CONSANGUINITY BY RANDOM ISONYMY AND SOCIOECONOMIC DEVELOPMENT IN ARGENTINA: A POPULATION STUDY.

In human populations various flexible, labile and interdependent structures (genetic, demographic, socioeconomic) co-exist, each of which can be organized in an hierarchical order corresponding to administrative entities. The relationship between consanguinity, as estimated by random isonymy (F ST), and socioeconomic conditions was analysed at different levels of political and administrative organization in Argentina. From the surnames of 22,666,139 voters from the 2001 electoral roll, F ST was estimated for 510 Argentinian departments. Using a principal component analysis, a Socio-Demographic and Economic Indicator (SDEI), summarizing the effect of 22 socioeconomic and demographic variables at the departmental level, was computed. The relationship between departmental F ST and SDEI values was analysed for the whole nation and within regions using multiple regression analysis. The F ST presented a clinal distribution with the highest values in the north and west of the country, while SDEI expressed the opposite behaviour. A negative and significant correlation was observed between F ST and SDEI, accounting for 46% of the variation in consanguinity in Argentina. The strongest correlations of F ST with SDEI were observed in the Central, Patagonia and Cuyo regions, i.e. those with the highest values of SDEI and lowest values of F ST.

Distribution of polymorphisms in the CYP2C9 gene and CYP2C19/CYP2C9 haplotypes among Venezuelan populations.

BACKGROUND: Polymorphisms with decreased enzyme activity of their gene products have been reported in region CYP2C with population variations in haplotype structure. AIM: To estimate the allelic and genotypic frequencies of variants CYP2C9*2 and CYP2C9*3 and of CYP2C9/CYP2C19 haplotypes in Venezuelan populations. SUBJECTS AND METHODS: Six hundred and thirty-four individuals from nine admixed populations (AP) and the Warao indigenous group were studied. Allelic frequencies, linkage disequilibrium and genetic distances for haplotypes were calculated and compared within Venezuela and with data available in the literature. RESULTS: Heterogeneity in the distribution of CYP2C9 alleles and CYP2C9/CYP2C19 haplotypes among the AP and the Warao was observed. The joint frequency of haplotypes, with at least one non-functional variant, shows values in AP between 21-41%, while in Warao it reaches 5%. The haplotype that includes the Asian and rare Latin America CYP2C19*3 allele was detected in most AP and in Warao. Pairwise Fst values showed that the Warao was an outlier compared with the AP, while these are closer to European-derived populations. No significant correlation was found between haplotype frequencies and admixture. CONCLUSIONS: These results support the need to understand the distribution of genomic biomarkers related to the metabolism of drugs, for planning national public health strategies.

Isonymic Relations in the Bolivia-Argentina Border Region.

When migrating, people carry their cultural and genetic history, changing both the transmitting and the receiving populations. This phenomenon changes the structure of the population of a country. The question is how to analyze the impact on the border region. A demographic and geopolitical analysis of borders requires an interdisciplinary approach. An isonymic analysis can be a useful tool. Surnames are part of cultural history, sociocultural features transmitted from ancestors to their descendants through a vertical mechanism similar to that of genetic inheritance. The analysis of surname distribution can give quantitative information about the genetic structure of populations. The isonymic relations between border communities in southern Bolivia and northern Argentina were analyzed from electoral registers for 89 sections included in four major administrative divisions, two from each country, that include the international frontier. The Euclidean and geographic distance matrices where estimated for all possible pairwise comparisons between sections. The average isonymic distance was lower between Argentine than between Bolivian populations. Argentine sections formed three clusters, of which only one included a Bolivian section. The remaining clusters were exclusively formed by sections from Bolivia. The isonymic distance was greater along the border. Regardless of the intense human mobility in the past as in the present, and the presence of three major transborder conurbations, the Bolivian-Argentine international boundary functions as a geographical and administrative barrier that differentially affects the distribution and frequency of surnames. The observed pattern could possibly be a continuity of pre-Columbian regional organization.

Surnames in Honduras: A study of the population of Honduras through isonymy.

