Association of the FTO rs9939609 polymorphism with obesity in Roma/Gypsy population

The rs9939609 SNP located in the first intron of the fat mass and obesity associated gene (FTO) has been found to be associated with common obesity mainly in populations of European descent. The Roma/Gypsy population as an ethnic minority of Asian Indian origin is well known for its adverse health status with a high prevalence of obesity. The main aim of this study was to examine the contribution of the rs9939609 FTO polymorphism to the high prevalence of obesity in the Roma/Gypsy population. Following a number of anthropometric measurements, the FTO rs9939609 polymorphism was genotyped in 312 Roma/Gypsy individuals. We observed significant differences in body mass index (BMI), waist circumference, and waist-to-hip ratio between different genotypes (P = 0.003, P = 0.012, and P = 0.03, respectively). The waist circumference in the subjects with AA genotype was about 7.1 cm larger than in those with TT genotypes (P = 0.005). However, the strongest association of minor allele A of the rs9939609 FTO polymorphism was found with BMI (odds ratio, 1.55; 95% confidence interval, 1.129-2.128; P = 0.007), even after adjusting for age, sex, and smoking status. This study provides the first report of allele and genotype frequencies for the rs9939609 polymorphism and also the first evidence of the association of the FTO variant with obesity in the Roma/Gypsy population.     

Reconstructing the Origins and Migrations of Diasporic Populations: The Case of the European Gypsies

The sociohistorical study of Gypsies/Sinti/Roma has been dominated by the "Gypsy-lorist" paradigm. According to this paradigm, these itinerant people belong to a unitary ethnic group of South Asian origin whose cultural practices have been preserved over the centuries. Recently, this perspective has come under criticism for perpetuating the image of Gypsies as an isolate within the wider context of the development of European societies, and, in particular, for placing too much importance on the external origin of Gypsy cultural and linguistic practices. This article attempts to place the available biological anthropological data for Roma origins and population history (from molecular genetic and clinical studies) in the wider ethnohistorical and linguistic context, and assesses their potential impact for an integrationist approach to Gypsy studies. These data suggest that, while the "Gypsy-lorist" paradigm is problematic, Gypsy populations share a common biological origin, a reality that should not be ignored.     

Increased prevalence of the CVD-associated ANRIL allele in the Roma/Gypsy population in comparison with the majority Czech population

Cardiovascular disease (CVD) is a major cause of death around the world, with highest prevalence reported in minority Roma/Gypsy populations living in developed countries. Whether these differences are caused by unhealthy lifestyles or genetic factors remain unknown. The aim of our study was to examine the genotype frequencies of the rs10757274 polymorphism in the 9p.21 locus within ANRIL (antisense non-coding RNA in the INK4 locus), a long non-coding RNA located in the vicinity of the CDKN2A/2B inhibitors loci. ANRIL is understood to be the strongest genetic determinant of CVD in Caucasians. Using PCR-RFLP, we analysed the ANRIL rs10757274 polymorphism in 298 non-Roma (50% male) and 302 Roma/Gypsy (50% male) adult (39.5 ± 15.1 years and 39.2 ± 12.8 years, respectively) subjects. We found that frequencies of the ANRIL GG, GA and AA genotypes were 20.1%, 52.4% and 27.5% in the majority population and 32.9%, 47.9% and 19.2% in Roma/Gypsy subjects, respectively. The distribution of genotypes was deemed significantly different at P < 0.001. Within the Roma/Gypsy population, we detected increased prevalence of the CVD-associated GG genotype. Increased prevalence of CVD among Roma/Gypsies subjects may be significantly linked to genetic background.     

Unique frequencies of HFE gene variants in Roma/Gypsies

The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE gene. A unique genetic profile was revealed: C282Y is found in the highest frequency of all Central European countries (4.90%), while the frequency of H63D mutation (4.09%) is lower than any reported in Europe so far. S65C mutation was not present in the cohort. These mutation frequencies can be explained rather by gene influx and genetic isolation than by genetic inheritance from a former Roma/Gypsy homeland.     

