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[PMID]:28859608
[Au] Autor:Melegh BI; Banfai Z; Hadzsiev K; Miseta A; Melegh B
[Ad] Endereço:University of Pecs, Szentagothai Research Centre, Ifjusag Road 20, Pecs, H-7624, Hungary.
[Ti] Título:Refining the South Asian Origin of the Romani people.
[So] Source:BMC Genet;18(1):82, 2017 Aug 31.
[Is] ISSN:1471-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND:  Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India. METHODS: In this study, based also on genome-wide SNP data, we attempted to refine these findings using significantly larger number of European Roma samples, an extended dataset of Indian groups and involving Pakistani groups into the analyses. Our Roma data contained 179 Roma samples. Our extended Indian data consisted of 51 distinct Indian ethnic groups, which provided us a higher resolution of the population living on the Indian subcontinent. We used in this study principal component analysis and other ancestry estimating methods for the study of population relationships, several formal tests of admixture and an improved algorithm for investigating shared IBD segments in order to investigate the main sources of Roma ancestry. RESULTS: According to our analyses, Roma showed significant IBD sharing of 0.132 Mb with Northwest Indian ethnic groups. The most significant IBD sharings included ethnic groups of Punjab, Rajasthan and Gujarat states. However, we found also significant IBD sharing of 0.087 Mb with ethnic groups living in Pakistan, such as Balochi, Brahui, Burusho, Kalash, Makrani, Pashtun and Sindhi. CONCLUSION: Our results show that Northwest India could play an important role in the South Asian ancestry of Roma, however, the origin of Romani people might include the area of Pakistan as well.
[Mh] Termos MeSH primário: Migração Humana
Roma (Grupo Étnico)/genética
[Mh] Termos MeSH secundário: Europa (Continente)
Fluxo Gênico
Genética Médica
Genoma Humano
Seres Humanos
Análise de Sequência com Séries de Oligonucleotídeos
Polimorfismo de Nucleotídeo Único
Roma (Grupo Étnico)/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1186/s12863-017-0547-x


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[PMID]:28288596
[Au] Autor:Jackson C; Bedford H; Cheater FM; Condon L; Emslie C; Ireland L; Kemsley P; Kerr S; Lewis HJ; Mytton J; Overend K; Redsell S; Richardson Z; Shepherd C; Smith L; Dyson L
[Ad] Endereço:Department of Health Sciences, University of York, Heslington, York, YO10 5DD, UK. cath@validresearch.co.uk.
[Ti] Título:Needles, Jabs and Jags: a qualitative exploration of barriers and facilitators to child and adult immunisation uptake among Gypsies, Travellers and Roma.
[So] Source:BMC Public Health;17(1):254, 2017 Mar 14.
[Is] ISSN:1471-2458
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Gypsies, Travellers and Roma (referred to as Travellers) are less likely to access health services including immunisation. To improve immunisation rates, it is necessary to understand what helps and hinders individuals in these communities in taking up immunisations. This study had two aims. 1. Investigate the views of Travellers in the UK on the barriers and facilitators to acceptability and uptake of immunisations and explore their ideas for improving immunisation uptake; 2. Examine whether and how these responses vary across and within communities, and for different vaccines (childhood and adult). METHODS: This was a qualitative, cross-sectional interview study informed by the Social Ecological Model. Semi-structured interviews were conducted with 174 Travellers from six communities: Romanian Roma, English Gypsy/Irish Travellers (Bristol), English Gypsy (York), Romanian/Slovakian Roma, Scottish Show people (Glasgow) and Irish Traveller (London). The focus was childhood and selected adult vaccines. Data were analysed using the Framework approach. RESULTS: Common accounts of barriers and facilitators were identified across all six Traveller communities, similar to those documented for the general population. All Roma communities experienced additional barriers of language and being in a new country. Men and women described similar barriers and facilitators although women spoke more of discrimination and low literacy. There was broad acceptance of childhood and adult immunisation across and within communities, with current parents perceived as more positive than their elders. A minority of English-speaking Travellers worried about multiple/combined childhood vaccines, adult flu and whooping cough and described barriers to booking and attending immunisation. Cultural concerns about antenatal vaccines and HPV vaccination were most evident in the Bristol English Gypsy/Irish Traveller community. Language, literacy, discrimination, poor school attendance, poverty and housing were identified as barriers across different communities. Trustful relationships with health professionals were important and continuity of care valued. CONCLUSIONS: The experience of many Travellers in this study, and the context through which they make health decisions, is changing. This large study identified key issues that should be considered when taking action to improve uptake of immunisations in Traveller families and reduce the persistent inequalities in coverage. TRIAL REGISTRATION: Current Controlled Trials ISRCTN20019630 .
[Mh] Termos MeSH primário: Grupos Étnicos
Acesso aos Serviços de Saúde
Aceitação pelo Paciente de Cuidados de Saúde
Migrantes
Viagem
Vacinação
[Mh] Termos MeSH secundário: Adulto
Criança
Estudos Transversais
Emigrantes e Imigrantes
Feminino
Serviços de Saúde
Seres Humanos
Imunização
Masculino
Pesquisa Qualitativa
Distribuição Espacial da População
Roma (Grupo Étnico)
Romênia/etnologia
Eslováquia/etnologia
Fatores Socioeconômicos
Reino Unido
Vacinas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Vaccines)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.1186/s12889-017-4178-y


