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 (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 (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 (HMSNL), (Galk), (CMS), (LGMD) and congenital cataracts facial dysmorphism neuropathy (CCFDN), respectively.



Ali M, McKibbin M, Booth A et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma. American Journal of Human Genetics 84(5): 664–671.

Alvarez A, del Castillo I, Villamar M et al. (2005) High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss. American Journal of Medical Genetics A 137A(3): 255–258.

Angelicheva D, Calafell F, Savov A et al. (1997) Cystic fibrosis mutations and associate haplotypes in Bulgaria – a comparative population genetic study. Human Genetics 99(4): 513–520.

Azmanov DN, Chamova T, Tankard R et al. (in press) Challenges of diagnostic exome sequencing in an inbred founder population. Molecular Genetics and Genomic Medicine [Epub ahead of print].

Azmanov DN, Dimitrova S, Florez L et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. European Journal of Human Genetics 19(3): 326–333.

Azmanov DN, Zhelyazkova S, Dimova P et al. (2010) Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Epileptic Disorders 12(2): 117–124.

Baránková L, Sisková D, Hühne K et al. (2008) A 71‐nucleotide deletion in the periaxin gene in a Romani patient with early onset slowly progressive demyelinating CMT. European Journal of Neurology 15(6): 548–551.

Barca‐Tierno V, Aza‐Carmona M, Barroso E et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Leri–Weill dyschondrosteosis and Langer mesomelic dysplasia. European Journal of Human Genetics 19(12): 1218–1225.

Beltrán‐Valero de Bernabé D, Currier S, Steinbrecher A et al. (2002) Mutations in the O‐mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker‐Warburg syndrome. American Journal of Human Genetics 71(5): 1033–1043.

Bouwer ST, Angelicheva D, Chandler D et al. (2007a) Carrier rates of the ancestral Indian mutation in GJB2 in the general Gypsy population and individual subisolates. Genetic Testing 11(4): 455–458.

Bouwer ST, Coto E, Santos F et al. (2007b) The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe. Kidney International 72(7): 898.

Callén E, Casado JA, Tischkowitz MD et al. (2005) A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 105(5): 1946–1949.

Carpenter S, Soares H, Brandão O et al. (2012) A novel type of familial proximal axonal dystrophy: three cases and a review of the axonal dystrophies. European Journal of Paediatric Neurology 16(3): 292–300.

Casaňa P, Martínez F, Haya S et al. (2000) Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. British Journal of Haematology 111(2): 552–555.

Chaix R, Austerlitz F, Morar B, Kalaydjieva L and Heyer E (2004) Vlax Roma history: what do coalescent‐based methods tell us? European Journal of Human Genetics 12(4): 285–292.

Chamova T, Florez L, Guergueltcheva V et al. (2012) ANO10 c.1150_1151 del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. Journal of Neurology 259(5): 906–911.

Coto E, Rodriguez J, Jeck N et al. (2004) A new mutation (intron 9+1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney International 65(1): 25–29.

Diez O, Domenech M, Alonso MC et al. (1998) Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Human Genetics 103(6): 707–708.

Fiore M, Pillois X, Nurden P, Nurden AT and Austerlitz F (2011) Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. European Journal of Human Genetics 19(9): 981–987.

Gooding R, Colomer J, King R et al. (2005) A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. Journal of Medical Genetics 42(12): e69.

Gresham D, Morar B, Underhill PA et al. (2001) Origins and divergence of the Roma (Gypsies). American Journal of Human Genetics 69(6): 1314–1331.

Guergueltcheva V, Azmanov DN, Angelicheva D et al. (2012) Autosomal‐recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. American Journal of Human Genetics 91(3): 553–564.

Gusmao A, Gusmao L, Gomes V et al. (2008) A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y‐chromosome lineages. Annals of Human Genetics 72(Pt 2): 215–227.

