INTERDISCIPLINARY ANTROPOLIC EPIDEMIOLOGICAL AND MOLECULAR-GENETIC RESEARCH OF ROMA IN CROATIA

Institute for Anthropological Research

COMPLETED PROJECTS

Project title: Population Structure and Genetic History of Roma from West Balkan, 7349
Wenner-Gren Foundation, SAD

www.wennergren.org

Principal investigator: Irena Martinović Klarić, PhD

Associates:

  • Prof Branka Janićijević, PhD, Institute for Anthropological Research
  • Prof Nina Smolej Narančić, PhD, Institute for Anthropological Research
  • Prof Tatjana Škarić-Jurić, PhD, Institute for Anthropological Research
  • Lovorka Barać Lauc, PhD
  • Prof Marijana Peričić Salihović, PhD, Institute for Anthropological Research

Abstract:

The field research was focused on the study of the Bayash, a branch of Romanian speaking Roma consisting of numerous groups living dispersedly in Central, Eastern and Southeastern Europe. Whereas the study of matrilinear heritage is underway, the origin and molecular architecture and of the Croatian Bayash paternal gene pool has been unveiled. The Bayash in Croatia represent one population of largely shared paternal genetic history characterized by a substantial percentage (44%) of common H1-M82 and E3b1-M78 lineages. Limited diversity of Indian specific H1-M82 lineages imply descent from closely related paternal ancestors from India, whereas substantial percentage of E3b1 lineages and high associated microsatellite variance is a reflection of significant admixture with majority populations from Southeastern Europe. Additional, although modest, traces of admixture are evident in the low frequencies of typical European haplogroups such as J2-M172, R1a-SRY1532, I1a-M253, R1b3-M269, G-M201 and I1b*-P37. Two phenomena are apparent in Croatian Bayash and analyzed European Romani populations: genetic homogeneity as a consequence of massive sharing of identical, ancestral Indian patrilineages in parallel with population differentiation based on variable distribution of less frequent, but typical European patrilineages introduced via more recent episodes of gene flow.

Project title: Obesity in Croatian Roma: The Interaction of Leptin System Genes and Nutritional Status Biomarkers in Different Environment, 2012-36/2013-E7

Nutricia Research Foundation, Hag, Nizozemska

www.nutricia-research-foundation.org

Principal investigator: Prof Tatjana Škarić-Jurić, PhD, Institute for Anthropological Research

Associates:

  • Prof Marijana Peričić Salihović, PhD, Institute for Anthropological Research
  • Prof Nina Smolej Narančić, PhD, Institute for Anthropological Research
  • Prof Branka Janićijević, PhD, Institute for Anthropological Research
  • Prof Jasna Miličić, PhD, Institute for Anthropological Research
  • Ana Barešić, PhD
  • Željka Tomas, PhD, Institute for Anthropological Research
  • Matea Zajc Petranović, PhD, Institute for Anthropological Research

Abstract:

The main objective of this project is to assess the effects of lifestyle changes on the expression of genetic risk factors for obesity. Among the populations suitable as a model for this type of research, the Croatian Roma stand out as a population currently in the process of transition from the traditional to the modern way of life. Since changes in lifestyle, as well as demographic and epidemiological transition regularly follow the socio-economic transition, this research allows the identification of those changes that carry an increased risk of obesity, and thus negatively influence the health of this population.
This project analyzes the patterns of occurrence of obesity in the minority Croatian Roma population and examines the effects of changes in environmental and lifestyle risk factors that arise as a result of urbanization. In addition, it examines the effect of leptin gene system (LEP, LEPR), and interaction of these genes with environmental factors, which contribute to the development of this complex phenotype. We expect that this research will make an important contribution to understanding the interrelationship between genetic and environmental factors in the development of obesity.