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[PMID]:28129754
[Au] Autor:Belak A; Madarasova Geckova A; van Dijk JP; Reijneveld SA
[Ad] Endereço:Kosice Institute for Society and Health, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia. andrej.belak@upjs.sk.
[Ti] Título:Health-endangering everyday settings and practices in a rural segregated Roma settlement in Slovakia: A descriptive summary from an exploratory longitudinal case study.
[So] Source:BMC Public Health;17(1):128, 2017 Jan 28.
[Is] ISSN:1471-2458
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Research into social root-causes of poor health within segregated Roma communities in Central and Eastern Europe, i.e. research into how, why and by whom high health-endangering settings and exposures are maintained here, is lacking. The aim of this study was to assess the local setup of health-endangering everyday settings and practices over the long-term in one such community. It is the initial part of a larger longitudinal study qualitatively exploring the social root-causes of poor Roma health status through the case of a particular settlement in Slovakia. METHODS: The study, spanning 10 years, comprised four methodologically distinct phases combining ethnography and applied medical-anthropological surveying. The acquired data consisted of field notes on participant observations and records of elicitations focusing on both the setup and the social root-causes of local everyday health-endangering settings and practices. To create the here-presented descriptive summary of the local setup, we performed a qualitative content analysis based on the latest World Health Organization classification of health exposures. RESULTS: Across all the examined dimensions - material circumstances, psychosocial factors, health-related behaviours, social cohesion and healthcare utilization - all the settlements' residents faced a wide range of health-endangering settings and practices. How the residents engaged in some of these exposures and how these exposures affected residents' health varied according to local social stratifications. Most of the patterns described prevailed over the 10-year period. Some local health-endangering settings and practices were praised by most inhabitants using racialized ethnic terms constructed in contrast or in direct opposition to alleged non-Roma norms and ways. CONCLUSIONS: Our summary provides a comprehensive and conveniently structured basis for grounded thinking about the intermediary social determinants of health within segregated Roma communities in Slovakia and beyond. It offers novel clues regarding how certain determinants might vary therein; how they might be contributing to health-deterioration; and how they might be causally inter-linked here. It also suggests racialized ethnically framed social counter-norms might be involved in the maintenance of analogous exposure setups.
[Mh] Termos MeSH primário: Comportamentos Relacionados com a Saúde/etnologia
Nível de Saúde
Roma (Grupo Étnico)/estatística & dados numéricos
População Rural/estatística & dados numéricos
[Mh] Termos MeSH secundário: Estudos Transversais
Feminino
Seres Humanos
Estilo de Vida
Estudos Longitudinais
Masculino
Distribuição Espacial da População
Eslováquia
Classe Social
Segregação Social
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170129
[St] Status:MEDLINE
[do] DOI:10.1186/s12889-017-4029-x


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[PMID]:28003645
[Au] Autor:Safka Brozková D; Paulasová Schwabová J; Neupauerová J; Sabová J; Krutová M; Perina V; Trková M; Lassuthová P; Seeman P
[Ad] Endereço:Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
[Ti] Título:HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
[So] Source:J Hum Genet;62(3):431-435, 2017 Mar.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p.Arg148* mutation inherited from both parents by the autosomal recessive mechanism. But in one case, the recessive mutation was inherited only from one parent (father) and unmasked owing to an uniparental isodisomy of the entire chromosome eight. The inherited peripheral neuropathy owing to an isodisomy of the whole chromosome pointed to an interesting, less frequent possibility of recessive disease and complications with genetic counseling.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/genética
Doença de Charcot-Marie-Tooth/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
Mutação
Doença de Refsum/genética
Roma (Grupo Étnico)
Dissomia Uniparental
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Doença de Charcot-Marie-Tooth/diagnóstico
Doença de Charcot-Marie-Tooth/etnologia
Doença de Charcot-Marie-Tooth/fisiopatologia
Criança
Pré-Escolar
Cromossomos Humanos Par 8/química
República Tcheca
Surdez/fisiopatologia
Feminino
Efeito Fundador
Expressão Gênica
Genes Recessivos
Aconselhamento Genético
Genótipo
Seres Humanos
Masculino
Fenótipo
Doença de Refsum/diagnóstico
Doença de Refsum/etnologia
Doença de Refsum/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (Intracellular Signaling Peptides and Proteins); 0 (N-myc downstream-regulated gene 1 protein)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.148