In this work, we investigated surname distribution in 4,348,021 Honduran electors with the aim of detecting population structure through the study of isonymy in three administrative levels: the whole nation, the 18 departments, and the 298 municipalities. For each administrative level, we studied the surname effective number, α, the total inbreeding, FIT , the random inbreeding, FST , and the local inbreeding, FIS . Principal components analysis, multidimensional scaling, and cluster analysis were performed on Lasker's distance matrix to detect the direction of surname diffusion and for a graphic representation of the surname relationship between different locations. The values of FIT , FST , and FIS display a variation of random inbreeding between the administrative levels in the Honduras population, which is attributed to the "Prefecture effect." Multivariate analyses of department data identified two main clusters, one south-western and the second north-eastern, with the Bay Islands and the eastern Gracias a Dios out of the main clusters. The results suggest that currently the population structure of this country is the result of the joint action of short-range directional migration and drift, with drift dominating over migration, and that population diffusion may have taken place mainly in the NW-SE direction.

Surnames in Albania: a study of the population of Albania through isonymy.

In order to describe the isonymic structure of Albania, the distribution of 3,068,447 surnames was studied in the 12 prefectures and their administrative subdivisions: the 36 districts and 321 communes. The number of different surnames found was 37,184. Effective surname number for the entire country was 1327, the average for prefectures was 653.3 ± 84.3, for districts 365.9 ± 42.0 and for communes 122.6 ± 8.7. These values display a variation of inbreeding between administrative levels in the Albanian population, which can be attributed to the previously published "Prefecture effect". Matrices of isonymic distances between units within administrative levels were tested for correlation with geographic distances. The correlations were highest for prefectures (r = 0.71 ± 0.06 for Euclidean distance) and lowest for communes (r = 0.37 ± 0.011 for Nei's distance). The multivariate analyses (Principal component analysis and Multidimensional Scaling) of prefectures identify three main clusters, one toward the North, the second in Central Albania, and the third in the South. This pattern is consistent with important subclusters from districts and communes, which point out that the country may have been colonised by diffusion of groups in the North-South direction, and from Macedonia in the East, over a pre-existing Illiryan population.

A study of the population of Paraguay through isonymy.

In order to describe the isonymic structure of Paraguay, the distribution of 4,843,868 surnames of 2,882,163 persons was studied in the 18 departments and 237 districts of the nation. The correlations between isonymic and geographic distances for departments were r = 0.713 ± 0.052 for Euclidean distance, 0.597 ± 0.074 for Nei's and 0.582 ± 0.076 for Lasker's, and for districts r = 0.320 ± 0.007, 0.235 ± 0.009 and 0.422 ± 0.008, respectively. Average α was 151 for the entire country, 140.6 ± 6.5 for departments and 108.2 ± 2.7 for districts. The geographical distribution of districts'α is compatible with the settlement of subsequent groups of migrants moving from South towards the Centre and North of Paraguay. The geographical analysis of the first three components of Lasker's isonymy distance matrix is in agreement with such a process. The prevalence of Spanish-Amerindian ethnic groups and the relative absence of indigenous surnames (absence due mainly to the forced surname change of 1848) is in agreement with the diffusion of Spanish speaking males over a low-density area populated by indigenous groups. The present distribution of Y-markers and mt-markers in the available studies in most Latin American populations is compatible with this process.

Surnames in Bolivia: a study of the population of Bolivia through isonymy.

In Bolivia, the Hispanic dual surname system is used. To describe the isonymic structure of Bolivia, the surname distribution of 12,139,448 persons registered in the 2006 census data was studied in 9 districts and 112 provinces of the nation, for a total of 23,244,064 surnames. The number of different surnames found was 174,922. Matrices of isonymic distances between the administrative units (districts and provinces) were constructed and tested for correlation with geographic distance. In the 112 provinces, isonymic distances were correlated with geographic distance (r = 0.545 ± 0.011 for Euclidean, 0.501 ± 0.012 for Nei's, and 0.556 ± 0.010 for Lasker's distance). The multiple regression of the surname effective number (α), equivalent to the allele effective number in a genetic system, was nonsignificant on latitude and longitude; however, it was highly significant and negative on altitude (r = -0.72). Because the Andes extend from north to south in west-central Bolivia, random inbreeding was lowest in the eastern districts, and highest in mountainous western Bolivia. Average α for the provinces was 122 ± 2; for the districts, it was 216 ± 29, and for the whole of Bolivia it was 213. The geographical distribution of α in the provinces is compatible with the settlement of subsequent groups of migrants moving from east and north toward the center and south of Bolivia. The relative frequency of indigenous surnames is correlated positively with altitude. This suggests that the country was populated by recent low-density demic diffusion over a low-density indigenous population. This may have been a common phenomenon in the immigration to tropical South America.