REMEMBERING WITHOUT COMMEMORATION: THE MNEMONICS AND POLITICS OF HOLOCAUST MEMORIES AMONG EUROPEAN ROMA

Much has been written in recent years about the ways Gypsies (Roma) relate to their past. One important study of Holocaust memory has used the Roma as a paradigmatic case of a people who forget rather than remember their history. Rather than examining processes of 'obliterating' or downplaying the past, the approach taken here is to consider ways in which, despite Gypsy 'presentist' rhetoric, the past is 'remembered' among Gypsy populations. Following Maurice Bloch's call for greater integration of psychological and anthropological work, this article considers what can be gained from seeing memory as a socially distributed function in which the role of 'implicit' memories, embedded in dealings with others, is significant. This approach enables us better to grasp how Romany communities, which were persecuted by the Nazis and their allies during the Second World War, 'remember' the past even though they may not commemorate it.     

‘Here are the Gypsies!’ The importance of self-representations and how to question prominent images of Gypsy minorities

Abstract

Gypsy, Roma or traveller minorities remain a group that is still homogenized as the ‘other’¹1. There are an estimated 12 million Gypsy people across Europe, with the majority residing in Central and Eastern Europe. ‘Roma’ is the European institutional preferred umbrella term, but it is often rejected by activists and at a local level because many groups still identify as ‘Gypsies’ (Gay y Blasco 2002 Gay Y Blasco, Paloma 2002 ‘Gypsy/Gypsy diasporas: A comparative perspective’, Social Anthropology, vol. 10, no. 2, pp. 173–88[Crossref] , [Google Scholar]; Mayall 2004 Mayall, David 2004 Gypsy Identities 1500–2000: From Egipcyans and Moon-men to the Ethnic Romany, London: Routledge[Crossref] , [Google Scholar]; Szuhay 2005 Szuhay, Péter 2005 ‘The self-definitions of Roma ethnic groups and their perceptions of other Roma groups’, in Kemény István (ed.), Roma of Hungary, New York: Columbia University Press, pp. 237–46 [Google Scholar]). In this article I use ‘Gypsy’ as a translation of the Hungarian word cigány as this is how the participants self-identified.. The European imagination continues to be entrenched in the spectacle of their difference – images of weddings, musicians, funerals and fights are fascinating and are thus prioritized. But what would happen if the cameras were given to these people themselves? What if they became the image-makers? This article examines how ethnic studies might contribute to breaking the mould of the exoticized Gypsy through self-representations. The study here formed part of an ethnographic project among primary school pupils in Hungary. Using the photo elicitation method, children were given disposable cameras producing 451 photographs that then formed the basis of interviews. The results reveal very few indicators that could be described as significantly or distinctively divided into ‘Gypsy’ or ‘non-Gypsy’ identifications, questioning the status of difference in discourses around such minorities.     

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

Mutations in the GJB2 gene are the most common cause of autosomal recessive nonsyndromic hearing loss and occur in approximately 20% of all cases of prelingual deafness. Previous studies of Roma/Gypsies in Slovakia, the Czech Republic, and Spain have shown that W24X, the most common GJB2 mutation in India, is also the prevalent molecular defect in the Gypsy population. The reported W24X frequencies vary broadly from 23% to 93% of Gypsy mutant alleles, likely reflecting local founder effects, drift, and differential admixture in the subisolates of this genetically structured population. Our goal was to provide more representative data on W24X carrier rates in European Gypsies, which can inform individual diagnostic investigations and public health initiatives across countries. Mutation testing in 603 control subjects of Gypsy ethnicity, representing 8 traditional subisolates in southeastern Europe and 4 additional European regions revealed that W24X is spread across subisolates, as expected for an ancestral founder mutation. While variation between subisolates does exist, the average carrier rates, overall and in the major linguistic/migrational categories of Balkan Gypsies, Vlax Roma, and west European Gypsies, are consistently in the 4%-5% range. The results place W24X among the three most common founder mutations in the Gypsies, and classify them as one of the high-risk populations for prelingual deafness. Higher demands on language acquisition in this bilingual population, together with poorer quality of health care compared to autochthonous Europeans, make the consequences of congenital deafness even more damaging than is usually the case. Neonatal screening for W24X among Gypsies would be a justified and cost-effective public health intervention.     

