Plenary
Lecture
Pharmacogenomics of Romany people
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Professor Bela Melegh
University of Pecs
Department of Medical Genetics
HUNGARY
E-mail:
bela.melegh@aok.pte.hu
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.
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