Project title: Molecular-genetic portrait of the Roma – an isolated founder population model

Ministry of science, education and sports, RH 196-1962766-2763

Principal investigator: Branka Janićijević, PhD

Associates:

  • Irena Martinović Klarić, PhD
  • Lovorka Barać Lauc, PhD
  • Marijana Peričić Salihović, PhD
  • Ana Barešić

Associates (foreign countries):

  • Prof Luba Kaladiyeva
  • Caroline Hayward, PhD
  • Prof Toomas Kivisild
  • Siiri Rootsi, PhD

Abstract:

The main objective of the project was to assess the population and genetic structure of the Roma population in Croatia using ancestral informative markers and to determine the possible genetic load of monogenic disorders, in order to better understand their genetic history, improve their living and health conditions which ultimately contribute to a more intensive involvement of the Roma in the community. The achievement of these goals was limited by the inflow of funds from the Ministry of Science, Education and Sports. In the course of the project period a total of 5 anthropological-epidemiological field studies in Roma populations in Croatia were conducted: 3 field studies in populations of the Roma Bayash in Baranja and Međimurje, and 2 field studies in populations of the Balkan Roma in Zagreb and the Zagreb County. The database of the Institute for Anthropological Research was hence enriched with samples of the studied populations collected in this field research, which include general, medical, morphological and physiological data.
To make sure the analysis of the population and the genetic structure of the Roma population in Croatia is as thorough as possible, a molecular genetic analysis of uniparental markers (mtDNA and Y chromosome), autosomal markers (STR loci) and X chromosome markers (STR loci) was carried out. Owing to their different models of inheritance, the analysis of these markers enabled us to fully elucidate the genetic structure of the studied populations. The results contributed to a better understanding of the complex relationships between many Romani groups which differ not only linguistically, but also in other socio-cultural characteristics defining the private sub-isolates. The results of the molecular analysis of uniparental markers confirmed the assumed Indian origin of the Roma groups. In the population of the Bayash Roma we additionally determined the specific mtDNA hereditary lines that had not been observed in other Roma populations, indicating their potentially different migration routes from India and therefore a long period of isolation.
The analysis of autosomal STR loci showed a significantly lower genetic diversity of the studied populations compared to other geographically close majority populations, and a low level of gene flow between the Roma and the surrounding majority populations. The results of X chromosome linkage analysis in the Roma showed levels of linkage disequilibrium similar to those in other isolated populations which makes this population an exceptionally suitable model for the study of complex traits. The results of the molecular genetic analysis of genetic markers and the data collected and analyzed using a methodology specific for the socio-cultural research (analyses of questionnaires) indicate an extremely high degree of endogamy in the Roma population of Croatia. In accordance with the aims of our project we have also analyzed the private mutations responsible for the formation of monogenic hereditary diseases specific to the Roma population.

The results of the molecular genetic analysis of genetic markers and the data collected and analyzed by methodology characteristic for socio-cultural research (analysis of questionnaires) indicate an extremely high degree of endogamy in the Roma population of Croatia. In accordance with the goals we have analyzed and the private mutations responsible for the monogenic hereditary diseases specific to the Roma population.

In the studied populations of the Bayash Roma we analyzed the frequency of alleles responsible for the formation of 4 monogenic diseases: hereditary sensory-motor neuropathy – type fracture (R148X mutation in the gene NDRG1), GM1 gangliosidosis (R59H mutation in the gene GLB1), muscular dystrophy of the pelvic girdle – type 2C (C283Y mutation gene g-SG) and syndrome of congenital cataract and neuropathy of the facial dysmorphic features (substitution of C / T 389 base pairs downstream of a compound of the exon 6 / intron gene CTDP1 6). The results indicate that they are heterozygous for the alleles for hereditary sensory-motor neuropathy – type of fracture among the Bayash Roma in Croatia whose frequency corresponds to that found in the Roma population as a whole. Patients with this disease were found exclusively among the Bayash Roma from Baranja, while in the Bayash Roma population of Međimurje they were not observed. The presence of the mutation in other three studies of the disease was observed in the Croatian population of the Bayash Roma. All obtained findings suggest a high degree of genetic and socio-cultural differences between the studied Roma population in Croatia and point to the need to define certain Roma groups as unique population groups worth further scientific research.

INSTITUTE FOR ANTHROPOLOGICAL RESEARCH

Ljudevita Gaja 32
10000 Zagreb, Croatia, p.p. 290
Phone: (+385) 01 55 35 100
Fax: (+385) 01 55 35 105
www.inatro.hr

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