Mutation history of the roma/gypsies

The 8-10 million European Roma/Gypsies are a founder population of common origins that has subsequently split into multiple socially divergent and geographically dispersed Gypsy groups. Unlike other founder populations, whose genealogy has been extensively documented, the demographic history of the Gypsies is not fully understood and, given the lack of written records, has to be inferred from current genetic data. In this study, we have used five disease loci harboring private Gypsy mutations to examine some missing historical parameters and current structure. We analyzed the frequency distribution of the five mutations in 832-1,363 unrelated controls, representing 14 Gypsy populations, and the diversification of chromosomal haplotypes in 501 members of affected families. Sharing of mutations and high carrier rates supported a strong founder effect, and the identity of the congenital myasthenia 1267delG mutation in Gypsy and Indian/Pakistani chromosomes provided the best evidence yet of the Indian origins of the Gypsies. However, dramatic differences in mutation frequencies and haplotype divergence and very limited haplotype sharing pointed to strong internal differentiation and characterized the Gypsies as a founder population comprising multiple subisolates. Using disease haplotype coalescence times at the different loci, we estimated that the entire Gypsy population was founded approximately 32-40 generations ago, with secondary and tertiary founder events occurring approximately 16-25 generations ago. The existence of multiple subisolates, with endogamy maintained to the present day, suggests a general approach to complex disorders in which initial gene mapping could be performed in large families from a single Gypsy group, whereas fine mapping would rely on the informed sampling of the divergent subisolates and searching for the shared genomic region that displays the strongest linkage disequilibrium with the disease.     

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

The 185delAG BRCA1 deletion occurs with a high frequency in Ashkenazi Jews. We detected this mutation in two Spanish Gypsy women (the only Gypsy participants) in an extensive study of 90 high-risk families and 160 women with early-onset breast cancer. One of these Gypsy women belonged to a high-risk family and the other had had early-onset breast cancer. The mutation was also detected in 1 out of 25 Gypsy samples unrelated to breast cancer. All the samples with the mutation shared the marker alleles present in Jewish samples with 185delAG. This is the first report of this mutation in a non-Jewish well-defined ethnic population. According to these findings the carrier frequency of this mutation in Gypsy individuals could be several times higher than that of the general population, and this should be taken into consideration in genetic screening for cancer in Gypsy populations. Received: 2 August 1998 / Accepted: 9 October 1998     

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective

Previous genetic, anthropological and linguistic studies have shown that Roma (Gypsies) constitute a founder population dispersed throughout Europe whose origins might be traced to the Indian subcontinent. Linguistic and anthropological evidence point to Indo-Aryan ethnic groups from North-western India as the ancestral parental population of Roma. Recently, a strong genetic hint supporting this theory came from a study of a private mutation causing primary congenital glaucoma. In the present study, complete mitochondrial control sequences of Iberian Roma and previously published maternal lineages of other European Roma were analyzed in order to establish the genetic affinities among Roma groups, determine the degree of admixture with neighbouring populations, infer the migration routes followed since the first arrival to Europe, and survey the origin of Roma within the Indian subcontinent. Our results show that the maternal lineage composition in the Roma groups follows a pattern of different migration routes, with several founder effects, and low effective population sizes along their dispersal. Our data allowed the confirmation of a North/West migration route shared by Polish, Lithuanian and Iberian Roma. Additionally, eleven Roma founder lineages were identified and degrees of admixture with host populations were estimated. Finally, the comparison with an extensive database of Indian sequences allowed us to identify the Punjab state, in North-western India, as the putative ancestral homeland of the European Roma, in agreement with previous linguistic and anthropological studies.     

