The Roma people have a complex demographic history shaped by their recent dispersal from a South Asian origin into Europe, accompanied by continuous population bottlenecks and gene flow. After settling in the Balkans around 1,000 years ago, the Roma gradually dispersed across Europe, and approximately 500 years ago, they established in the Iberian Peninsula what is now one of the largest Roma populations in Western Europe. Focusing specifically on the Iberian Roma, we conducted the most comprehensive genome-wide analysis of European Roma populations to date. Using allele frequency and haplotype-based methods, we analysed 181 individuals to investigate their genetic diversity, social dynamics, and migration histories at both continental and local scales. Our findings demonstrate significant gene flow from populations encountered during the Roma's dispersal and confirm their South Asian origins. We show that, between the 14th and 19th centuries, the Roma spread westward from the Balkans in various waves, with multiple admixture events. Furthermore, our findings refute previous hypotheses of a North African dispersal route into Iberia and genetic connections to Jewish populations. The Iberian Roma exhibit ten times greater genetic differentiation compared to non-Roma Iberians, indicating significant regional substructure. Additionally, we provide the first genetic evidence of assortative mating within Roma groups, highlighting distinct mating patterns and suggesting a gradual shift towards increased integration with non-Roma individuals. This study significantly enhances our understanding of how demographic history and complex genetic structure have shaped the genetic diversity of Roma populations, while also highlighting the influence of their evolving social dynamics.

Department of Ophthalmology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Facultat de Geografia i Història Universitat de Barcelona Barcelona Spain

Facultat de Sociologia Universitat Autònoma de Barcelona Barcelona Spain

Institut de Biologia Evolutiva Universitat Pompeu Fabra Departament de Medicina i Ciències de la Vida Barcelona Spain

See more in PubMed

Abreu L (2007) Beggars, vagrants and romanies: repression and persecution in Portuguese society (14th–18th Centuries). Hygiea 6:41–66. 10.3384/hygiea.1403-8668.076141

Achim V (2004) The Roma in Romanian history. Central European University

Aizpurua-Iraola J, Giménez A, Carballo-Mesa A et al (2022) Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks. Sci Rep 12:18720. 10.1038/s41598-022-23349-9 PubMed PMC

Alexander DH, Lange K (2011) Enhancements to the ADMIXTURE algorithm for individual ancestry Estimation. BMC Bioinformatics 12:246. 10.1186/1471-2105-12-246 PubMed PMC

Aparicio Gervás JM (2006) Breve recopilación sobre La historia Del Pueblo Gitano: desde Su Salida Del Punjab, Hasta La constitución Española de 1978. Veinte Hitos sobre La Otra historia de España. RIFOP: revista interuniversitaria de Formación Del Profesorado: continuación de La Antigua. Revista De Escuelas Normales 141–162

Auton A, Abecasis GR, Altshuler DM et al (2015) A global reference for human genetic variation. Nat 2015 526:7571. 10.1038/nature15393 PubMed PMC

Baharian S, Barakatt M, Gignoux CR et al (2016) The great migration and African-American genomic diversity. PLoS Genet 12:e1006059. 10.1371/journal.pgen.1006059 PubMed PMC

Bánfai Z, Melegh BI, Sümegi K et al (2019) Revealing the genetic impact of the Ottoman occupation on ethnic groups of East-Central Europe and on the Roma population of the area. Front Genet 10:558 PubMed PMC

Behr AA, Liu KZ, Liu-Fang G et al (2016) Pong: fast analysis and visualization of latent clusters in population genetic data. Bioinformatics 32:2817–2823. 10.1093/bioinformatics/btw327 PubMed PMC

Bernát A, Messing V (2016) Methodological and data infrastructure report on Roma population in the EU. In:GRID

Bianco E, Laval G, Font-Porterias N et al (2020) Recent Common Origin, Reduced Population Size, and Marked Admixture Have Shaped European Roma Genomes. Molecular Biology and Evolution. 10.1093/molbev/msaa156 PubMed

Bover O, Velilla P (1999) Migration in Spain. Historical Background and Current Trends

Brearley M (2001) The persecution of Gypsies in Europe. Am Behav Sci 45:588–599. 10.1177/00027640121957367

Browning SR, Browning BL (2015) Accurate Non-parametric Estimation of recent effective population size from segments of identity by descent. Am J Hum Genet 97:404–418. 10.1016/j.ajhg.2015.07.012 PubMed PMC

