Roma (Gypsies): Genetic Studies


The Roma, also known as Gypsies, are a transnational founder population, resembling a mosaic of socially and genetically divergent groups. Common origins from a small group of related founders result in sharing of maternal and paternal lineages and of ancient disease‐causing mutations across endogamous Romani groups in different countries. Genetic differentiation between groups, with an impact on genetic epidemiology, is the product of bottleneck events, random genetic drift and differential admixture and correlates with the migrational history of the Roma in Europe. Genetic studies are concordant with linguistic data, which provide support for the Indian origins of the Gypsies and suggest a single founding population that originated in north/northwestern India.

Key Concepts:

  • The Roma/Gypsies are a European population of Asian descent (most likely from the north‐western part of the Indian subcontinent), with origins documented by the presence of Indian maternal, paternal and autosomal lineages in parallel with admixture from autochthonous Europeans.

  • The genetic history of the Roma is a string of bottleneck events starting with the founding of the proto‐Roma by a small group of Asian ancestors and followed by more recent population fissions reflecting the early migrations within Europe and the splits into multiple endogamous groups.

  • The current genetic profile of the Roma has been shaped by founder effects, genetic drift and differential admixture. The social organisation, similar to the jatis of India, with limited gene flow between Romani groups, has resulted in marked genetic substructure.

  • Autosomal recessive disorders occur at relatively high frequency and are usually characterised by limited mutational heterogeneity. They include disorders caused by mutations ‘imported’ from surrounding populations, which may reach high frequencies due to founder effect and drift as well as ‘private’ population‐specific mutations leading to novel rare disorders.

  • The socially defined Romani group is the basic unit and starting point for medical genetic research due to limited diversity and common sharing of founder disease‐causing mutations between apparently unrelated families.

Keywords: Roma (gypsies); founder populations; origins; genetic structure; single‐gene disorders

Figure 1.

(a) Distribution of Y‐chromosome haplogroups in 569 male Roma from different endogamous groups. The haplogroups are defined by unique event polymorphisms as described by Underhill et al.. The geographic association of haplogroups in the ‘Unknown’ category is not clear. The number of haplotypes (hts; defined by the alleles of seven short tandem repeat (STR) loci) along each haplogroup is given next to the haplogroup. The figures in brackets refer to the frequency of the most common STR haplotype within that haplogroup. (b) Distribution of mtDNA haplogroups in 763 Roma from different endogamous groups. The haplogroups are defined by restriction fragment length polymorphisms in the mtDNA. The number of different hypervariable segment 1 (HVS1) sequences (seqs) within each haplogroup is given next to the haplogroup. The figure in brackets refers to the frequency of the most common HVS1 sequence variant within that haplogroup. The category labelled ‘Other’ consists of haplogroups K, N, T, U1, U5, U(K) and W.

Figure 2.

Distribution of geographically localised Y‐chromosome and mtDNA haplogroups in different endogamous Roma groups from Bulgaria, Hungary, Lithuania and Spain. Colour coding: Asian Y‐chromosome haplogroups – red; Asian mtDNA haplogroups – green; European Y‐chromosome haplogroups – yellow and Eurasian mtDNA haplogroups – blue.

Figure 3.

Carrier rates of five founder mutations (R148X in NDRG1, P28 T in GK1, 1267delG in CHRNE, C283Y in SGCG and IVS6+389C→T in CCFDN) among 785 Roma from different endogamous groups from Bulgaria, Hungary, Lithuania and Spain. These mutations are responsible for the autosomal recessive disorders hereditary motor and sensory neuropathy type Lom (HMSNL), galactokinase deficiency (Galk), congenital myasthenia (CMS), limb‐girdle muscular dystrophy 2C (LGMD) and congenital cataracts facial dysmorphism neuropathy (CCFDN), respectively.



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Further Reading

Fraser A (1992) The Gypsies. Oxford: Blackwell Publishers.

Hancock I (1987) The Pariah Syndrome. Ann Arbor: Karoma Publishers Inc.

Liégeois J‐P (1994) Roma, Gypsies, Travellers. Strasbourg: Council of Europe Press.

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Morar, Bharti, Azmanov, Dimitar N, and Kalaydjieva, Luba(Apr 2013) Roma (Gypsies): Genetic Studies. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0006239.pub3]