RESUMO
Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.
Assuntos
Resistência à Proteína C Ativada/genética , Fator V/genética , Mutação de Sentido Incorreto/genética , Protrombina/genética , Roma (Grupo Étnico) , Trombofilia/genética , Resistência à Proteína C Ativada/etnologia , Adulto , Alelos , Substituição de Aminoácidos , Feminino , Frequência do Gene , Humanos , Masculino , Eslováquia/etnologia , Trombofilia/etnologiaRESUMO
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.
Assuntos
Hemocromatose , Antígenos de Histocompatibilidade Classe I/genética , Proteínas de Membrana/genética , Roma (Grupo Étnico) , Estudos de Coortes , Feminino , Frequência do Gene , Genótipo , Hemocromatose/etnologia , Hemocromatose/genética , Proteína da Hemocromatose , Humanos , Masculino , Mutação , Taxa de Mutação , Reação em Cadeia da Polimerase em Tempo Real , Eslováquia/epidemiologia , População BrancaRESUMO
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.
Assuntos
Obesidade/genética , Proteínas/genética , Roma (Grupo Étnico)/genética , Adulto , Idoso , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Índice de Massa Corporal , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Obesidade/epidemiologia , Obesidade/etnologia , Razão de Chances , Polimorfismo de Nucleotídeo Único , Roma (Grupo Étnico)/estatística & dados numéricos , Eslováquia/epidemiologia , Estatísticas não Paramétricas , Circunferência da Cintura , Relação Cintura-QuadrilRESUMO
Haplotype data of 11 Y-STR loci (DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385) was obtained from 629 Slovak Caucasian men living in Eastern Slovakia. A total of 474 haplotypes were identified, of which 395 were unique. The haplotype diversity value was 0.9982. Pairwise haplotype distances showed that the Eastern Slovak Caucasian population is not significantly different from the Slavs populations and is separated from the Balkan nations and the German speaking populations.
Assuntos
Cromossomos Humanos Y , Frequência do Gene , Genética Populacional , Repetições de Microssatélites/genética , Haplótipos , Humanos , Masculino , EslováquiaRESUMO
Eleven Y-chromosomal microsatellite loci included in the Powerplex Y multiplex kit were analyzed in different Slovak population samples: Habans (n = 39), Romanies (n = 100) and Slovak Caucasian (n = 148) individuals, respectively, from different regions of Slovakia. The analysis of molecular variance between populations indicated that 89.27% of the haplotypic variations were found within populations and only 10.72% between populations (Fst = 0.1027; p = 0.0000). The haplotype diversities were ranging from 0.9258 to 0.9978, and indicated a high potential for differentiating between male individuals. The study reports differences in allele frequencies between the Romanies, Habans and Slovak Caucasian men. Selected loci showed that both the Romany and Haban population belonged to endogamous and relatively small founder population groups, which developed in relatively reproductive isolated groups surrounded by the Slovak Caucasian population.