Browning SR, Browning BL, Daviglus ML et al (2018) Ancestry-specific recent effective population size in the Americas. PLoS Genet 14:e1007385. 10.1371/journal.pgen.1007385 PubMed PMC

Browning BL, Tian X, Zhou Y, Browning SR (2021) Fast two-stage phasing of large-scale sequence data. Am J Hum Genet 108:1880–1890. 10.1016/j.ajhg.2021.08.005 PubMed PMC

Campbell CL, Palamara PF, Dubrovsky M et al (2012) North African Jewish and non-Jewish populations form distinctive, orthogonal clusters. Proceedings of the National Academy of Sciences 109:13865–13870. 10.1073/pnas.1204840109 PubMed PMC

Carr M (2017) Blood and faith: the purging of Muslim Spain. Oxford University Press, pp 1492–1614

Castro e Silva MA, Ferraz T, Couto-Silva CM et al (2022) Population histories and genomic diversity of South American natives. Mol Biol Evol 39:msab339. 10.1093/molbev/msab339 PubMed PMC

Ceballos FC, Joshi PK, Clark DW et al (2018) Runs of homozygosity: windows into population history and trait architecture. Nat Rev Genet 19:220–234. 10.1038/nrg.2017.109 PubMed

Çelik F (2004) Exploring marginality in the Ottoman Empire: Gypsies or People of Malice (Ehl-i Fesad) as viewed by the Ottomans. EUI WORKING PAPERS:RSCAS No. 2004/39

Chang CC, Chow CC, Tellier LC et al (2015) Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience 4:s13742-015-0047–8. 10.1186/s13742-015-0047-8 PubMed PMC

Crowe DM (2006) From persecution to pragmatism: the Habsburg Roma in the eighteenth century. Austrian History Yearbook 37:99–120

Crowe D (2016) The Gypsy historical experience in Romania. The Gypsies of Eastern Europe. Routledge, pp 61–79

Crowe D, Kolsti J, Hancock I (2016) The Gypsies of Eastern Europe. Routledge

Danecek P, Auton A, Abecasis G et al (2011) The variant call format and vcftools. Bioinformatics 27:2156–2158. 10.1093/bioinformatics/btr330 PubMed PMC

Delaneau O, Zagury J-F, Marchini J (2013) Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods 10:5–6. 10.1038/nmeth.2307 PubMed

der Auwera GAV, Carneiro MO, Hartl C et al (2013) From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protocols Bioinf 43. 10.1002/0471250953.bi1110s43 PubMed PMC

Drummond S (2011) Mapping marriage law in Spanish Gitano communities. UBC

Ena GF, Aizpurua-Iraola J, Font-Porterias N et al (2022) Population genetics of the European Roma—A. Rev Genes 13:2068. 10.3390/genes13112068 PubMed PMC

Font-Porterias N, Arauna LR, Poveda A et al (2019) European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin. PLoS Genet 15:e1008417. 10.1371/journal.pgen.1008417 PubMed PMC

Font-Porterias N, Giménez A, Carballo-Mesa A et al (2021) Admixture has shaped Romani genetic diversity in clinically relevant variants. Front Genet 12:683880. 10.3389/fgene.2021.683880 PubMed PMC

Fraser AM (1992) The Gypsies (The peoples of Europe). Blackwell Pub

Galili T, O’Callaghan A, Sidi J, Sievert C (2018) Heatmaply: an R package for creating interactive cluster heatmaps for online publishing. Bioinformatics 34:1600–1602. 10.1093/bioinformatics/btx657 PubMed PMC

Gamella JF, Álvarez-Roldán A (2023) Breaking secular endogamy. The growth of intermarriage among the Gitanos/Calé of Spain (1900–2006). History Family 28:457–483

García-Fernández C, Font-Porterias N, Kučinskas V et al (2020) Sex-biased patterns shaped the genetic history of Roma. Sci Rep 10:14464. 10.1038/s41598-020-71066-y PubMed PMC

General Assembly of the World Medical Association (2014) World medical association declaration of Helsinki: ethical principles for medical research involving human subjects. J Am Coll Dent 81:14–18 PubMed

Gheorghe N (1983) The origin of Roma’s slavery in the Romanian principalities. Roma 7:12–27

Gibbs RA, Belmont JW, Hardenbol P et al (2003) The international HapMap project. Nature. 10.1038/nature02168