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[PMID]:27694159
[Au] Autor:Papamichail D; Petraki I; Arkoudis C; Terzidis A; Smyrnakis E; Benos A; Panagiotopoulos T
[Ad] Endereço:Department of Child Health, National School of Public Health, Athens, Greece.
[Ti] Título:Low vaccination coverage of Greek Roma children amid economic crisis: national survey using stratified cluster sampling.
[So] Source:Eur J Public Health;27(2):318-324, 2017 Apr 01.
[Is] ISSN:1464-360X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background: Research on Roma health is fragmentary as major methodological obstacles often exist. Reliable estimates on vaccination coverage of Roma children at a national level and identification of risk factors for low coverage could play an instrumental role in developing evidence-based policies to promote vaccination in this marginalized population group. Methods: We carried out a national vaccination coverage survey of Roma children. Thirty Roma settlements, stratified by geographical region and settlement type, were included; 7-10 children aged 24-77 months were selected from each settlement using systematic sampling. Information on children's vaccination coverage was collected from multiple sources. In the analysis we applied weights for each stratum, identified through a consensus process. Results: A total of 251 Roma children participated in the study. A vaccination document was presented for the large majority (86%). We found very low vaccination coverage for all vaccines. In 35-39% of children 'minimum vaccination' (DTP3 and IPV2 and MMR1) was administered, while 34-38% had received HepB3 and 31-35% Hib3; no child was vaccinated against tuberculosis in the first year of life. Better living conditions and primary care services close to Roma settlements were associated with higher vaccination indices. Conclusions: Our study showed inadequate vaccination coverage of Roma children in Greece, much lower than that of the non-minority child population. This serious public health challenge should be systematically addressed, or, amid continuing economic recession, the gap may widen. Valid national estimates on important characteristics of the Roma population can contribute to planning inclusion policies.
[Mh] Termos MeSH primário: Recessão Econômica
Pesquisas sobre Serviços de Saúde/estatística & dados numéricos
Vacinação/estatística & dados numéricos
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Grécia
Seres Humanos
Masculino
Roma (Grupo Étnico)/estatística & dados numéricos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE
[do] DOI:10.1093/eurpub/ckw179


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[PMID]:27511636
[Au] Autor:Diószegi J; Fiatal S; Tóth R; Moravcsik-Kornyicki Á; Kósa Z; Sándor J; McKee M; Ádány R
[Ad] Endereço:Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, Kassai Street 26, Debrecen 4028, Hungary.
[Ti] Título:Distribution Characteristics and Combined Effect of Polymorphisms Affecting Alcohol Consumption Behaviour in the Hungarian General and Roma Populations.
[So] Source:Alcohol Alcohol;52(1):104-111, 2017 Jan.
[Is] ISSN:1464-3502
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: Harmful alcohol drinking habits, even among Roma children and adolescents, are more common than in the majority population. The aim of the study was to evaluate the genetic susceptibility of Roma to hazardous alcohol consumption compared to the Hungarian general population. METHODS: A total of 1273 samples from the population of segregated Hungarian Roma colonies and 2967 samples from the Hungarian general population were genotyped for 25 polymorphisms. Differences in genotype and allele distributions were investigated. Genetic risk scores (GRS) were generated to estimate the joint effect of individual single-nucleotide polymorphisms (SNPs). After unweighted and weighted GRS were calculated the distribution of scores in study populations was compared. RESULTS: The allele frequencies differed significantly between the study populations for 17 SNPs (P < 0.002), but the genetic alterations that predispose to or protect against harmful alcohol consumption were not overrepresented in the Roma population. The distribution of unweighted GRS in Roma population was left shifted compared to general population (P = 0.0013). The median weighted genetic risk score was lower among the subjects of Roma population compared to the subjects of general population (0.53 vs 0.65, P = 3.33 × 10 ) even after adjustment for confounding factors. CONCLUSIONS: Differences in alcohol consumption habits between the Hungarian Roma and Hungarian general populations do not appear to be linked to genetic constitution, this behaviour may occur as a result of different cultural values and environmental exposures. Population-based measures to tackle the fundamental drivers of consumption, which take account of cultural acceptability, are needed to reduce harmful alcohol consumption in the Roma population.
[Mh] Termos MeSH primário: Consumo de Bebidas Alcoólicas/etnologia
Consumo de Bebidas Alcoólicas/genética
Polimorfismo de Nucleotídeo Único/genética
Roma (Grupo Étnico)/etnologia
Roma (Grupo Étnico)/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Predisposição Genética para Doença/etnologia
Predisposição Genética para Doença/genética
Seres Humanos
Hungria/etnologia
Masculino
Meia-Idade
Vigilância da População/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE
[do] DOI:10.1093/alcalc/agw052