Isonymy structure of Buenos Aires city.

The isonymy structure of Buenos Aires was studied based on its surname frequency. Information on 2,552,359 voters of the 28 Buenos Aires districts was used to estimate Lasker's coefficient of relationship by isonymy (R(i)), surname diversity according to Fisher's alpha, the coefficient of consanguinity resulting from random isonymy (F), and Nei's, Lasker's and the Euclidean isonymy distances. These distances were correlated with geographic distances, which were calculated by assigning an arbitrary point to each district and measuring distances on a map of the city. The R(i) x 10(5) and F x 10(4) averages of the districts located south of Rivadavia Avenue were higher (R(i) = 66.08; F = 3.4) than those situated north of that avenue (R(i) = 46.60; F = 2.4) (p < 0.001). Fisher's alpha showed the opposite behavior (north, alpha = 1,055.5; south, alpha = 757.2). There was a significant correlation (p < 0.001) between geographic distance and Nei's and the Euclidean distances (0.496 and 0.503, respectively), but the correlation was not significant for Lasker's distance (0.051). These results indicate isolation by distance in the city of Buenos Aires and reveal subdivision of the metropolitan population, with greater consanguinity and a lesser variety of surnames in the districts located in the southern section of the city. This structure agrees with the fragmentation and social, cultural, and economic differences observed among the districts of this Latin American metropolis.

[Influence of genetic factors on human sexual orientation. Review]. / Influencia de factores genéticos sobre la orientación sexual humana. Una revisión.

Human sexual orientation is a complex trait, influenced by several genes, experiential and sociocultural factors. These elements interact and produce a typical pattern of sexual orientation towards the opposite sex. Some exceptions exist, like bisexuality and homosexuality, which seem to be more frequent in males than females. Traditional methods for the genetic study of behavior multifactorial characteristics consist in detecting the presence of familial aggregation. In order to identify the importance of genetic and environmental factors in this aggregation, the concordance of the trait for monozygotic and dizygotic twins and for adopted sibs, reared together and apart, is compared. These types of studies have shown that familial aggregation is stronger for male than for female homosexuality. Based on the threshold method for multifactorial traits, and varying the frequency of homosexuality in the population between 4 and 10%, heritability estimates between 0.27 and 0.76 have been obtained. In 1993, linkage between homosexuality and chromosomal region Xq28 based on molecular approaches was reported. Nevertheless, this was not confirmed in later studies. Recently, a wide search of the genome has given significant or close to significant linkage values with regions 7q36, 8p12 and 10q26, which need to be studied more closely. Deviation in the proportion of X chromosome inactivation in mothers of homosexuals seems to favor the presence of genes related with sexual orientation in this chromosome. There is still much to be known about the genetics of human homosexuality.

[Changes in serum lipids, plasma fibrinogen and other haemostatic parameters induced by ciprofibrate action in hyperlipidemic patients with and without coronary artery disease]. / Modificaciones de los lipidos séricos, el fibrinógeno y otros parámetros hemostáticos por acción del ciprofibrato, en pacientes hiperlipidémicos con y sin enfermedad arterial coronaria.

The effects of drugs with hypolipidemic properties in the prevention of the atherothrombotic vascular disease, go further than reducing serum lipids, suggesting that there are other nonlipid-related mechanisms involved; the maintenance of appropriate haemostatic balance being one of them. The objective of this investigation was a drug intervention with ciprofibrat in hyperlipidemic people with high level of plasmatic fibrinogen with the purpose of knowing the effects of the drug over these risk factors and other haemostatic parameters. Forty people, both sexes, 20 of them apparently healthy and the other 20 with clinical and angiographic evidence of coronary artery disease, were randomized to receive 100 mg of ciprofibrat or placebo during an average of 56 weeks. All of them had a clinical exam, EKG and stress test. Laboratory exams included lipid profile, plasma fibrinogen (Fg), VII factor, vonWillebrand factor, protein C (PC) and the tissue plasminogen activator with samples taken every 8 weeks. The Ciprofibrat group showed significant changes of lipids: cholesterol -23%, triglycerides -31%, high-density lipoprotein (HDLc) +24% and very low-density lipoprotein -23%, except low-density lipoprotein -24%. The haemostatic parameters in 40 weeks showed that Fg decreased 21% (p = 0.001), decreasing to 9% at the end of the follow-up. In the placebo group the HDLc showed a 10% increase (p = 0.02), PC reduced to 20% (p = 0.01) and Fg kept blood levels close to basal line, descending 10% at the end of the follow-up. In this study, the use of ciprofibrat in patients with high risk of developing atherothrombotic events, showed efficiency and security in handling hyperlipidemia, such as keeping and appropriate haemostatic balance.