Gusmao A, Valente C, Gomes V et al. (2010) A genetic historical sketch of European Gypsies: the perspective from autosomal markers. American Journal of Physical Anthropology 141(4): 507–514.

Hantke J, Chandler D, King R et al. (2009) A mutation in an alternative untranslated exon of hexokinase 1 is associated with hereditary motor and sensory neuropathy – Russe (HMSNR). European Journal of Human Genetics 17(12): 1606–1614.

Hunter M, Heyer E, Austerlitz F et al. (2002) The P28 T mutations in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatric Research 51(5): 602–606.

Irwin J, Egyed B, Saunier J et al. (2007) Hungarian mtDNA population databases from Budapest and the Baranya county Roma. International Journal of Legal Medicine 121(5): 377–383.

Kalaydjieva L, Calafell F, Jobling MA et al. (2001b) Patterns of inter‐ and intra‐group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. European Journal of Human Genetics 9(2): 97–104.

Kalaydjieva L, Gresham D and Calafell F (2001a) Genetic studies of the Roma (Gypsies): a review. BMC Medical Genetics 2: 5–18.

Kalaydjieva L, Gresham D, Gooding R et al. (2000) N‐myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy – Lom. American Journal of Human Genetics 67(1): 47–58.

Kalaydjieva L, Morar B, Chaix R and Tang H (2005) A newly discovered founder population: the Roma/Gypsies. BioEssays 27(10): 1084–1094.

Kalaydjieva L, Perez‐Lezaun A, Angelicheva D et al. (1999) A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). American Journal of Human Genetics 65(5): 1299–1307.

Klarić IM, Salihović MP, Lauc LB et al. (2009) Dissecting the molecular architecture and origin of Bayash Romani patrilineages: genetic influences from South‐Asia and the Balkans. American Journal of Physical Anthropology 138(3): 333–342.

Kovács N, Sárkány I, Mohay G et al. (2006) High incidence of short rib‐polydactyly syndrome type IV in a Hungarian Roma subpopulation. American Journal of Medical Genetics Part A 140A(24): 2816–2818.

Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J and Miåcicka‐Sliwka D (2006) Mitochondrial DNA diversity in the Polish Roma. Annals of Human Genetics 70(Pt2): 195–206.

Mancebo E, Bernardo I, Castro MJ et al. (2007) Rapid molecular prenatal diagnosis of ataxia‐telangiectasia by direct mutational analysis. Prenatal Diagnosis 27(9): 861–864.

Mancebo E, Moreno‐Pelayo MA, Mencia A et al. (2008) Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. Molecular Immunology 45(2): 479–484.

Martinez G, Garcia‐Lozano JR, Ribes A et al. (1998) High risk of medium chain acyl coenzyme A dehydrogenase deficiency among gypsies. Pediatric Research 44(1): 83–84.

Melegh B, Bene J, Megyorosy G et al. (2004) Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine‐responsive cardiomyopathy in Roma families. American Journal of Medical Genetics A 131A(2): 121–126.

Mendizabal I, Lao O, Marigorta UM et al. (2012) Reconstructing the population history of European Romani from genome‐wide data. Current Biology 22(24): 2342–2349.

Mendizabal I, Valente C, Gusmao A et al. (2011) Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective. PLoS One 6(1): e15988.

Mihaylova V, Hantke J, Sinigerska I et al. (2007) Highly variable neural involvement in sphingomyelinase‐deficient Niemann–Pick disease caused by an ancestral Gypsy mutation. Brain 130(Pt 4): 1050–1061.

Minãrik G, Ferãk V, Ferãkovã E et al. (2003) High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non‐syndromic hearing loss (NSHL). General Physiology and Biophysics 22(4): 549–556.

Mitui M, Campbell C, Coutinho G et al. (2003) Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Human Mutation 22(1): 43–50.

Morar B, Gresham D, Angelicheva D et al. (2004) Mutation history of the Roma/Gypsies. American Journal of Human Genetics 75(4): 596–609.