Giménez A, Comas D, Carballo A (2019) Origen e identidad del Pueblo Gitano. Int J Roma Stud 1:159–184 10.17583/ijrs.2019.4561

Gómez-Carballa A, Pardo-Seco J, Fachal L et al (2013) Indian signatures in the Westernmost edge of the European Romani diaspora: new insight from mitogenomes. PLoS ONE 8:e75397. 10.1371/journal.pone.0075397 PubMed PMC

Greenberg J (2010) Report on Roma education today: from slavery to segregation and beyond. Colum L Rev 110:919–1001

Gusmão A, Gusmão L, Gomes V et al (2008) A perspective on the history of the Iberian Gypsies provided by phylogeographic analysis of Y-Chromosome lineages. Ann Hum Genet 72:215–227. 10.1111/j.1469-1809.2007.00421.x PubMed

Halwachs D (2005) Roma and Romani in Austria. Romani Stud 15:145–173

Han E, Carbonetto P, Curtis RE et al (2017) Clustering of 770,000 genomes reveals post-colonial population structure of North America. Nat Commun 8:14238 PubMed PMC

Hancock I (2006) On Romani origins and identity. The Romani Archives and Documentation Center, Aralık

Harris DN, Song W, Shetty AC et al (2018) Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire. Proceedings of the National Academy of Sciences 115:E6526–E6535. 10.1073/pnas.1720798115 PubMed PMC

Hellenthal G, Busby GBJ, Band G et al (2014) A genetic atlas of human admixture history. Science 343:747–751. 10.1126/science.1243518 PubMed PMC

Henn BM, Botigué LR, Gravel S et al (2012) Genomic ancestry of North Africans supports Back-to-Africa migrations. PLoS Genet 8:e1002397. 10.1371/journal.pgen.1002397 PubMed PMC

Iovita RP, Schurr TG (2004) Reconstructing the origins and migrations of diasporic populations: the case of the European Gypsies. Am Anthropol 106(2):267–281

Ivanov A, Kagin J (2014) Roma poverty from a human development perspective. Istanbul, Turkey, UNDP, p 96

Kajanova A, Kmecova I (2018) Development of unemployment of the Roma minority in selected European countries. Cswhi 9:59–64. 10.22359/Cswhi_9_4_08

Kalaydjieva L, Gresham D, Calafell F (2001) Genetic studies of the Roma (Gypsies): a review. BMC Med Genet 2:5. 10.1186/1471-2350-2-5 PubMed PMC

Kamvar ZN, Tabima JF, Grünwald NJ (2014) Poppr: an R package for genetic analysis of populations with clonal, partially clonal, and/or sexual reproduction. PeerJ 2:e281. 10.7717/peerj.281 PubMed PMC

Katharine M, Mullen, Ivo HM, van Stokkum (2012) The Lawson-Hanson algorithm for non-negative least squares (NNLS). https://citeseerx.ist.psu.edu/document?repid=rep1%26type=pdf%26doi=b84fcc0feb78f074edad012273847ce8fa5361ce. Accessed 1 Jul 2024

Kenrick D (2007) Historical dictionary of the Gypsies (Romanies). Scarecrow

Kenrick D, Puxon G (2009) Gypsies under the swastika. University of Hertfordshire

Kimmel S (2015) Parables of coercion: conversion and knowledge at the end of Islamic Spain. University of Chicago Press

Klamper E (1993) Persecution and annihilation of Roma and Sinti in Austria, 1938–1945. Romani Stud 3:55

Korunes K, KL, Soares-Souza GB, Bobrek et al (2022) Sex-biased admixture and assortative mating shape genetic variation and influence demographic inference in admixed Cabo Verdeans. G3 Genes|Genomes|Genetics 12:jkac183. 10.1093/g3journal/jkac183 PubMed PMC

La Parra-Casado D, Mosquera PA, Vives-Cases C, San Sebastian M (2018) Socioeconomic inequalities in the use of healthcare services: comparison between the Roma and general populations in Spain. Int J Environ Res Public Health 15:121 PubMed PMC

Laparra M (2007) Informe sobre La situación social y tendencias de Cambio En La Población gitana. Ministerio de Trabajo y Asuntos Sociales, Una primera aproximación Madrid

Laparra M, Arza J, Fernández A (2007) Diagnóstico social de La Comunidad gitana En España, vol 2011. Un análisis contrastado de la Encuesta del CIS a Hogares de Población Gitana

