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1.
Croat Med J ; 63(2): 117-125, 2022 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-35505645

RESUMO

AIM: To compare the Croatian and European population in terms of allele frequencies of clinically relevant polymorphisms in drug absorption, distribution, metabolism, and excretion (ADME) genes. METHODS: In 429 Croatian participants, we genotyped 27 loci in 20 ADME genes. The obtained frequencies were merged with the published frequencies for the Croatian population by sample size weighting. The study sample obtained in this way was compared with the average data for the European population from the gnomAD database. RESULTS: Variant allele frequencies in the Croatian population were higher in three and lower in two polymorphisms (Benjamini-Hochberg-corrected P values: 0.0027 for CYP2B6*4 rs2279343, CYP2C9*2 rs1799853, and VKORC1 rs9923231; 0.0297 for GSTP1 rs1695; 0.0455 for CYP2A6 rs1801272) compared with the European population. The most marked difference was observed for CYP2B6*4 (9.3% in Europe vs 24.3% in Croatia). The most clinically relevant findings were higher variant allele frequencies in two polymorphisms related to lower warfarin requirements: VKORC1*2 (34.9% in Europe vs 40.1% in Croatia) and CYP2C9*2 (12.3% in Europe vs 14.7% in Croatia). This indicates that three-quarters of Croatian people have at least one variant allele at these loci. Variants in genes GSTP1 and CYP2A6 were significantly less frequently observed in Croatia. CONCLUSIONS: Croatian population has a higher bleeding and over-anticoagulation risk, which is why we recommend the prescription of lower doses of anticoagulation drugs such as warfarin and acenocoumarol. Lower phenytoin, and higher bupropion and efavirenz doses are also recommended in the Croatian population.


Assuntos
Farmacogenética , Varfarina , Anticoagulantes , Croácia , Citocromo P-450 CYP2B6 , Citocromo P-450 CYP2C9/genética , Humanos , Vitamina K Epóxido Redutases/genética
2.
PLoS One ; 13(11): e0207671, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30452466

RESUMO

The products of the polymorphic ADME genes are involved in Absorption, Distribution, Metabolism, and Excretion of drugs. The pharmacogenetic data have been studied extensively due to their clinical importance in the appropriate drug prescription, but such data from the isolated populations are rather scarce. We analyzed the distribution of 95 polymorphisms in 31 core ADME genes in 20 populations worldwide and in newly genotyped samples from the Roma (Gypsy) population living in Croatia. Global distribution of ADME core gene loci differentiated three major clusters; (1) African, (2) East Asian, and (3) joint European, South Asian and South American cluster. The SLCO1B3 (rs4149117) and CYP3A4 (rs2242480) genes differentiated at the highest level the African group of populations, while NAT2 gene loci (rs1208, rs1801280, and rs1799929) and VKORC1 (rs9923231) differentiated East Asian populations. The VKORC1 rs9923231 was among the investigated loci the one with the largest global minor allele frequency (MAF) range; its MAF ranged from 0.027 in Nigeria to 0.924 in Han Chinese. The distribution of the investigated gene loci positions Roma population within the joined European and South Asian clusters, suggesting that their ADME gene pool is a combination of ancestral (Indian) and more recent (European) surrounding, as it was already implied by other genetic markers. However, when compared to the populations worldwide, the Croatian Roma have extreme MAF values in 10 out of the 95 investigated ADME core gene loci. Among loci which have extraordinary MAFs in Roma population two have strong proof of clinical importance: rs1799853 (CYP2C9) for warfarin dosage, and rs12248560 (CYP2C19) for clopidogrel dosage, efficacy and toxicity. This finding confirms the importance of taking the Roma as well as the other isolated populations`genetic profiles into account in pharmaco-therapeutic practice.