O'Connell S, Butler K, McMenamin J, Waldron M and Green AJ (2005) Genetic conditions in the Irish Roma gypsy population. Irish Medical Journal 98(10): 246–247.

Pamjav H, Zalán A, Béres J, Nagy M and Chang YM (2011) Genetic structure of the paternal lineage of the Roma people. American Journal of Physical Anthropology 145(1): 21–29.

Pereira V, Gusmao L, Valente C et al. (2012) Refining the genetic portrait of Portuguese Roma through X‐chromosomal markers. American Journal of Physical Anthropology 148(3): 389–394.

Piccolo F, Jeanpierre M, Leturcq F et al. (1996) A founder mutation in the γ‐sarcoglycan gene of Gypsies possibly predating their migration out of India. Human Molecular Genetics 5(12): 2019–2022.

Plášilová M, Stoilov I, Sarfarazi M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. Journal of Medical Genetics 36(4): 290–294.

Quental S, Macedo‐Ribeiro S, Matos R et al. (2008) Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular Genetics and Metabolism 94(2): 148–156.

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(11): e48477.

Regueiro M, Stanojevic A, Chennakrishnaiah S et al. (2011) Divergent patrilineal signals in three Roma populations. American Journal of Physical Anthropology 144(1): 80–91.

Reich S, Hennermann J, Vetter B et al. (2002) An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatric Research 51(5): 598–601.

Sahoo S, Singh A, Himabindu G et al. (2006) A prehistory of Indian Y chromosomes: evaluating demic diffusion scenarios. Proceedings of the National Academy of Sciences of the USA 103(4): 843–848.

Salihović MP, Barešić A and Klarić IM (2011) The role of the Vlax Roma in shaping the European Romani maternal genetic history. American Journal of Physical Anthropology 146(2): 262–270.

Sánchez‐Ferrero E, Coto E, Beetz C et al. (2013) SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510 V. Clinical Genetics 83(3): 257–262.

Santamaria R, Chabas A, Coll MJ et al. (2006) Twenty one novel mutations in the GLB1 gene identified in a large group of GM1‐gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59 H mutation among gypsies. Human Mutation 27(10): 1060.

Sharp JD, Wheeler RB, Parker KA et al. (2003) Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Human Mutation 22(1): 35–42.

Sinigerska I, Chandler D, Vaghjiani V et al. (2006) Founder mutation causing infantile GM1‐gangliosidosis in the Gypsy population. Molecular Genetics and Metabolism 88(1): 93–95.

Sun C, Kong QP, Palanichamy MG et al. (2006) The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Molecular Biology and Evolution 23(3): 683–690.

Todorov T, Savov A, Mihailova V et al. (2007) Ethnic specific background of mutations in Bulgarian patients with Wilson disease. Genetic Counseling 18(4): 445–450.

Underhill PA, Shen P, Lin AA et al. (2000) Y chromosome sequence variation and the history of human populations. Nature Genetics 26(3): 358–361.

Varon R, Gooding R, Steglich C et al. (2003) Partial deficiency of the C‐terminal‐domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nature Genetics 35(2): 185–189.

Vermeer S, Hoischen A, Meijer RP et al. (2010) Targeted next‐generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal‐recessive cerebellar ataxia. American Journal of Human Genetics 87(6): 813–819.

Vogt G, Puhó E and Czeizel AE (2005) A population‐based case‐control study of isolated anophthalmia and microphthalmia. European Journal of Epidemiology 20(11): 939–946.

Zalán A, Béres J and Pamjav H (2011) Paternal genetic history of the Vlax Roma. Forensic Science International: Genetics 5(2): 109–113.

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.

Marushiakova E and Popov V (1997) Gypsies (Roma) in Bulgaria. In: Studien zur Tsiganologie und Folkloristik, vol. 18. Frankfurt am Main: Peter Lang. http:/∼patrin/ history.html.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
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]