
Bruges-Armas J, Martinez-Laso J, Martins B, Allende L, Gomez-Casado E, Longas J et al (1999) HLA in the Azores Archipelago: possible presence of Mongoloid genes. Tissue Antigens 54:349–359
Mulligan CJ, Kitchen A, Miyamoto MM (2008) Updated three-stage model for the peopling of the Americas. PLoS ONE 3:e3199
Goebel T, Waters MR, O’Rourke DH (2008) The late Pleistocene dispersal of modern humans in the Americas. Science 319:1497–1502
Ruhlen M (1987) A guide to the World’s languages, vol 1., ClassificationStanford University Press, Stanford
Mapuches (2012) Wikipedia, la enciclopedia libre. http://es.wikipedia.org/wiki/Mapuches. Accessed 27 Nov 2012
Blanco-Verea A, Jaime JC, Brion M, Carracedo A (2010) Y-chromosome lineages in native South American population. Forensic Sci Int Genet 4:187–193
Swadesh M (1959) Indian linguistic groups of Mexico. Escuela Nacional de Antropologia e Historia, Mexico
Ruhlen M (1991) A guide of the world’s languages. I. Classification. Edward Arnold, London
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, New York
Itoh Y, Mizuki N, Shimada T, Azuma F, Itakura M, Kashiwase K et al (2005) High-throughput DNA typing of HLA-A, -B, -C, and -DRB1 loci by a PCR–SSOP–Luminex method in the Japanese population. Immunogenetics 57:717–729
Arnaiz-Villena A, Timon M, Corell A, Perez-Aciego P, Martin-Villa JM, Regueiro JR (1992) Primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. N Engl J Med 327:529–533
ARLEQUIN (2000) a software for population genetics database analysis. Genetics and Biometry Laboratories, Department of Anthropology, University of Geneva
Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T (1992) Allele and haplotype frequencies for HLA and complement loci in various ethnic groups. In: Tsuji K, Aizawa M, Sasazuki T (eds) HLA 1991, 1st edn. Oxford University Press, Oxford, pp 1065–1220
Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T (1992) Estimation of allele and haplotype frequencies for HLA and complement loci. In: Tsuji K, Aizawa M, Sasazuki T (eds) HLA 1991, 1st edn. Oxford University Press, Oxford, pp 76–79
Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T (1992) Genetic relationships among various human populations indicated by MHC polymorphisms. In: Tsuji K, Aizawa M, Sasazuki T (eds) HLA 1991, 1st edn. Oxford University Press, Oxford, pp 627–632
Clayton J, Lonjou C (1997) Allele and haplotype frequencies for HLA loci in various ethnic groups. In: Charron D (ed) Genetic diversity of HLA. Functional and medical implications, 1st edn. EDK, Paris, pp 665–820
Saitou N, Nei M (1987) The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406–425
Nei M (1972) Genetic distances between populations. Am Nat 106:283
Nei M (1973) Analysis of gene diversity in subdivided populations. Proc Natl Acad Sci USA 70:3321–3323
Nei M, Tajima F, Tateno Y (1983) Accuracy of estimated phylogenetic trees from molecular data. II. Gene frequency data. J Mol Evol 19:153–170
Young FW, Bann CM (1996) A visual statistics system. In: Stine RA, Fox J (eds) Statistical computing environments for social researches. Sage Publications, London, pp 207–236
Arnaiz-Villena A, Parga-Lozano C, Moreno E, Areces C, Rey D, Gomez-Prieto P (2010) The origin of Amerindians and the peopling of the Americas according to HLA Genes: admixture with Asian and Pacific people. Curr Genomics 11:103–114
Becquemont L (2010) HLA: a pharmacogenomics success story. Pharmacogenomics 11:277–281
Perez-Bravo F, Martinez-Laso J, Martin-Villa JM, Moscoso J, Moreno A, Serrano-Vela JI et al (2006) HLA non-class II genes may confer type I diabetes susceptibility in a Mapuche (Amerindian) affected family. Eur J Med Genet 49:37–41
Parolin ML, Carnese FR (2009) HLA-DRB1 alleles in four Amerindian populations from Argentina and Paraguay. Genet Mol Biol 32:212–219
Silva NM, Pereira L, Poloni ES, Currat M (2012) Human neutral genetic variation and forensic STR data. PLoS ONE 7:e49666
Thorsby E, Flam ST, Woldseth B, Dupuy BM, Sanchez-Mazas A, Fernandez-Vina MA (2009) Further evidence of an Amerindian contribution to the Polynesian gene pool on Easter Island. Tissue Antigens 73:582–585
