Article

European Journal of Human Genetics (2016) 24, 937–943; doi:10.1038/ejhg.2015.201; published online 16 September 2015

Origins, admixture and founder lineages in European Roma

Begoña Martínez-Cruz1,15,16, Isabel Mendizabal1,15,17, Christine Harmant2,3, Rosario de Pablo4, Mihai Ioana5,6, Dora Angelicheva7, Anastasia Kouvatsi8, Halyna Makukh9, Mihai G Netea10, Horolma Pamjav11, Andrea Zalán11, Ivailo Tournev12,13, Elena Marushiakova14, Vesselin Popov14, Jaume Bertranpetit1, Luba Kalaydjieva7, Lluis Quintana-Murci2,3 and David Comas1 and the Genographic Consortium18

  1. 1Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain
  2. 2Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France
  3. 3CNRS URA3012, Paris, France
  4. 4Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid, Spain
  5. 5University of Medicine and Pharmacy Craiova, Craiova, Romania
  6. 6University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
  7. 7Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia
  8. 8Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece
  9. 9Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine
  10. 10Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
  11. 11Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary
  12. 12Department of Neurology, Medical University-Sofia, Sofia, Bulgaria
  13. 13Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria
  14. 14Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria

Correspondence: Dr D Comas, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain. Tel: +34 93 316 0843; Fax: +34 93 316 0901; E-mail: david.comas@upf.edu

15These authors contributed equally to this work.

16Current address: Department of Integrative Ecology, Estación Biológica de Doñana (CSIC), C/Américo Vespucio s/n, 41092 Sevilla, Spain.

17Current address: School of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta, GA 30332, USA, and Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Barrio Sarriena s/n, 48940 Leioa, Spain.

18Members of the Genographic Consortium are listed alphabetically before References.

Received 2 February 2015; Revised 20 July 2015; Accepted 11 August 2015
Advance online publication 16 September 2015

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Abstract

The Roma, also known as ‘Gypsies’, represent the largest and the most widespread ethnic minority of Europe. There is increasing evidence, based on linguistic, anthropological and genetic data, to suggest that they originated from the Indian subcontinent, with subsequent bottlenecks and undetermined gene flow from/to hosting populations during their diaspora. Further support comes from the presence of Indian uniparentally inherited lineages, such as mitochondrial DNA M and Y-chromosome H haplogroups, in a significant number of Roma individuals. However, the limited resolution of most genetic studies so far, together with the restriction of the samples used, have prevented the detection of other non-Indian founder lineages that might have been present in the proto-Roma population. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.