Does being Roma matter? Ethnic boundaries and stigma spillover in musical consumption

Manele songs, an updated version of traditional Romani music, are excluded from mainstream Romanian media due to their association with the country’s large Roma minority. The genre is at the intersection between Romania’s democratic transition and growing efforts to strengthen boundaries between the country’s marginalized Romani minority and the non-Romani majority population. But we find that media discussions around manele underscore a fluid relationship between ethnic boundaries and stigmatized cultural consumption. All those who listen to manele are portrayed in negative terms by the media, no matter whether ethnic markers are used as part of the portrayal. In the context of manele, genre-based stereotypes extend beyond ethnic boundaries to assign negative social value to a wide swathe of people who consume the genre. The stigma spillover surrounding manele audiences therefore underlines the ways in which Roma identity is fluid, and anyone associated with the Roma can be relegated to the lower rungs of social status. Manele show how the political process of ethnic boundary-making draws a wide net over those located at the bottom of power hierarchies.     

Comparative analysis of dermatoglyphic traits in Hungarian and Gypsy populations

We examined dermatoglyphic prints of children in 11 Hungarian and 5 Gypsy population samples (collected from 1,998 children). We compared Hungarian and Gypsy populations based on 22 finger and 24 palmar traits. In univariate comparisons the two ethnic groups differed significantly in half of the studied variables (9 finger and 14 palmar traits). We used several types of multivariate analyses of the studied traits to separate the population samples. Homogeneity analysis and discriminant analysis proved to be the most appropriate method to distinguish the populations, whereas a principal components analysis was less adequate. Multivariate analyses were conducted separately for both finger and palmar traits. Although the differences between the populations were more pronounced for palmar traits, in our study Hungarian and Gypsy populations showed the best separation when finger and palmar traits were combined for analysis, except in the principal components analysis. As expected, the Hungarian and Gypsy populations separated definitely in most statistical analyses; the main reason for this is the different origins of the two ethnic groups. The existence of the difference also shows that admixture between Hungarians and Gypsies has been small despite their living beside one another for several centuries.     

Roma political agency and spaces of social inclusion and exclusion: the contradictions of Roma self-governance amidst the rise of Hungary’s radical right

This paper examines the perspectives of local Roma leaders regarding the ongoing impacts, contradictions and civic outcomes of Hungary’s 1993 Act 77 on the Rights of National and Ethnic Minorities, legislation that created the framework for minority self-governance among Hungary’s thirteen recognized minority groups. We use interview data with Roma self-government leaders to examine the perceptions and experiences of Roma leaders regarding nationality self-governance as, alternately, a mechanism for enhancing social inclusion and political agency and/or, an institution that only exacerbates the exact exclusions it purports to address. We find that while some Roma nationality self-government leaders have been able to assert political agency and use local nationality self-governments for local initiatives, they report marked limitations in the scope of what they are able to do. This is accentuated in places marked by ethnic conflict where leaders struggle with balancing political agency against political cooptation.     

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Hereditary Motor and Sensory Neuropathy Lom (HMSNL) is a severe autosomal recessive peripheral neuropathy, the most common form of demyelinating Charcot-Marie-Tooth (CMT) disease in the Roma (Gypsy) population. The mutated gene, N-myc downstream-regulated gene 1 (NDRG1), is widely expressed and has been implicated in a range of processes and pathways. To gain an insight into NDRG1 function we performed yeast two-hybrid screening and identified interacting proteins whose known functions suggest involvement in cellular trafficking. Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. At the same time, the chromosomal location of NDRG1 coincides with a reported HDL-C QTL in humans and in mice. A putative role of NDRG1 in the general mechanisms of HDL-mediated cholesterol transport was supported by biochemical studies of blood lipids, which revealed an association between the Gypsy founder mutation, R148X, and decreased HDL-C levels.     