Assuntos
Clopidogrel/farmacocinética , Citocromo P-450 CYP2C19/genética , Variantes Farmacogenômicos , Roma (Grupo Étnico)/genética , Varfarina/farmacocinética , África/etnologia , Arilamina N-Acetiltransferase/genética , Ásia/etnologia , Croácia/etnologia , Citocromo P-450 CYP3A/genética , Frequência do Gene , Genética Populacional , Migração Humana , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , Membro 1B3 da Família de Transportadores de Ânion Orgânico Carreador de Soluto/genética , América do Sul/etnologia , Vitamina K Epóxido Redutases/genética
3.
Pharmacogenomics ; 18(17): 1575-1587, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29095103

RESUMO

AIM: To determine variation of CYP2B6 gene within the genetically specific Croatian Roma (Gypsy) population originating from India and to examine it in the worldwide perspective. MATERIALS & METHODS: Seven SNP loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 and rs8192709) were genotyped in 439 subjects using Kompetitive Allele Specific PCR (KASP) method. RESULTS: The Croatian Roma took an outlying position in CYP2B6 variation from the worldwide perspective mainly due to their exceptionally high minor allele frequency (MAF) for rs8192709 (12.8%), and lower for rs2279343 (21.1%) compared with south Asian populations. CONCLUSION: This study provides the first data of several CYP2B6 polymorphisms in Roma population and indicates the need for systematic investigation of the most important pharmacogenes' variants in this large, transnationally isolated population worldwide.


Assuntos
Citocromo P-450 CYP2B6/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , Povo Asiático/genética , Frequência do Gene/genética , Genótipo , Humanos
4.
Econ Hum Biol ; 11(3): 326-36, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22633739

RESUMO

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.


Assuntos
Doenças Cardiovasculares/epidemiologia , Roma (Grupo Étnico) , Adolescente , Adulto , Fatores Etários , Idoso , Biometria , Doenças Cardiovasculares/etnologia , Doenças Cardiovasculares/etiologia , Croácia/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Fatores de Risco , Adulto Jovem
5.
Am J Phys Anthropol ; 146(2): 262-70, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21915846

RESUMO

The Roma are comprised of many founder groups of common Indian origins but different socio-cultural characteristics. The Vlax Roma are one of the founder Roma populations characterized by a period of bondage in the historic Romanian principalities, and by the archaic Romanian language. Demographic history suggests different migration routes of Roma populations, especially after their arrival in Mesopotamia and the eastern boundary of the Byzantine Empire. Although various genetic studies of uniparental genetic markers showed a connection between Roma genetic legacy and their migration routes, precise sampling of Roma populations elucidates this relationship in more detail. In this study, we analyzed mitochondrial DNA of 384 Croatian Vlax Roma from two geographic locations in the context of 734 European Roma samples. Our results show that Roma migration routes are marked with two Near-Eastern haplogroups, X2 and U3, whose inverse proportional incidence clearly separates the Balkan and the Vlax Roma from other Roma populations that reached Europe as part of the first migration wave. Spatial and temporal characteristics of these haplogroups indicate a possibility of their admixture with Roma populations before arrival in Europe. Distribution of haplogroup M35 indicates that all Vlax Roma populations descend from one single founder population that might even reach back to the original ancestral Indian population. Founder effects followed by strict endogamy rules can be traced from India to contemporary small, local communities, as in the case of two Croatian Vlax Roma populations that show clear population differentiation despite similar origins and shared demographic history.


Assuntos
Povo Asiático/genética , DNA Mitocondrial/genética , Efeito Fundador , Roma (Grupo Étnico)/genética , População Branca/genética , Adulto , Análise de Variância , Croácia , Evolução Molecular , Feminino , Marcadores Genéticos , Variação Genética/genética , Genética Populacional , Haplótipos , Humanos , Masculino , Filogenia , Filogeografia
6.
Lipids Health Dis ; 10: 9, 2011 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-21244662

RESUMO

BACKGROUND AND AIMS: The Roma (Gypsies) are a transnational minority, founder population characterized by unique genetic background modeled by culturally determined endogamy. The present study explores whether the widely found cardiovascular diseases (CVD) risk effects of ACE I/D, APOE (ε2, ε3, ε4), eNOS-VNTR and LEP G2548A polymorphisms can be replicated in this specific population. METHODS AND RESULTS: The community-based study was carried on 208 adult Bayash Roma living in rural settlements of eastern and northern Croatia. Risk effect of four CVD candidate polymorphisms are related to the most prominent classical CVD risk phenotypes: obesity indicators (body mass index and waist circumference), hypertension and hyperlipidemia (triglycerides, HDL and LDL cholesterol). For all of them the standard risk cut-offs were applied. The extent to which the phenotypic status is related to genotype was assessed by logistic regression analysis. The strongest associations were found for ε2 allele of the APOE as a predictor of waist circumference (OR 3.301; 95%CI 1.254-8.688; p = 0.016) as well as for BMI (OR 3.547; 95%CI 1.471-8.557; p = 0.005). It is notable that ε3 allele of APOE gene turned out to be a protective genetic factor determining low lipid levels. CONCLUSION: The strength of the relation and the similarity of the results obtained for both tested indicators of obesity provide firm evidence that APOE plays an important role in obesity development in the Roma population.