Arnaiz-Villena A (2011) Arnaiz-Villena at the Royal Society, UK, Conference “Origin of Amerindians and their genetic relatedness with Asian and Pacific islanders” (mp3). Antonio Arnaiz Villena personal page. http://chopo.pntic.mec.es/~biolmol/index.htm. Accessed 11 Jan 2013
Arnaiz-Villena A, Benmamar D, Alvarez M, Diaz-Campos N, Varela P, Gomez-Casado E et al (1995) HLA allele and haplotype frequencies in Algerians. Relatedness to Spaniards and Basques. Hum Immunol 43:259–268
Yunis JJ, Ossa H, Salazar M, Delgado MB, Deulofeut R, de la Hoz A et al (1994) Major histocompatibility complex class II alleles and haplotypes and blood groups of four Amerindian tribes of northern Colombia. Hum Immunol 41:248–258
Arnaiz-Villena A, Dimitroski K, Pacho A, Moscoso J, Gomez-Casado E, Silvera-Redondo C et al (2001) HLA genes in Macedonians and the sub-Saharan origin of the Greeks. Tissue Antigens 57:118–127
Martinez-Laso J, Gazit E, Gomez-Casado E, Morales P, Martinez-Quiles N, Alvarez M et al (1996) HLA DR and DQ polymorphism in Ashkenazi and non-Ashkenazi Jews: comparison with other Mediterraneans. Tissue Antigens 47:63–71
Monsalve MV, Edin G, Devine DV (1998) Analysis of HLA class I and class II in Na-Dene and Amerindian populations from British Columbia, Canada. Hum Immunol 59:48–55
Arnaiz-Villena A, Siles N, Moscoso J, Zamora J, Serrano-Vela JI, Gomez-Casado E et al (2005) Origin of Aymaras from Bolivia and their relationship with other Amerindians according to HLA genes. Tissue Antigens 65:379–390
Gomez-Casado E, Martinez-Laso J, Moscoso J, Zamora J, Martin-Villa M, Perez-Blas M et al (2003) Origin of Mayans according to HLA genes and the uniqueness of Amerindians. Tissue Antigens 61:425–436
Izaabel H, Garchon HJ, Caillat-Zucman S, Beaurain G, Akhayat O, Bach JF et al (1998) HLA class II DNA polymorphism in a Moroccan population from the Souss, Agadir area. Tissue Antigens 51:106–110
Arnaiz-Villena A, Moscoso J, Granados J, Serrano-Vela JI, de la Peña A, Reguera R et al (2007) HLA Genes in Mayos population from Northeast Mexico. Curr Genomics 8:466–475
Arnaiz-Villena A, Vargas-Alarcon G, Granados J, Gomez-Casado E, Longas J, Gonzales-Hevilla M et al (2000) HLA genes in Mexican Mazatecans, the peopling of the Americas and the uniqueness of Amerindians. Tissue Antigens 56:405–416
Titus-Trachtenberg EA, Rickards O, De Stefano GF, Erlich HA (1994) Analysis of HLA class II haplotypes in the Cayapa Indians of Ecuador: a novel DRB1 allele reveals evidence for convergent evolution and balancing selection at position 86. Am J Hum Genet 55:160–167
Petzl-Erler ML, Gorodezky C, Layrisse Z (1997) In: Charron D (ed) Anthropology report for the Latin-American Region: Amerindian and admixture populations, 1st edn. EDK, Paris, pp 337–345
Grahovac B, Sukernik RI, O’hUigin C, Zaleska-Rutczynska Z, Blagitko N, Raldugina O et al (1998) Polymorphism of the HLA class II loci in Siberian populations. Hum Genet 102:27–43
Arnaiz-Villena A, Martinez-Laso J, Moscoso J, Livshits G, Zamora J, Gomez-Casado E et al (2003) HLA genes in the Chuvashian population from European Russia: admixture of Central European and Mediterranean populations. Hum Biol 75:375–392
Gomez-Casado E, del Moral P, Martinez-Laso J, Garcia-Gomez A, Allende L, Silvera-Redondo C et al (2000) HLA genes in Arabic-speaking Moroccans: close relatedness to Berbers and Iberians. Tissue Antigens 55:239–249
Arnaiz-Villena A, Iliakis P, Gonzalez-Hevilla M, Longas J, Gomez-Casado E, Sfyridaki K et al (1999) The origin of Cretan populations as determined by characterization of HLA alleles. Tissue Antigens 53:213–226
Vargas-Alarcon G, Moscoso J, Martinez-Laso J, Rodriguez-Perez JM, Flores-Dominguez C, Serrano-Vela JI et al (2007) Origin of Mexican Nahuas (Aztecs) according to HLA genes and their relationships with worldwide populations. Mol Immunol 44:747–755
Martinez-Laso J, Siles N, Moscoso J, Zamora J, Serrano-Vela JI, Ira-Cachafeiro J et al (2006) Origin of Bolivian Quechua Amerindians: their relationship with other American Indians and Asians according to HLA genes. Eur J Med Genet 49:169–185
Kapustin S, Lyshchov A, Alexandrova J, Imyanitov E, Blinov M (1999) HLA class II molecular polymorphisms in healthy Slavic individuals from North-Western Russia. Tissue Antigens 54:517–520