LEP, LDLR and APOA4 gene polymorphisms and their relationship with the risk of overweight, obesity and chronic diseases in adults of the State of Sucre, Venezuela.

INTRODUCTION: Overweight, obesity and some chronic diseases have become more prevalent recently. It is well known that their causes may be genetic, epigenetic, environmental, or a mixture of these.  OBJECTIVE: To analyze the relationship between nine single nucleotide polymorphisms of genes LEP (rs2167270), LDLR (rs885765, rs688, rs5925, rs55903358, rs5742911) and APOA4 (rs5095, rs675, rs5110) with obesity-related phenotypes and other comorbidities.  MATERIAL AND METHODS: We recruited 144 adults (76 males and 68 females, with average ages of 29.93±8.29 and 32.49±11.15 years, respectively) in the State of Sucre, Venezuela. Clinical and anthropometric parameters were obtained. Genotype-risk associations were studied. We then compared the averages registered for anthropometric and biochemical variables previously adjusted for biological and environmental factors.  RESULTS: According to the body mass index, 38.9% of the individuals in the sample were overweight (25≤BMI≤29.9 kg/m2) and 20.1% were obese (BMI≥30 kg/m2). Genotype and allele frequencies did not differ statistically for groups with normal and high body mass index (overweight plus obesity). The association between LDLR rs5742911 ancestral genotype A/A and high risk condition related to HDL-cholesterol was the only one found to be significant (OR=2.944, 95% CI: 1.446-5.996; p=0.003). The difference in adjusted mean HDL-cholesterol for LDLR rs5742911 genotypes was statistically significant (p=0.005) (A/A: 41.50±14.81 mg/dL; A/G: 45.00±12.07 mg/dL; G/G: 47.17±9.43 mg/dL).  CONCLUSIONS: For most of the genetic variants studied, there was an association with the presence of overweight and obesity among ancestral genotype carriers, although this was not statistically significant. The rs5742911 polymorphism may be useful as an indicator of a risk of chronic diseases.

[Relation of socioeconomic levels and life style to fibrinogen and von Willebrand factor in healthy Venezuelans and those with ischemic cardiopathy]. / Relación entre el nivel socioeconómico y hábitos de vida, con el fibrinógeno y el factor von Willebrand en venezolanos sanos y con cardiopatía isquémica.

Previous studies in Europe, U.S.A and Japan have revealed an inverse relationship between socioeconomic levels and fibrinogen concentration. Similar results have been reported in a smaller number of studies for concentrations of von Willebrand factor. In this opportunity we present results on the relationship between smoking, drinking, physical activity, age and socioeconomic level on fibrinogen and von Willebrand factor concentrations in a Venezuelan sample. The control population consisted of 978 men and 968 women. Patients with coronary heart disease were 172 males and 78 females. The presence of one or more of the following conditions: smoking or less than 5 years of having quit, non drinkers or drinking in excess, and a reduced physical activity, was considered a health related risk factor for high levels of these two haemostatic variables. Our results indicate that in Controls, the socioeconomic level had a significant effect on fibrinogen and von Willebrand factor levels, only in women: those of lower socioeconomic levels had the highest concentrations. This difference was maintained when age was taken into account. Health related behaviors had no significant effect on either variable. In patients, age had no effect on either variable. The health behavior risk factor had a significant effect only on fibrinogen of male patients, and socioeconomic level had a significant effect only on the fibrinogen of female patients. More studies in Venezuela are recommended, in order to increase our knowledge on the relationship between socioeconomic levels, haemostatic markers and the occurrence of coronary heart disease.

Surname frequency and the isonymy structure of Venezuela.