Assuntos
Apolipoproteína E2/genética , Obesidade/genética , Polimorfismo de Nucleotídeo Único , Roma (Grupo Étnico) , Adulto , Alelos , Índice de Massa Corporal , Croácia , Frequência do Gene , Estudos de Associação Genética , Genética Populacional , Humanos , Obesidade/fisiopatologia , Fatores de Risco , Circunferência da Cintura
7.
Am J Hypertens ; 22(6): 663-8, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19265782

RESUMO

BACKGROUND: Population isolates are characterized by simplified genetic background and as such present promising opportunities for studying complex diseases. We performed a genome-wide linkage analysis for systolic (SBP) and diastolic blood pressure (DBP) followed up by the association analysis in the Croatian isolated island of Vis, where a very high prevalence of hypertension was reported (75%). METHODS: Variance-components linkage analysis was used to map quantitative trait loci (QTL) for SBP and DBP in 125 families with 1,389 members. Follow-up association analysis was performed in a sample of 421 subjects from the island of Vis. The 15 top-ranking single nucleotide polymorphisms (SNPs) were selected and tested for the association by in silico replication in the British 1958 Birth Cohort DNA Collection. RESULTS: Linkage results showed evidence for a QTL influencing DBP (lod = 1.89) on chromosome 7p14.2 and two QTL influencing SBP (lod = 2.03 on chromosome 1p36 and lod = 1.75 on chromosome 20q13). For the association results, the replication was observed for the rs237484 polymorphism on chromosome 20 that was associated with SBP with the effect size beta = -5.2 (P = 0.001; per A allele) in Vis population and beta = -1.1 (P = 0.04) in the British 1958 Birth Cohort. rs237484 is in proximity to the potassium voltage gate channel gene (KCNB1) and close to the prostaglandin I2 (prostacyclin) synthase gene (PTGIS). CONCLUSIONS: These results provide evidence of a QTL influencing blood pressure (BP) variability in this region and support the notion that the isolated population of the island of Vis is a suitable population for conducting linkage and association analyses of cardiovascular-related phenotypes.


Assuntos
Pressão Sanguínea/fisiologia , Sistema Enzimático do Citocromo P-450/genética , DNA/genética , Ligação Genética , Hipertensão/genética , Locos de Características Quantitativas , Canais de Potássio Shab/genética , Croácia/epidemiologia , Feminino , Seguimentos , Humanos , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase , Prevalência , Sístole
8.
Am J Phys Anthropol ; 138(3): 333-42, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18785634

RESUMO

The Bayash are a branch of Romanian speaking Roma living dispersedly in Central, Eastern, and Southeastern Europe. To better understand the molecular architecture and origin of the Croatian Bayash paternal gene pool, 151 Bayash Y chromosomes were analyzed for 16 SNPs and 17 STRs and compared with European Romani and non-Romani majority populations from Europe, Turkey, and South Asia. Two main layers of Bayash paternal gene pool were identified: ancestral (Indian) and recent (European). The reduced diversity and expansion signals of H1a patrilineages imply descent from closely related paternal ancestors who could have settled in the Indian subcontinent, possibly as early as between the eighth and tenth centuries AD. The recent layer of the Bayash paternal pool is dominated by a specific subset of E1b1b1a lineages that are not found in the Balkan majority populations. At least two private mutational events occurred in the Bayash during their migrations from the southern Balkans toward Romania. Additional admixture, evident in the low frequencies of typical European haplogroups, J2, R1a, I1, R1b1b2, G, and I2a, took place primarily during the early Bayash settlement in the Balkans and the Romani bondage in Romania. Our results indicate two phenomena in the Bayash and analyzed Roma: a significant preservation of ancestral H1a haplotypes as a result of considerable, but variable level of endogamy and isolation and differential distribution of less frequent, but typical European lineages due to different patterns of the early demographic history in Europe marked by differential admixture and genetic drift.