Age trends in prevalence of cardiovascular risk factors in Roma minority population of Croatia

The Roma (Gypsy) are the largest European minority population characterized by poverty, social exclusion as well as by numerous life-style and cultural specificities, which all could have an adverse impact on their cardiovascular health. This study assesses the prevalence of cardiovascular diseases (CVD) risk factors in community-based sample of 430 adult Roma, living in rural area of Croatia, by providing the actual and age-adjusted estimates using the European standard population. The most prominent classical CVD risk phenotypes (blood pressure, obesity, smoking, glucose and lipid profile) were selected, and the standard risk cut-offs were applied. The study has shown that compared to general population of Croatia, the Roma population bears a high CVD risk factors load related to smoking and high glucose level. The CVD risk factors prevalence in Roma also showed important sex and age patterns, the most imposing of which are the findings of higher prevalence of CVD risks in women (especially obesity and triglyceride levels) and the trend of higher body mass index (BMI) level in younger age group (18–34 years) which both stand in contrast to the trends characterizing the general population of Croatia. These findings are complemented by the trend of decreased risk in the oldest age group (65+ years) for all investigated CVD risk factors (with exception of triglycerides level) compared to the 50–64 age group. We conclude that the age and sex CVD risks pattern point to the health transition of this rural Roma population. As we expect the proportion of CVD in the Roma minority of Croatia to increase in the future along with further modernization of their lifestyle, the CVD prevention measures in this population are urgent and should be primarily targeted at women and at the younger segment of this population.     

The Roma in Macedonia: Ethnic politics and the marginal condition in a Balkan state

Most of Eastern Europe's five‐to‐seven‐million Roma (Gypsies) welcomed the revolutions of 1989 only to realize that the post‐communist era brought mixed blessing to them. Although since then their political and cultural marginalization had diminished, their social and economic circumstances had clearly deteriorated in East Central Europe and the Balkans alike. The only exception to this rule appears to be the newly independent Republic of Macedonia, where the Roma's conditions in many respects are far superior to those of their counterparts elsewhere in the region. There are several reasons for this phenomenon. In the economic realm the Macedonian Roma's situation has also worsened (although still much better than that of the Roma in other Balkan states) but not as a result of ethnic discrimination but owing to the economic hardships accompanying the post‐communist transitions. In the political sphere, the Roma in Macedonia have benefited from a state whose representatives are willing to rise above sympathetic rhetoric and take concrete steps to alleviate their problems as well as from relatively well organized Romani political parties. Most important, however, are the differences between societal attitudes towards the Roma in Macedonia and elsewhere in Eastern Europe. In Macedonia the Roma's relations with the dominant ethnic group (Macedonians) are primarily characterized by ‘peaceful coexistence’ rather than tension and animosity. Moreover, Romani communities in Macedonia are less isolated from non‐Roma both culturally and socio‐economically. This state of affairs is the result of a number of related factors, most important of which are that the Romani community does not represent a threat to Macedonians given their numerical weakness and lack of political clout in contradistinction to the very real threat posed by the ethnic Albanian community in the country. In turn, the Roma's relations to ethnic Albanians and Turks remain relatively agreeable as well.     

Ethnic mobilization and the state: the Roma in Eastern Europe

The political mobilization of marginalized ethnic groups is a process indispensable for the realization of their political objectives. This article identifies the key criteria and conditions that promote and impede successful ethnic mobilization and analyses the determinants of state policy towards newly mobilizing ethnic minorities. The theoretical arguments receive empirical support from the findings of a comparative study of the Romani (Gypsy) minority in seven East European states.     

Bulgarian Bone Marrow Donors Registry—past and future directions

Recently Bulgarian Bone Marrow Donors Registry (BBMDR) has been established and since August 2005 it has been a member of Bone Marrow Donors Worldwide. Currently the number of healthy donors included in the BBMDR is relatively low. All donors included in the BBMDR are typed for HLA-A, -B, -DRB loci. Phylogenetic analysis based on HLA allele frequencies shows that Bulgarians were characterized with closest genetic similarity to Macedonians, Greeks, Romanians, Cretans and Sardinians in comparison to the other European and Mediterranean populations. On the contrary the second largest ethnic minority–the Roma were the closest to the other Roma populations and North Indians. These differences were due to the predominance of alleles and haplotypes that are specific for the Asian and the other Roma populations. These specific genetic profiles in the Bulgarian ethnic minorities justify the need of an adequate representation of minorities in BBMDR. Future directions for BBMDR development are discussed, including an increase of the total number of donors and these for ethnic minorities, as well the enhancement of the level of resolution of the HLA typing for the donors in the registry.     

