Ena Giacomo Francesco, Giménez Aaron, Carballo-Mesa Annabel, Lišková Petra, Araújo Castro E Silva Marcos, Comas David
Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Departament de Medicina i Ciències de la Vida, Barcelona, Spain.
Facultat de Sociologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
Hum Genet. 2025 Apr;144(4):463-479. doi: 10.1007/s00439-025-02735-z. Epub 2025 Mar 17.
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.
罗姆人的人口统计学历史复杂，其近代从南亚起源地扩散至欧洲，期间伴随着持续的人口瓶颈和基因流动。大约1000年前在巴尔干半岛定居后，罗姆人逐渐散布到欧洲各地，约500年前，他们在伊比利亚半岛建立起如今西欧最大的罗姆人群体之一。我们专门聚焦伊比利亚罗姆人，进行了迄今为止对欧洲罗姆人群体最全面的全基因组分析。我们运用基于等位基因频率和单倍型的方法，分析了181个人，以在大陆和本地尺度上研究他们的遗传多样性、社会动态及迁徙历史。我们的研究结果表明，罗姆人在扩散过程中与所遇到的人群存在显著的基因流动，并证实了他们的南亚起源。我们发现，在14世纪至19世纪期间，罗姆人从巴尔干半岛分多波向西扩散，有多次混合事件。此外，我们的研究结果驳斥了先前关于北非扩散路线进入伊比利亚以及与犹太人群体存在遗传联系的假说。与非罗姆伊比利亚人相比，伊比利亚罗姆人的遗传分化程度高出十倍，表明存在显著的区域亚结构。此外，我们提供了罗姆人群体内选型交配的首个遗传证据，突出了独特的交配模式，并表明正逐渐向与非罗姆个体增加融合的方向转变。这项研究显著增进了我们对人口统计学历史和复杂遗传结构如何塑造罗姆人群体遗传多样性的理解，同时也突显了其不断演变的社会动态的影响。