Assuntos
Cromossomos Humanos/genética , Frequência do Gene , Variação Genética , Ásia , Sudeste Asiático , Povo Asiático/genética , Cromossomos Humanos Y , Croácia , Cultura , Etnicidade , Europa (Continente) , Pool Gênico , Humanos , Idioma , Masculino , Polimorfismo de Fragmento de Restrição , Turquia
9.
Forensic Sci Int Genet ; 2(2): e11-3, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19083796

RESUMO

Seventeen Y-chromosomal short tandem repeats (STRs) (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATA H4.1) were typed in DNA samples from 146 unrelated adult Romani Bayash men from eastern and northwestern Croatia. Analysed Croatian Bayash Romani population represents an example of genetically homogenous population characterised by low levels of haplotype diversity and unique haplotype ratio as well as sharing of the same most frequent (founding) haplotype and its close derivatives by more than one third of the analyzed men. Despite almost exclusive sharing of the same minimal haplotype and its closely related derivates on the background of the Indian Y SNP haplogroup H1, we observed considerable level of genetic differentiation of Romani populations across Europe that should not be neglected in forensic statistics.


Assuntos
Cromossomos Humanos Y , Etnicidade/genética , Variação Genética , Repetições de Microssatélites/genética , Adulto , Croácia , DNA/genética , DNA/isolamento & purificação , Impressões Digitais de DNA/métodos , Heterogeneidade Genética , Geografia , Haplótipos , Humanos , Masculino , Técnicas de Amplificação de Ácido Nucleico , Reação em Cadeia da Polimerase , Polimorfismo Genético , Padrões de Referência , Software
10.
Coll Antropol ; 32(3): 667-76, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18982735

RESUMO

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.


Assuntos
Doenças Cardiovasculares/etnologia , Doenças Cardiovasculares/epidemiologia , Roma (Grupo Étnico) , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Doenças Cardiovasculares/prevenção & controle , Croácia/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Hipertensão/etnologia , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fumar , Fatores Socioeconômicos , Adulto Jovem
11.
Am J Hum Genet ; 83(3): 359-72, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18760389

RESUMO

Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of inferring individual autozygosity, all on the basis of limited marker data. Now, with the availability of high-density genome scans, a multipoint, observational method of estimating individual autozygosity is possible. Using data from a 300,000 SNP panel in 2618 individuals from two isolated and two more-cosmopolitan populations of European origin, we explore the potential of estimating individual autozygosity from data on runs of homozygosity (ROHs). Termed F(roh), this is defined as the proportion of the autosomal genome in runs of homozygosity above a specified length. Mean F(roh) distinguishes clearly between subpopulations classified in terms of grandparental endogamy and population size. With the use of good pedigree data for one of the populations (Orkney), F(roh) was found to correlate strongly with the inbreeding coefficient estimated from pedigrees (r = 0.86). Using pedigrees to identify individuals with no shared maternal and paternal ancestors in five, and probably at least ten, generations, we show that ROHs measuring up to 4 Mb are common in demonstrably outbred individuals. Given the stochastic variation in ROH number, length, and location and the fact that ROHs are important whether ancient or recent in origin, approaches such as this will provide a more useful description of genomic autozygosity than has hitherto been possible.


Assuntos
Genoma Humano , Homozigoto , Linhagem , População Branca/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade
12.
Coll Antropol ; 32(1): 85-91, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18494193