Isonymy in Venezuela was studied analyzing the surnames of 3.9 million adults 40 years and older, selected from the register of electors updated in 1991. The electors were not differentiated by sex and represented all 22 states of Venezuela and its Federal District. The states of Nueva Esparta, an island, and Mérida, in the Venezuelan Andes, have the highest coefficients of microdifferentiation (R(ST)) and of inbreeding due to random isonymy. The states of Miranda, Aragua, Carabobo, and the Federal District, which includes the capital, Caracas, or are very close to it, had the lowest R(ST) values. The weighted averages of Fisher's alpha, a measure of surname abundance, varied by state from 43 in Nueva Esparta to 226 in Miranda, with a value of 210 for the entire country, much smaller than those observed in Switzerland, Germany, or Italy (2,396, 2,855, and 5,855, respectively). The fact that 32% of the total Venezuelan sample has only 40 surnames easily accounts for this small alpha. The correlation between the Euclidean distance and the log of geographic distance between the capital cities of states in km is high and significant (r = 0.78). The dendrogram built with the Euclidean distance matrix indicates the presence of three main clusters. One is formed by 10 states located in the western-central part of the country. The states of Zulia and Falcón join this cluster at a distance of 0.54 Euclidean units. A second cluster is formed by Barinas and the three Andean states. After combining these two, a third cluster joins them, formed by six Eastern states. Finally, the state of Amazonas enters the dendrogram at a distance of 0.66 units. Am. J. Hum. Biol. 12:352-362, 2000. Copyright 2000 Wiley-Liss, Inc.

Random inbreeding, isonymy, and population isolates in Argentina.

Population isolates are an important tool in identifying and mapping genes of Mendelian diseases and complex traits. The geographical identification of isolates represents a priority from a genetic and health care standpoint. The purpose of this study is to analyze the spatial distribution of consanguinity by random isonymy (F ST) in Argentina and its relationship with the isolates previously identified in the country. F ST was estimated from the surname distribution of 22.6 million electors registered for the year 2001 in the 24 provinces, 5 geographical regions, and 510 departments of the country. Statistically significant spatial clustering of F ST was determined using the SaTScan V5.1 software. F ST exhibited a marked regional and departamental variation, showing the highest values towards the North and West of Argentina. The clusters of high consanguinity by random isonymy followed the same distribution. Recognized Argentinean genetic isolates are mainly localized at the north of the country, in clusters of high inbreeding. Given the availability of listings of surnames in high-capacity storage devices for different countries, estimating F ST from them can provide information on inbreeding for all levels of administrative subdivisions, to be used as a demographic variable for the identification of isolates within the country for public health purposes.

Activity and levels of factor XIII in a Venezuelan admixed population: association with rs5985 (Val35Leu) and STR F13A01 polymorphisms.

INTRODUCTION: The single nucleotide polymorphism Val35Leu has been described within the A subunit of gene Factor XIII (FXIII-A) in association with an increase of FXIII activity. In the gene's promoter region STR F13A01 is present, however there is no available data related about its influence on the expression of FXIII. MATERIALS AND METHODS: Blood samples were obtained from apparently healthy and unrelated biologically individuals from northeastern area of Venezuela. The system Val35Leu was amplified by PCR-RFLP using MseI as restriction enzyme. FXIIIA and FXIIIB levels were measured by rocket- immunoelectrophoresis. FXIII activity was measured with a Berichrom kit and fibrinogen by clot weigh method. RESULTS: FXIII-A had an activity range between 50-184% and FXIII-B between 50-155%. FXIII activity had a range of 59-147%. Fibrinogen was found between 122-502 mg/dL. None of these values showed association with Val35Leu genotypes. In the third fibrinogen tertile a higher FXIII activity was found (96 ± 24%) and a higher frequency of Leu/Leu genotype (7.02%). A significant correlation between fibrinogen and FXIII activity (r = 0.2706, p > 0.01) was observed. Nine different alleles were detected in the STR polymorphism, with the most frequent alleles being 7 (24.70%), 6 (15.06%), 5 (22.29%), 4 (18.07%), and 3.2 (13.25). The results suggest an increase in FXIII activity as the number of repetitions in F13A01 increased up to allele 5. CONCLUSIONS: This study offers new genetic information of FXIII activity and levels reference values from Venezuelan human population.