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[PMID]:28233954
[Au] Autor:Dolák F; Sedová L; Nováková D; Olisarová V
[Ad] Endereço:University of South Bohemia in Ceské Budejovice, Faculty of Health and Social Sciences, Institute of Nursing, Midwifery and Emergency Care, Ceské Budejovice, Czech Republic.
[Ti] Título:Approach to prevention of obesity of Roma population in the Region of South Bohemia with focus on selected eating behaviors.
[So] Source:Neuro Endocrinol Lett;37(suppl 2):46-51, 2016 Dec.
[Is] ISSN:0172-780X
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To survey obesity prevention methods for use in the Roma population with a focus on eating behaviors. METHODS: A semi-structured interview was used to identify potentially useful obesity prevention methods. Basic anthropometric measurements were also gathered at the same time. This study was part of the "Obesity and overweight in the Roma minority in the Region of South Bohemia" research project (grant project 280-COST-LD14114). Participants consisted of members of the Roma minority (302 respondents) as well as the majority (Czech) population for comparisons. RESULTS: Differences in eating behaviors like irregular eating schedules and excessive consumption of fast food were observed. Statistically significant differences between the Roma minority and the majority (Czech/non-Roma) population were found in this area with the help of statistical significance tests. The Chi-square characteristic of independence (χ2) was, in case of this distribution, valued at 30.815 with 5 degrees of freedom, P < 0.001. The analyses, based on the second degree of classification, identified statistically significant differences between the Roma minority and the majority population. Members of the Roma minority attended preventive health check-ups statistically less often than members of the majority population. Differences between the majority and the Roma population were also found in the degree of patient cooperation with general practitioners. CONCLUSION: The results show that the Roma population is more likely to engage in eating behaviors that can contribute to overweight and obesity than the majority population. Based on the results of a semi-structured interview and on the results of anthropometric measurements, we can say that the Roma population is at a greater health risk, relative to overweight and obesity, than the majority population.
[Mh] Termos MeSH primário: Comportamento Alimentar/etnologia
Sobrepeso/etnologia
Sobrepeso/prevenção & controle
Aceitação pelo Paciente de Cuidados de Saúde/etnologia
Roma (Grupo Étnico)/etnologia
[Mh] Termos MeSH secundário: Adulto
República Tcheca/etnologia
Seres Humanos
Obesidade/etnologia
Obesidade/prevenção & controle
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170225
[St] Status:MEDLINE


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[PMID]:28068283
[Au] Autor:Dzhambov AM; Dimitrova DD
[Ad] Endereço:Department of Hygiene and Ecological Medicine, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria
[Ti] Título:Association between Noise Pollution and Prevalent Ischemic Heart Disease.
[So] Source:Folia Med (Plovdiv);58(4):273-281, 2016 12 01.
[Is] ISSN:0204-8043
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Noise pollution is considered a risk factor for ischemic heart disease (IHD). Both are highly prevalent in Bulgaria, but their association has not been studied sufficiently. AIM: The aim of the present study was to examine the risk of IHD associated with road traffic (Lden) and lifetime occupational noise exposure (LONE) in a Bulgarian sample. MATERIALS AND METHODS: A cross-sectional survey was carried out among 513 residents of Plovdiv, Bulgaria. A questionnaire asked about doctor-diagnosed IHD, LONE and confounding factors. Lden was derived from official noise map after geocoding participants' addresses. In log-link Poisson regressions we investigated the relative risks of prevalent IHD. Sensitivity analyses examined subgroup differences. RESULTS: Lden ≥ 65 dB was associated with higher risk (RR=1.84, 95% CI: 0.61, 5.57) of IHD in long-term residents (≥ 20 years). LONE was associated with RR=1.76 (0.82, 3.78) for ever-exposed; and RR=2.35 (1.00, 5.52) for 15 - 47 years exposure. CONCLUSIONS: Exposure to Lden≥65 dB was associated with non-significantly higher risk of IHD. Longer LONE was consistently associated with higher risk. In some subgroups the effect of noise was more pronounced.
[Mh] Termos MeSH primário: Isquemia Miocárdica/epidemiologia
Ruído Ocupacional/estatística & dados numéricos
Ruído dos Transportes/estatística & dados numéricos
Ruído
[Mh] Termos MeSH secundário: Adulto
Idoso
Bulgária/epidemiologia
Estudos Transversais
Grupos Étnicos
Feminino
Seres Humanos
Incidência
Masculino
Meia-Idade
Grupos Minoritários
Prevalência
Análise de Regressão
Fatores de Risco
Roma (Grupo Étnico)
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170110
[St] Status:MEDLINE