RESUMO

The metabolic syndrome, an assemblage of risk factors, viz., obesity, dyslipidemia, carbohydrate intolerance, and hypertension, associated with development of cardiovascular diseases and Type 2 diabetes, has become a major public health problem in the developed countries. However, data on its prevalence in worldwide populations, particularly in non-industrialized societies is sparse. We report the prevalence of metabolic syndrome in an island population of the eastern Adriatic coast of Croatia, a distinctly homogenous population living in relative isolation with a traditional way of life style pattern. The participants consist of 381 unrelated individuals (136 males, 245 females) from the island of Hvar, age 19 and above. Hvar is among the most populated Croatian islands with a total population of 11,459 individuals according to the 1991 census. Metabolic syndrome was assessed following the National Cholesterol Education Program (NCEP) criteria, with the exception of using body mass index and waist hip ratio as the predictors of obesity. Overall age-adjusted prevalence of metabolic syndrome is 26% (32% in males and 24% in females) with body mass index, and 42% (57% in males and 36% in females) with waist hip ratio as the measures of obesity. Pairwise correlations of the age and sex-adjusted individual components show that with the exception of fasting plasma glucose, the other components of metabolic syndrome are significantly associated with each other, suggesting their co-morbidity. In spite of adherence to a relatively traditional life-style pattern together with a "Mediterranean diet" and rural habitat, the prevalence of metabolic syndrome is substantially high in the population of Hvar. It is likely that factors other than nutritional practices, that might include genetic susceptibility, could potentially be important in predisposition to metabolic syndrome.


Assuntos
Síndrome Metabólica/epidemiologia , Adulto , Idoso , Índice de Massa Corporal , Croácia/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Relação Cintura-Quadril
13.
Nat Genet ; 40(4): 437-42, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18327257

RESUMO

Uric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200-500 microM) compared with other mammals (3-120 microM). About 70% of daily urate disposal occurs via the kidneys, and in 5-25% of the human population, impaired renal excretion leads to hyperuricemia. About 10% of people with hyperuricemia develop gout, an inflammatory arthritis that results from deposition of monosodium urate crystals in the joint. We have identified genetic variants within a transporter gene, SLC2A9, that explain 1.7-5.3% of the variance in serum uric acid concentrations, following a genome-wide association scan in a Croatian population sample. SLC2A9 variants were also associated with low fractional excretion of uric acid and/or gout in UK, Croatian and German population samples. SLC2A9 is a known fructose transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes.


Assuntos
Proteínas Facilitadoras de Transporte de Glucose/fisiologia , Gota/sangue , Transportadores de Ânions Orgânicos/metabolismo , Ácido Úrico/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Transporte Biológico Ativo , Biomarcadores/sangue , Biomarcadores/urina , Estudos de Casos e Controles , Croácia , Feminino , Frutose/metabolismo , Ligação Genética , Genoma Humano , Genótipo , Alemanha , Gota/urina , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Oócitos/citologia , Oócitos/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Xenopus laevis/metabolismo
14.
Hum Biol ; 80(5): 513-33, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19341321

RESUMO

Isolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.


Assuntos
Consanguinidade , Hemostasia/genética , Inflamação/genética , Polimorfismo de Nucleotídeo Único/genética , Característica Quantitativa Herdável , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores , Fatores de Confusão Epidemiológicos , Croácia , Feminino , Marcadores Genéticos , Geografia , Humanos , Modelos Lineares , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Análise de Regressão , Estatística como Assunto , Adulto Jovem
15.
Croat Med J ; 48(5): 708-19, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17948957

RESUMO

AIM: To assess the key characteristics related to living conditions and health in the Bayash Roma population in Baranja and Medimurje regions of Croatia and identify possible demographic and socio-economic sources of variance in self-reported health and reproductive profile. METHODS: The study comprised a total of 266 adult Bayash individuals from Baranja and 164 from Medimurje (aged 41.3+/-15.1 years). Data on ethno-historical and demographic background, self-identity, life and hygiene conditions, education, employment, health insurance, and health (dietary and smoking habits, reproductive characteristics, diagnosed and undiagnosed health problems, use of medications). were obtained through interviews. Bivariate and multivariate methods were used in statistical analyses. RESULTS: The reported migratory pattern demonstrated that 88.8% of the examinees were born in the region of residence, which showed that the Bayash population was autochthonous and sedentary one. Financially, the Bayash primarily relayed on social welfare support allowance (84%) and child allowance (47%), while merely 2% were permanently and 23% occasionally employed. The proportion of the Bayash who had never attended school amounted to 33.3% (19.3% men and 40.6% women). The access to public water supply system was available to 52.5% of examinees, whereas only 1.7% had public sewage system, and 23.4% had private septic tanks. The most commonly reported health burden were frequent headaches (20.3%), stomach pain (16.3%), anxiety or insomnia (13.1%), hypertension (9.3%), and chronic obstructive pulmonary disease (COPD) (8.6%). The logistic regression identified level of education (odds ratio [OR], 0.77; 95% confidence interval [CI], 0.63-0.94) and access to health insurance (OR, 4.32; 95% CI, 1.46-12.77) as socio-economic/life-style factors playing a significant role in the occurrence of COPD. CONCLUSION: Our results indicate poor inclusion of the Bayash in the essential social service sectors such as health care, education, and employment, as well as substandard living conditions and unfavorable health-related behavior. Since education and health insurance were found to have significant effects on the observed reproductive status and self-reported health, they should be targeted in planning public health actions for socially marginalized and economically deprived groups.