Polimorfismos de los genes LEP , LDLR , APOA4 y sus relaciones con el sobrepeso, la obesidad y el riesgo de enfermedades crónicas en adultos del estado Sucre, Venezuela / LEP , LDLR and APOA4 gene polymorphisms and their relationship with the risk of overweight, obesity and chronic diseases in adults of the State of Sucre, Venezuela

Introducción. La prevalencia del sobrepeso, la obesidad y algunas enfermedades crónicas no transmisibles ha aumentado; sus causas pueden ser genéticas, epigenéticas o ambientales, por lo cual es importante evaluar la variabilidad en estas interacciones. Objetivo. Analizar las relaciones entre nueve polimorfismos de nucleótido simple de los genes LEP (rs2167270), LDLR (rs885765, rs688, rs5925, rs55903358, rs5742911) y APOA4 (rs5095, rs675, rs5110), y los fenotipos asociados al sobrepeso, la obesidad y otras enfermedades concomitantes. Materiales y métodos. Se evaluaron parámetros clínicos y antropométricos en 144 sujetos del estado Sucre, Venezuela, 76 hombres y 68 mujeres , con medias de edad de 29,93±8,29 y 32,49±11,15 años, respectivamente. Se hizo la genotipificación de los polimorfismos seleccionados mediante enzimas de restricción; se estudiaron las asociaciones entre genotipo y riesgo, y se compararon los promedios de las medidas antropométricas y bioquímicas previamente ajustadas a variables biológicas y ambientales. Resultados. Según el índice de masa corporal (IMC), el 38,9 % de los individuos tenía sobrepeso (25=IMC=29,9 kg/m 2 ) y el 20,1 %, obesidad (IMC=30 kg/m 2 ) . Las frecuencias genotípicas y alélicas de los grupos con un índice de masa corporal normal y uno alto (sobrepeso y obesidad) resultaron similares. Solo se encontró asociación entre el genotipo ancestral A/A del rs5742911 y el riesgo alto por los niveles de la lipoproteína de alta densidad o colesterol HDL (OR=2,944, IC 95% 1,446-5,996; p=0,003). La diferencia entre los promedios corregidos de colesterol HDL para los genotipos del rs5742911 resultó significativa (p=0,005) (A/A: 41,50±14,81 mg/dl; A/G: 45,00±12,07 mg/dl; G/G: 47,17±9,43 mg/dl). Conclusión. En la mayoría de las variantes genéticas estudiadas, se registró la asociación con el sobrepeso y la obesidad de los genotipos ancestrales, aunque sin ser significativa. El polimorfismo rs5742911 podría resultar útil como indicador del riesgo de enfermedades crónicas.

Introduction: Overweight, obesity and some chronic diseases have become more prevalent recently. It is well known that their causes may be genetic, epigenetic, environmental, or a mixture of these. Objective: To analyze the relationship between nine single nucleotide polymorphisms of genes LEP (rs2167270) , LDLR (rs885765, rs688, rs5925, rs55903358, rs5742911) and APOA4 (rs5095, rs675, rs5110) with obesity-related phenotypes and other comorbidities. Material and methods: We recruited 144 adults (76 males and 68 females, with average ages of 29.93±8.29 and 32.49±11.15 years, respectively) in the State of Sucre, Venezuela. Clinical and anthropometric parameters were obtained. Genotype-risk associations were studied. We then compared the averages registered for anthropometric and biochemical variables previously adjusted for biological and environmental factors. Results: According to the body mass index, 38.9% of the individuals in the sample were overweight (25=BMI=29.9 kg/m 2 ) and 20.1% were obese (BMI=30 kg/m 2 ). Genotype and allele frequencies did not differ statistically for groups with normal and high body mass index (overweight plus obesity). The association between LDLR rs5742911 ancestral genotype A/A and high risk condition related to HDL-cholesterol was the only one found to be significant (OR=2.944, 95% CI: 1.446-5.996; p=0.003). The difference in adjusted mean HDL-cholesterol for LDLR rs5742911 genotypes was statistically significant (p=0.005) (A/A: 41.50±14.81 mg/dL; A/G: 45.00±12.07 mg/dL; G/G: 47.17±9.43 mg/dL). Conclusions: For most of the genetic variants studied, there was an association with the presence of overweight and obesity among ancestral genotype carriers, although this was not statistically significant. The rs5742911 polymorphism may be useful as an indicator of a risk of chronic diseases.

Admixture estimates based on ABO, Rh and nine STRs in two Venezuelan regions.

