Abstract
Background Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India.MethodsIn this study, based also on genome-wide SNP data, we attempted to refine these findings using significantly larger number of European Roma samples, an extended dataset of Indian groups and involving Pakistani groups into the analyses. Our Roma data contained 179 Roma samples. Our extended Indian data consisted of 51 distinct Indian ethnic groups, which provided us a higher resolution of the population living on the Indian subcontinent. We used in this study principal component analysis and other ancestry estimating methods for the study of population relationships, several formal tests of admixture and an improved algorithm for investigating shared IBD segments in order to investigate the main sources of Roma ancestry.ResultsAccording to our analyses, Roma showed significant IBD sharing of 0.132 Mb with Northwest Indian ethnic groups. The most significant IBD sharings included ethnic groups of Punjab, Rajasthan and Gujarat states. However, we found also significant IBD sharing of 0.087 Mb with ethnic groups living in Pakistan, such as Balochi, Brahui, Burusho, Kalash, Makrani, Pashtun and Sindhi.ConclusionOur results show that Northwest India could play an important role in the South Asian ancestry of Roma, however, the origin of Romani people might include the area of Pakistan as well.
Highlights
Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Romani people (Roma) and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India
The merged dataset contained 158 Roma samples featuring 599,472 autosomal SNPs. These data were merged with datasets from five other sources, including the International Haplotype Map Phase 3 (HapMap) (n = 1115 from 11 populations genotyped on Illumina Human1M and Affymetrix 1 M platforms), the CEPHHuman Genome Diversity Panel (HGDP) (n = 1043 from 52 populations, 660,918 SNPs genotyped on Illumina 650 Y array), the authorized access requiring Population Reference Sample (POPRES) (n = 4077 from 57 populations, 453,617 SNPs genotyped on Affymetrix 500 K platform) [13] and an upon request available merged data containing Indian samples from two previous studies (n = 378 from 51 groups, 494,863 SNPs genotyped on Affymetrix 1 M and Illumina 650 K arrays) [11, 14]
Ancestry analysis of Roma We implemented Principal Component Analysis (PCA) using SMARTPCA and the clustering software ADMIXTURE to study the relationship of Roma to Europeans and to South Asians
Summary
Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India. The Roma belong to the Indo-European language family, speak more than 60 dialects of Romani language and do not have a single convention for writing. Because of their diverse nature, they do not have a written history, experts can only infer to their history through linguistics, historical records of other nations they contacted with and through genetic investigations. Linguistic and historical studies have suggested that the Roma are originating from South Asia and migrated towards Europe between the 5th and 10th century [2] Their possible migration route could include the Caucasus and the Anatolian Peninsula [2, 3]. Most of the Roma people live currently mainly in the Balkans, the Iberian Peninsula and in East-Central Europe [4, 5]
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