Assuntos
Cultura , Nível de Saúde , Qualidade de Vida , Roma (Grupo Étnico)/etnologia , Adulto , Croácia/epidemiologia , Estudos Transversais , Emigração e Imigração/estatística & dados numéricos , Feminino , Inquéritos Epidemiológicos , Habitação/estatística & dados numéricos , Humanos , Seguro Saúde/estatística & dados numéricos , Modelos Logísticos , Masculino , Análise Multivariada , Inquéritos Nutricionais , Obesidade/etnologia , Gravidez , Comportamento Reprodutivo/etnologia , Distribuição por Sexo , Fumar/etnologia , Seguridade Social/estatística & dados numéricos , Fatores Socioeconômicos
16.
Hum Mol Genet ; 16(2): 233-41, 2007 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-17220173

RESUMO

The dramatic changes in human population structure over the last 200 years have resulted in significant levels of outbreeding, which, in turn, is predicted to lead to increased levels of individual genetic diversity (genome-wide heterozygosity, h). To investigate possible effects of these large demographic changes on global health, we studied the effect of h, measured as relative heterozygosity, h(R), on 15 disease-related traits in four groups of individuals with widely differing ancestral histories (ranging from outbred to inbred) from the Dalmatian islands in Croatia. Higher levels of h(R), estimated using 1184 STR/indel markers, were found in the outbred group (P < 0.0001) and were associated with lower blood pressure (BP) and total/LDL cholesterol (P = 0.01 and 0.01, respectively) after controlling for other factors, with BP showing a strong sex effect (males P > 0.5 and females P = 0.002). These findings, if replicated, suggest that h(R) be considered as a genetic risk factor in genetic epidemiological studies on common disease traits. They are consistent with the well-known effects of heterosis (hybrid vigour) described when outcrossing animals and plants. Outbreeding resulting from urbanization and migration from traditional population subgroups may be leading to increasing h(R) and may have beneficial effects on a range of traits associated with human health and disease. Other traits, such as age at menarche, IQ and lifespan, which have been changing during the decades of urbanization, may also have been influenced by demographic factors.


Assuntos
Triagem de Portadores Genéticos/métodos , Genética Populacional , Genômica/métodos , Característica Quantitativa Herdável , Fatores Etários , Pressão Sanguínea , Estatura , LDL-Colesterol/sangue , Croácia , Feminino , Marcadores Genéticos/genética , Genótipo , Humanos , Masculino , Fatores Sexuais , Fatores Socioeconômicos
17.
Eur J Hum Genet ; 14(4): 478-87, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16493443

RESUMO

Communities with increased shared ancestry represent invaluable tools for genetic studies of complex traits. "1001 Dalmatians" research program collects biomedical information for genetic epidemiological research from multiple small isolated populations ('metapopulation') in the islands of Dalmatia, Croatia. Random samples of 100 individuals from 10 small island settlements (n<2000 inhabitants) were collected in 2002 and 2003. These island communities were carefully chosen to represent a wide range of distinct and well-documented demographic histories. Here, we analysed their genetic make-up using 26 short tandem repeat (STR) markers, at least 5 cM apart. We found a very high level of differentiation between most of these island communities based on Wright's fixation indexes, even within the same island. The model-based clustering algorithm, implemented in STRUCTURE, defined six clusters with very distinct genetic signatures, four of which corresponded to single villages. The extent of background LD, assessed with eight linked markers on Xq13-21, paralleled the extent of differentiation and was also very high in most of the populations under study. For each population, demographic history was characterised and 12 "demographic history" variables were tentatively defined. Following stepwise regression, the demographic history variable that most significantly predicted the extent of LD was the proportion of locally born grandparents. Strong isolation and endogamy are likely to be the main forces maintaining this highly structured overall population.


