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Mutation history of the roma/gypsies.

ABSTRACT: 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.

SUBMITTER: Morar B

PROVIDER: S-EPMC1182047 | biostudies-literature | 2004 Oct

REPOSITORIES: biostudies-literature

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Mutation history of the roma/gypsies.

Morar Bharti B Gresham David D Angelicheva Dora D Tournev Ivailo I Gooding Rebecca R Guergueltcheva Velina V Schmidt Carolin C Abicht Angela A Lochmuller Hanns H Tordai Attila A Kalmar Lajos L Nagy Melinda M Karcagi Veronika V Jeanpierre Marc M Herczegfalvi Agnes A Beeson David D Venkataraman Viswanathan V Warwick Carter Kim K Reeve Jeff J de Pablo Rosario R Kucinskas Vaidutis V Kalaydjieva Luba L

American journal of human genetics 20040820 4

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 ...[more]

PMID: 15322984

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Project description:BackgroundThe incidence of cancer is increasing worldwide, which has led to greater public health focus on primary prevention. Ethnic minorities have lower awareness of cancer risk factors and services, and are at greater risk of cancer mortality. While Gypsies, Roma and Travellers have poor health outcomes even in comparison with other ethnic minorities, little is known about how they view and enact primary prevention. This study takes a participatory approach to explore knowledge and experience of cancer prevention and screening in these communities.MethodsPeer researchers conducted interviews (n = 37) and a focus group (n = 4) with a purposive sample of community members in Wales and South-West England. Participants self-identified as Roma (from Slovakia and Romania) or as Gypsies, Travellers or Showpeople (here described as Gypsy/Travellers). A third of the sample were Roma, and a quarter male, with ages ranging from 18 to 77 years. Data were collected from October 2018 to March 2019.ResultsWomen and men knew that lifestyle factors, such as healthy diet, stopping smoking, drinking less alcohol and using sun protection, contribute to cancer risk reduction. However, there was a widespread lack of confidence in the effectiveness of these measures, particularly in relation to smoking. Traditional cultural beliefs were shared by Roma and Gypsy/Travellers, but did not necessarily affect the behaviour of individuals. Most women participated in cervical and breast screening but few Gypsy/Traveller men would engage with bowel screening, which conflicted with community ideals of stoical masculinity. Roma participants described language barriers to screening, with confusion about differences in timing and eligibility between the UK and Slovakian programmes; this led some to access screening abroad.ConclusionThis study provides new knowledge about how Gypsies, Roma and Travellers keep healthy and prevent disease, giving insights into similarities and differences between ages, sexes and communities. These culturally distinct and high-need ethnic minorities have specific needs in relation to cancer prevention and screening, which merit targeted and acceptable health promotion to reduce health inequalities.

Project description:The Roma populations in Central and Eastern Europe are two to three times more likely to have unmet health needs compared to non-Roma residents. The aim of the present study was to investigate the disparity in screening attendance between Hungarian-speaking Roma (R) and non-Roma (nR) women in Hungary (HU-R:322; nR:294), Romania (RO-R:258; nR:183), and Slovakia (SK-R:146; nR:163), while also identifying the factors that influence attendance at any kind of screening tests in both populations. In order to examine these factors, a multiple binary logistic regression was conducted. The findings revealed significant associations between attendance at any kind of screening tests and certain factors among different groups. Among Hungarian Roma women, it was found that having a chronic disease and smoking were linked to attendance at any kind of screening tests (p = 0.009). Specifically, having a chronic disease increased the odds of attendance (OR = 1.71 [1.01, 2.90]), while smoking decreased the odds (OR = 0.57[0.365, 0.91]). In Romania, the study found that not having health insurance decreased the odds of attendance among Roma women (OR = 0.50 [0.27, 0.91]), whereas having a chronic disease increased the odds (OR = 2.87 [1.44, 5.72]) (p = 0.006). Among non-Roma women in Romania, physical inactivity was associated with a decreased likelihood of attendance at any kind of screening tests (OR = 0.48 [0.25, 0.95]). Among Slovakian Roma women, not having health insurance (OR = 0.09[0.02, 0.36]) and smoking (OR = 0.25[0.11, 0.61]) were found to decrease the odds of attendance (p < 0.001). On the other hand, non-Roma women in Slovakia with chronic diseases were more likely to attend at any kind of screening tests (OR = 2.52[1.12, 5.66]). Our research emphasizes the impact of lacking health insurance on screening attendance, particularly among the Roma population. It also highlights the significance of health-related behaviours such as smoking and physical inactivity in relation to missed screening tests, which in turn contribute to the development of non-communicable diseases. Therefore, promoting targeted screening programs for the Roma community is crucial to ensure their access to screening tests, especially in cases of chronic illnesses.

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Mutation history of the roma/gypsies.

Publications

Mutation history of the roma/gypsies.

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