Martinez-Laso J, de Juan D, Martinez-Quiles N, Gomez-Casado E, Cuadrado E, Arnaiz-Villena A (1995) The contribution of the HLA-A, -B, -C and -DR, -DQ DNA typing to the study of the origins of Spaniards and Basques. Tissue Antigens 45:237–245
Martinez-Laso J, Montoya F, Areces C, Moscoso J, Silvera C, Rey D et al (2011) HLA in Jaidukama: an Amerindian secluded Colombian population with new haplotypes and Asian and Pacific-shared alleles. Mol Biol Rep 38(6):3689–3701
Garcia-Ortiz JE, Sandoval-Ramirez L, Rangel-Villalobos H, Maldonado-Torres H, Cox S, Garcia-Sepulveda CA et al (2006) High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population. Tissue Antigens 68:135–146
Lazaro AM, Moraes ME, Marcos CY, Moraes JR, Fernandez-Vina MA, Stastny P (1999) Evolution of HLA-class I compared to HLA-class II polymorphism in Terena, a South-American Indian tribe. Hum Immunol 60:1138–1149
Martinez-Laso J, Sartakova M, Allende L, Konenkov V, Moscoso J, Silvera-Redondo C et al (2001) HLA molecular markers in Tuvinians: a population with both Oriental and Caucasoid characteristics. Ann Hum Genet 65:245–261
Munkhbat B, Sato T, Hagihara M, Sato K, Kimura A, Munkhtuvshin N et al (1997) Molecular analysis of HLA polymorphism in Khoton-Mongolians. Tissue Antigens 50:124–134
Arnaiz-Villena A, Gonzalez-Alcos V, Serrano-Vela JI, Reguera R, Barbolla L, Parga-Lozano C et al (2009) HLA genes in Uros from Titikaka Lake, Peru: origin and relationship with other Amerindians and worldwide populations. Int J Immunogenet 36:159–167
Leffell MS, Fallin MD, Hildebrand WH, Cavett JW, Iglehart BA, Zachary AA (2004) HLA alleles and haplotypes among the Lakota Sioux: report of the ASHI minority workshops, part III. Hum Immunol 65:78–89
Silvera C, Vargas-Alarcon G, Areces C, Rey D, Parga-Lozano C, Gomez-Prieto P et al (2011) HLA genes in Wayu Amerindians from Colombia. Immunol Invest 40:92–100
Moscoso J, Seclen S, Serrano-Vela JI, Villena A, Martinez-Laso J, Zamora J et al (2006) HLA genes in Lamas Peruvian-Amazonian Amerindians. Mol Immunol 43:1881–1889
Sanchez-Velasco P, Gomez-Casado E, Martinez-Laso J, Moscoso J, Zamora J, Lowy E et al (2003) HLA alleles in isolated populations from North Spain: Origin of the Basques and the ancient Iberians. Tissue Antigens 61:384–392
Arnaiz-Villena A, Reguera R, Ferri A, Barbolla L, Abd-El-Fatah-Khalil S, Bakhtiyarova N et al (2009) The peopling of Madeira Archipelago (Portugal) according to HLA genes. Int J Immunogenet 36:9–14
Arnaiz-Villena A, Reguera R, Parga-Lozano C, Abd-El-Fatah S, Monleon L, Barbolla L et al (2009) HLA genes in Afro-American Colombians (San Basilio de Palenque): The First Free Africans in America. Open Immunol J 2:59–66
Longas J, Martinez-Laso J, Rey D, Areces C, Casado EG, Parga-Lozano C et al (2012) Las Alpujarras region (South East Spain) HLA genes study: evidence of a probable success of 17th century repopulation from North Spain. Mol Biol Rep 39:1387–1394
Gonzalez-Galarza FF, Christmas S, Middleton D, Jones AR (2011) Allele frequency net: a database and online repository for immune gene frequencies in worldwide populations. Nucleic Acids Res 39:D913–D919
Vargas-Alarcon G, Hernandez-Pacheco G, Moscoso J, Perez-Hernandez N, Murguia LE, Moreno A et al (2006) HLA genes in Mexican Teeneks: HLA genetic relationship with other worldwide populations. Mol Immunol 43:790–799
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This work was supported in part by grants from the Spanish Ministry of Health (FISS PI080838 and PI11/00807) and three different Mutua Madrileña Automovilista grants.
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Diego Rey and Carlos Parga-Lozano contributed equally for this study and the order of authorship is arbitrary.
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Rey, D., Parga-Lozano, C., Moscoso, J. et al. HLA genetic profile of Mapuche (Araucanian) Amerindians from Chile. Mol Biol Rep 40, 4257–4267 (2013). https://doi.org/10.1007/s11033-013-2509-3
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DOI: https://doi.org/10.1007/s11033-013-2509-3