Lawson DJ, Hellenthal G, Myers S, Falush D (2012) Inference of population structure using dense haplotype data. PLoS Genet 8:e1002453. 10.1371/journal.pgen.1002453 PubMed PMC

Lazaridis I, Patterson N, Mittnik A et al (2014) Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature 513:409–413. 10.1038/nature13673 PubMed PMC

Leblon B (1985) Les Gitans d’Espagne: Le prix de la différence. FeniXX

Lewy G (2000) The Nazi persecution of the Gypsies. Oxford University Press

Li H (2013) Aligning sequence Reads, clone. sequences and assembly contigs with BWA-MEM

Lucas-Sánchez M, Fadhlaoui-Zid K, Comas D (2023) The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates. Hum Genet 142:305–320. 10.1007/s00439-022-02503-3 PubMed PMC

Maier R, Flegontov P, Flegontova O et al (2023) On the limits of fitting complex models of population history to f-statistics. eLife 12:e85492. 10.7554/eLife.85492 PubMed PMC

Maples BK, Gravel S, Kenny EE, Bustamante CD (2013) RFMix: A discriminative modeling approach for rapid and robust Local-Ancestry inference. Am J Hum Genet 93:278–288. 10.1016/j.ajhg.2013.06.020 PubMed PMC

Martínez Dhier A (2007) La condición social y jurídica de los gitanos en la legislación histórica española.(A partir de la pragmática de los Reyes Católicos de 1499). Doctoral thesis, Universidad de Granada

Martínez-Cruz B, Mendizabal I, Harmant C et al (2016) Origins, admixture and founder lineages in European Roma. Eur J Hum Genet 24:937–943. 10.1038/ejhg.2015.201 PubMed PMC

Marushiakova E, Popov V (2001) Gypsies in the Ottoman empire: A contribution to the history of the Balkans, vol 22. University of Hertfordshire

Marushiakova E, Popov V (2010) Gypsy/Roma European migrations from 15th century till nowadays. In: Proceedings of International Conference Romani Mobilities in Europe: Multidisciplinary Perspectives. pp 126–139

Marushiakova-Popova EA, Popov V (2018) Migration vs. inclusion: Roma mobilities from East to West. Baltic Worlds

Matras Y (2002) Romani A linguistic introduction. Cambridge University Press

McKenna A, Hanna M, Banks E et al (2010) The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297. 10.1101/GR.107524.110 PubMed PMC

Mendes MM, Magano O (2022) Roma/Ciganos and the condition of internal strange in Portuguese society: the construction of otherness. In: Simmel and beyond. Routledge

Mendizabal I, Valente C, Gusmão A et al (2011) Reconstructing the Indian origin and dispersal of the European Roma: A maternal genetic perspective. PLoS ONE 6:1–10. 10.1371/journal.pone.0015988 PubMed PMC

Mendizabal I, Lao O, Marigorta UM et al (2012) Report reconstructing the population history of European Romani from Genome-wide data. Curr Biol 22:2342–2349. 10.1016/j.cub.2012.10.039 PubMed

Moorjani P, Patterson N, Loh P-R et al (2013) Reconstructing Roma history from Genome-Wide data. 10.1371/journal.pone.0058633. PLOS One 8: PubMed PMC

O’Nions H (2011) Roma expulsions and discrimination: the elephant in Brussels. Eur J Migration Law 13:361–388. 10.1163/157181611X605864

O’Nions H (2016) Minority rights protection in international law: the Roma of Europe. Routledge, London

Ortega MHS (1994) Los Gitanos Españoles desde Su Salida de La India Hasta Los Primeros conflictos En La Península. Espacio Tiempo y Forma Serie IV, Historia Moderna

Pamjav H, Zalán A, Béres J et al (2011) Genetic structure of the paternal lineage of the Roma people. Am J Phys Anthropol 145:21–29. 10.1002/ajpa.21454 PubMed

Parekh N, Rose T (2011) Health inequalities of the Roma in Europe: a literature review. Cent Eur J Public Health 19:139–142. 10.21101/cejph.a3661 PubMed

Patterson N, Price AL, Reich D (2006) Population structure and eigenanalysis. PLoS Genet 2:e190. 10.1371/journal.pgen.0020190 PubMed PMC

Patterson N, Moorjani P, Luo Y et al (2012) Ancient admixture in human history. Genetics 192(3):1065–1093. 10.1534/genetics.112.145037 PubMed PMC