Prevalence of URAT1 allelic variants in the Roma population

ABSTRACT

The Roma represents a transnational ethnic group, with a current European population of 8–10 million. The evolutionary process that had the greatest impact on the gene pool of the Roma population is called the founder effect. Renal hypouricemia (RHUC) is a rare heterogenous inherited disorder characterized by impaired renal urate reabsorption. The affected individuals are predisposed to recurrent episodes of exercise-induced nonmyoglobinuric acute kidney injury and nephrolithiasis. To date, more than 150 patients with a loss-of-function mutation for the SLC22A12 (URAT1) gene have been found, most of whom are Asians. However, RHUC 1 patients have been described in a variety of ethnic groups (e.g., Arab Israelis, Iraqi Jews, Caucasians, and Roma) and in geographically noncontiguous countries. This study confirms our previous findings regarding the high frequency of SLC22A12 variants observed. Frequencies of the c.1245_1253del and c.1400C>T variants were found to be 1.92% and 5.56%, respectively, in a subgroup of the Roma population from five regions in three countries: Slovakia, Czech Republic, and Spain. Our findings suggested that the common dysfunction allelic variants of URAT1 exist in the general Roma population and thus renal hypouricemia should be kept in differential diagnostic algorithm on Roma patients with defect in renal tubular urate transport. This leads to confirm that the genetic drift in the Roma have increased the prevalence of hereditary disorders caused by very rare variants in major population.     

Traditional CVD risk factors and socio-economic deprivation in Roma minority population of Croatia

Researches into health inequalities consistently show disadvantages in health status, morbidity and mortality for various ethnic minority groups. Current knowledge about prevention of cardiovascular diseases (CVD) mainly derives from studies carried out in populations of European origin while the evidences involving Roma population are scarce. Roma, an ethnic minority of northern Indian origin, live in many countries throughout the world and are well known for preserved traditions and resistance to assimilation. They are most often marginalized economically, spatially, politically and in terms of culture. In order to assess the health status and health-related lifestyle attributes, a multidisciplinary anthropological and epidemiological community-based study was carried out including a total of 423 members of the Bayash Roma minority population living in two regions of Croatia (144 men and 279 women, aged 18-84 yrs). Hypertension (HT) was found in 24.8% Bayash Roma (21.5% men and 26.5% women) using standard diagnostic criteria (i.e. BP > or = 140/90 mm Hg or taking antihypertensive therapy). The prevalence increases from 5.9% in the age group 18-34 yrs; 35.0% in the age group 35-64 yrs, and 51.4% in the age group 65+ yrs. The prevalence of hypertension in the Bayash Roma is almost half of the magnitude of what is usually reported for the general population of Croatia. It is also lower when compared with other European populations and this finding is not due to comparatively younger average age of the Bayash sample. The significant association of hypertension with age and BMI was confirmed in this study and the importance of non-traditional SES-related CVD risk factors was highlighted. Smoking is a part of traditional Roma life-style and with 70% of smokers almost the entire population is equally exposed to this risk factor in their family environment. Since homogenously distributed, this risk factor did not show to be a significant predictor of hypertension. The extent to which hypertension is influenced by traditional CVD risk factors as well as by some SES indicators was also assessed using a forward stepwise method of the multivariate logistic analysis. Each risk factor was explored as quantitative variable as well as qualitative one using various cut-offs. The best model showed to be the one having age and BMI presented as quantitative variables and sex, region, smoking status, income and schooling years as categorical ones; with cut-off 3 for number of income sources and 8 for the number of schooling years. In spite of the low prevalence of hypertension, the presented results are showing that Bayash Roma are bearing a high CVD risk factors load. We expect that with westernization of their life-style and along with increase of the economic power, the proportion of CVD in population of Bayash Roma will also increase. Therefore, it is important to recognize the need for early cardiovascular disease risk factors prevention in this minority population.