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[PMID]:27906637
[Au] Autor:Stiburkova B; Gabrikova D; Cepek P; Simek P; Kristian P; Cordoba-Lanus E; Claverie-Martin F
[Ad] Endereço:a Institute of Rheumatology , Prague , Czech Republic.
[Ti] Título:Prevalence of URAT1 allelic variants in the Roma population.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):529-535, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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.
[Mh] Termos MeSH primário: Transportadores de Ânions Orgânicos/genética
Proteínas de Transporte de Cátions Orgânicos/genética
Erros Inatos do Transporte Tubular Renal/genética
Roma (Grupo Étnico)/genética
Cálculos Urinários/genética
[Mh] Termos MeSH secundário: Evolução Molecular
Feminino
Efeito Fundador
Frequência do Gene
Estudos de Associação Genética
Heterozigoto
Seres Humanos
Masculino
Prevalência
Erros Inatos do Transporte Tubular Renal/epidemiologia
Deleção de Sequência
Cálculos Urinários/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organic Anion Transporters); 0 (Organic Cation Transport Proteins); 0 (SLC22A12 protein, human)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


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[PMID]:27613936
[Au] Autor:Fiatal S; Tóth R; Moravcsik-Kornyicki Á; Kósa Z; Sándor J; McKee M; Ádány R
[Ad] Endereço:Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, Debrecen, Hungary.
[Ti] Título:High Prevalence of Smoking in the Roma Population Seems to Have No Genetic Background.
[So] Source:Nicotine Tob Res;18(12):2260-2267, 2016 Dec.
[Is] ISSN:1469-994X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: The prevalence of smoking in Romani of both genders is significantly higher than in the general population. Our aim was to determine whether a genetic susceptibility contributes to the high prevalence of smoking among Roma in a study based on data collected from cross-sectional surveys. METHODS: Twenty single nucleotide polymorphisms known to be closely related to smoking behavior were investigated in DNA samples of Hungarian Roma (N = 1273) and general (N = 2388) populations. Differences in genotype and allele distribution were investigated. Genetic risk scores (GRSs) were generated to estimate the joint effect of single nucleotide polymorphisms in genes COMT, CHRNA3/4/5, CYP2A6, CTNNA3, DRD2, MAOA, KCNJ6, AGPHD1, ANKK1, TRPC7, GABRA4, and NRXN1. The distribution of scores in study populations was compared. Age, gender, and body mass index were considered as confounding factors. RESULTS: Difference in allele frequencies between the study populations remained significant for 16 polymorphisms after multiple test correction (p < .003). Unexpectedly, the susceptible alleles were more common in the general population, although the protective alleles were more prevalent among Roma. The distribution of unweighted GRS in Roma population was left shifted compared to general population (p < .001). Furthermore, the median weighted GRS was lower among the subjects of Roma population compared to the subjects of general population (p < .001) even after adjustment for confounding factors. CONCLUSIONS: The harmful smoking behavior of the Roma population could not be accounted for by genetic susceptibility; therefore, interventions aimed at smoking prevention and cessation should focus on cultural and environmental factors. IMPLICATIONS: This is the first study designed to determine whether genetic background exists behind the harmful behavior of the smoking of the Roma population. Although the frequencies of susceptible and protective alleles strongly differ between the Hungarian Roma and general populations, it is shown that calculated GRSs being significantly higher in the general population, which do not support the hypothesis on the genetic susceptibility of the Roma population. Interventions aimed at smoking cessation in the Roma population should preferentially target cultural and environmental factors.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Fumar/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos Transversais
Características da Família
Feminino
Frequência do Gene
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Prevalência
Fatores de Risco
Roma (Grupo Étnico)
Romênia/epidemiologia
Fumar/genética
Abandono do Hábito de Fumar
Prevenção do Hábito de Fumar
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160911
[St] Status:MEDLINE
[do] DOI:10.1093/ntr/ntw161



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