Assuntos
Genética Populacional , Análise por Conglomerados , Croácia , Demografia , Marcadores Genéticos , Humanos , Desequilíbrio de Ligação , Repetições de Microssatélites
18.
Coll Antropol ; 30(4): 783-7, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17243550

RESUMO

This study examines anthropometrically assessed nutritional status of the Bayash, the Roma population from the eastern Croatian region of Baranya, and compares it to the non-Roma general population of eastern Croatia. The analysis of nutritional status and diets is a segment of multidisciplinary anthropological and epidemiological survey of the Roma minority population in Croatia began in 2005. The Bayash are an ethnic group that arrived to Croatia from Romania most likely in the 19th century and speaks a distinct archaic dialect of the Romanian language. The Roma population of Baranya approximates 1,000 according to the 2001 census. The Bayash sample comprised 227 adults aged 18-65yrs. The women fall below the Croatian 10th percentile for stature and men track about the 10th percentile. Both sexes approximate the 25th percentile for body weight. Despite their diminutive size, the Bayash appear to have adequate nutritional status until the age of 35yrs after which their average BMI exceeds the value of 25 kg/m(2) and falls in the overweight category. However, 8% of Bayash are underweight (BMI<18.5) in contrast to 1% of the majority population in the region. Underweight rates are especially high in women (11%) compared to men (4%). The prevalence of overweight (BMI 25.0 to 29.9) of 30% is considerably lower than in the majority population (42%) while the prevalence of obesity (BMI>or=30.0) of 23% is approximately equal. Overall unsatisfactory nutritional status of the Bayash merits attention. It appears to be the product of unhealthy dietary habits and their socio-economic deprivation that resulted from their poor education and extremely high unemployment.


Assuntos
Índice de Massa Corporal , Estado Nutricional/etnologia , Roma (Grupo Étnico) , Adolescente , Adulto , Idoso , Croácia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/etnologia , Sobrepeso/etnologia , Magreza/etnologia
19.
Forensic Sci Int ; 154(2-3): 252-6, 2005 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-16182974

RESUMO

Eight Y-STR polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were analyzed in the samples of 181 unrelated males from Bosnia and Herzegovinia. Observed STR allelic frequency pattern and locus diversity values in Bosnians and Herzegovinians correspond closer to neighboring southeastern European populations than previously reported (mostly western) European populations. One hundred and five haplotypes were identified and 78 haplotypes (74.3%) appeared in single copies. The most frequent haplotypes (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) were 16-14/15-13-31-24-11-11-13 (7.7%), 16-14/15-13-30-24-11-11-13 (7.7%) and 15-14/15-13-31-24-11-11-13 (5.5%). Total haplotype diversity was 0.9820 +/- 0.0040.


Assuntos
Cromossomos Humanos Y , Genética Populacional , Polimorfismo Genético , Sequências de Repetição em Tandem , Adulto , Bósnia e Herzegóvina , Impressões Digitais de DNA , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da Polimerase
20.
Forensic Sci Int ; 154(2-3): 257-61, 2005 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-16182975

RESUMO

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in Macedonians (n = 84) and Macedonian Romani ethnic group (n = 68). Observed allelic frequency distribution and locus diversity values in Macedonians correspond closer to neighboring southeastern European populations than (mostly) western European populations, whereas observed allelic frequency distribution and locus diversity values in Macedonian Romani, as expected based on their Asian (Indian) origin, differ from both neighboring southeastern and (mostly) western European populations. Sixty-six (78.57%) haplotypes appeared in single copies in Macedonians and 15 (22.06%) in Macedonian Romani. The most frequent Macedonian haplotypes (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) 16-14/15-13-31-24-11-11-13 and 13-16/18-13-30-24-10-11-13 were found in 7 and 6 copies, respectively. The most frequent Macedonian Romani haplotype 15-15/17-14-29-22-10-11-12 was found in 18 males. Total haplotype diversity was 0.9885 +/- 0.0058 (Macedonians) and 0.9008 +/- 0.0242 (Macedonian Romani).


Assuntos
Cromossomos Humanos Y , Genética Populacional , Sequências de Repetição em Tandem , Adulto , Impressões Digitais de DNA , Etnicidade/genética , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , República da Macedônia do Norte
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