Pereira V, Gusmão L, Valente C et al (2012) Refining the genetic portrait of Portuguese Roma through X-chromosomal markers. Am J Phys Anthropol 148:389–394. 10.1002/ajpa.22061 PubMed

Pérez J, Hochroth L (2007) History of a tragedy: the expulsion of the Jews from Spain. University of Illinois Press

Picard toolkit (2019) Picard toolkit. Broad Institute, GitHub repository

Pickrell JK, Patterson N, Loh P-R et al (2014) Ancient West Eurasian ancestry in Southern and Eastern Africa. Proc Natl Acad Sci 111:2632–2637. 10.1073/pnas.1313787111 PubMed PMC

Pohoryles Y (2018) The Jewish-Romani connection: Are Gypsies descendants of tribe of Simeon? Ynetnews. Retrieved from https://www.ynetnews.com/articles/0,7340,L-5248902,00.html

Price AL, Patterson NJ, Plenge RM et al (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904–909. 10.1038/ng1847 PubMed

Pym R (2007) The Gypsies of early modern Spain. Springer

Rai N, Chaubey G, Tamang R et al (2012) The phylogeography of Y-Chromosome haplogroup H1a1a-M82 reveals the likely Indian origin of the European Romani populations. PLoS ONE 7:e48477. 10.1371/journal.pone.0048477 PubMed PMC

Reich D, Thangaraj K, Patterson N et al (2009) Reconstructing Indian population history. Nature 461:489–494. 10.1038/nature08365 PubMed PMC

Sánchez DM (2022) Historia Del Pueblo Gitano En España. Los Libros De La Catarata

Severson AL, Carmi S, Rosenberg NA (2019) The effect of consanguinity on Between-Individual Identity-by-Descent sharing. Genetics 212:305–316. 10.1534/genetics.119.302136 PubMed PMC

Silvestre J (2005) Internal migrations in Spain, 1877–1930. Eur Rev Econ Hist 9:233–265. 10.1017/S1361491605001462

Soyer F (2007) The Persecution of the Jews and Muslims of Portugal: King Manuel I and the End of Religious Tolerance (1496-7). BRILL

Tarnovschi D, Preoteasa AM, Pamporov A et al (2012) Roma from Romania, Bulgaria, Italy and Spain between social inclusion and migration. Soros Foundation Romania, Bucharest

Tartakoff P (2012) Between Christian and Jew: conversion and inquisition in the crown of Aragon. University of Pennsylvania, pp 1250–1391

Universitat Pompeu Fabra (2023) Presentació del projecte El camí del Poble Gitano: una història de diversitat. Available: https://www.youtube.com/watch?v=JRP9So3bnwc

Vilà-Valls L, Aizpurua-Iraola J, Casinge S et al (2023) Genomic insights into the population history of the Resande or Swedish travelers. Genome Biol Evol 15:evad006. 10.1093/gbe/evad006 PubMed PMC

Waldman YY, Biddanda A, Dubrovsky M et al (2016) The genetic history of Cochin Jews from India. Hum Genet 135:1127–1143. 10.1007/s00439-016-1698-y PubMed PMC

Wangkumhang P, Greenfield M, Hellenthal G (2022) An efficient method to identify, date, and describe admixture events using haplotype information. Genome Res 32:1553–1564. 10.1101/gr.275994.121 PubMed PMC

Weyrauch WO (2001) Gypsy law: Romani legal traditions and culture. University of California Press

Zahra T (2017) Condemned to rootlessness and unable to Budge: Roma, migration panics, and internment in the Habsburg empire. Am Hist Rev 122:702–726

Zhou Y, Browning SR, Browning BL (2020) A fast and simple method for detecting Identity-by-Descent segments in Large-Scale data. Am J Hum Genet 106:426–437. 10.1016/j.ajhg.2020.02.010 PubMed PMC

Zou JY, Halperin E, Burchard E, Sankararaman S (2015a) Inferring parental genomic ancestries using pooled semi-Markov processes. Bioinformatics 31:i190–i196. 10.1093/bioinformatics/btv239 PubMed PMC

Zou JY, Park DS, Burchard EG et al (2015b) Genetic and socioeconomic study of mate choice in Latinos reveals novel assortment patterns. Proceedings of the National Academy of Sciences 112:13621–13626. 10.1073/pnas.1501741112 PubMed PMC