Abstract: The Roma (Romani, Gypsy) people represent a unique population of the world as they do not belong to a single nation state; they use numerous different languages, and they belong to various social, cultural, and religious groups. They are dispersed throughout Europe and often migrate from region to region. Having no written history or genealogy, their origin and migration during the nomadic periods of their history remains unknown. Their population size is estimated to be in the range of 10-15 million in Europe, with the largest populations in Eastern-Europe. Their population growth rate is higher than that of the surrounding populations. The geographically dispersed Roma populations, often referred to as the “invisible minority”, have been socially marginalized and historically often persecuted. Previous genetic and linguistic studies suggest an Indian origin. We analyzed data from six Roma groups by genotyping hundreds of thousands of SNPs, and confirmed that the Roma have shared ancestry with Europeans and South Asians. We estimate that the Roma harbor 83% West Eurasian ancestry with an average estimate of about 27 generations or 800 years for an admixture date of the ancestral groups, consistent with the historically attested arrival of the Roma to Europe from India. They differ genetically from the major EU populations in several medical aspects, as well. They have unique diseases with specific founder mutations, including specific neuromuscular phenotypes. When compared with other populations, we have been able to verify unique signatures in pharmacogenetically relevant SNPs and haplotypes in MDR1, and various CYP metabolizing systems based on analyzing biobanks of Roma population samples. Besides these multiple-metabolizing systems, we have identified differences in specific metabolizing enzymes or systems, like VKORC1, MTHFR, PON1, and P2RY12, as well as other systems that also contribute directly or indirectly to personalized therapy, like APOA5, GCKR, MLXIPL, GALNT2, and TRIB1.

Brief biography of the speaker:
Bela Melegh, MD, PhD, DSc, graduated at the University of Pecs; now he is professor of medical genetis and pediatrics, head of the Department of Medical Genetics, University of Pecs, Hungary. His long-term scientific interest includes the investigation of the investigation of carnitine in humans, carnitine deficiency conditions. As a natural extension, this led to the inclusion of some neuromuscular diseases, including mtDNA and triplet extension associated conditions to the research fields. He is a leader of the national biobank consortium (member of Biobanking and Biomolecular Research Infrastructure; BBMRI); using biobank collections his group performs population genetic research also on many rare and common disease entities; the group has numerous international collaborations. The Roma collection provides an exceptional position for pharmacogenomic research in his department. He is currently president of Hungarian Society of Human Genetics, he is board member of European Society of Human Genetics, member of the European Board of Human Genetics. Dr. Melegh is authored over 200 peer-reviewed research articles.