BACKGROUND: The Venezuelan population is the product of Native American, African and European admixture. Few admixture studies have been made in Venezuela using short tandem repeats (STRs). AIM: The study estimated the contribution of each parental group in two Venezuelan regions: the Northern-Central and the Central-Western Regions. SUBJECTS AND METHODS: Frequencies for ABO and Rh were estimated by maximum likelihood, and by direct count for nine STRs, for 211 individuals. Admixture was estimated using Chakraborty's gene identity method. Neighbour-joining dendrograms were obtained with Nei's DS distance calculated between the two regions, the parental populations and other Venezuelan and Latin American populations. A principal component analysis (PCA) was also performed. RESULTS: For the Northern-Central Region, the estimate of admixture was 37.7% for the European component, 37.7% for the African and 24.6% for the Native American. For the Central-Western region, the estimate of admixture was 58.5% for the European, 16.5% for the African and 25.0% for the Native American component. CONCLUSIONS: (i) All systems were in Hardy-Weinberg equilibrium, except the Rh blood group of the Central-Western Region; (ii) the European contribution is high in both groups; (iii) in the dendrogram and PCA, the studied populations appear close to other admixed populations, and their relative position with regard to the three parental populations coincides with the admixture analysis.

Surnames in Western Europe: a comparison of the subcontinental populations through isonymy.

We studied the isonymic structure of Western Europe using the distributions of 26.2 million surnames in 8 countries, 125 regions and 2094 towns of the Subcontinent. We found that, for the whole of Western Europe, Nei's distance was correlated with geographic distance (r=0.610+/-0.009). It was observed that at long geographic distances the isonymyc distance stays below linearity and tends to become asymptotic, and this was attributed to long distance migration. A dendrogram of the125 regions was built and the clusters identified by the dendrogram are almost exactly coincident with the nations of the Subcontinent. Random inbreeding calculated from isonymy, F(ST), was highest in Spanish regions, and lowest in France. The geographical distribution of alpha in 2094 towns, high in the Center and East of the Subcontinent and lower in Spain, is compatible with the settlement of subsequent waves of migrants moving from the West and from the South toward the centre of the Continent. The present surname structure of Western Europe is strictly linked to local languages.

Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers.

The present Venezuelan population is the product of admixture of Amerindians, Europeans, and Africans, a process that was not homogeneous throughout the country. Blood groups, short tandem repeats (STRs), mtDNA, and Y-chromosome markers have been used successfully in admixture studies, but few such studies have been conducted in Venezuela. In this study we aim to estimate the admixture components of samples from two different socioeconomic levels from Caracas, Venezuela's capital city, compare their differences, and infer sexual asymmetry in the European Amerindian union patterns. Gene frequencies for blood groups ABO and Rh (CDE) and for the STRs VWA, F13A01, and FES/FPS and mtDNA and Y-chromosome haplogroups were studied in a sample of 60 individuals living in Caracas, taken from a private clinic (high socioeconomic level), and 50 individuals, also living in Caracas, drawn from a public maternity clinic (low socioeconomic level). The admixture analysis for the five autosomal markers gives a high European component (0.78) and an almost negligible African sub-Saharan component (0.06) for the high socioeconomic level, whereas for the low socioeconomic level the sub-Saharan, European, and Amerindian components were 0.21, 0.42, and 0.36, respectively. Estimates of admixture based on mtDNA and Y-chromosome markers reveal that the Amerindian contribution to these Caracas samples is almost entirely through females, because the Y-chromosome Amerindian and African sub-Saharan chromosomes found in this study were scarce. Our study reveals that the identification of the grandparents' geographic origin is an important methodological aspect to take into account in genetic studies related to the reconstruction of historical events.

Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample.

The frequency of the C282Y, H63D and S65C alleles of the HFE gene was determined in a sample of the Venezuelan population. Two new sets of primers were tested for amplifying the regions mapping these mutations, and genotyping was performed by restriction fragment length polymorphism (RFLP). DNA sequencing was used to validate the RFLP analysis. Serum ferritin levels were also determined. Two hundred and fourteen individuals were tested, extracting DNA from whole blood cells (n=177) or from serum (n=37). The frequency of heterozygous subjects was 3.7, 18.2 and 1.7% for the C282Y, H63D and S65C mutations, respectively, and the allele frequencies were 0.019+/-0.01 for C282Y, 0.119+/-0.016 for H63D and 0.009+/-0.005 for S65C. The results suggest that the admixture of native populations with subjects of South European origin might have had an important role in the diffusion of HFE alleles in Venezuela. C282Y homozygous subjects were not found in this study. No HFE genotype studied here was associated with a significant elevation of serum ferritin concentrations, except for C282Y/H63D compound heterozygote found in one asymptomatic male. This finding supports the theory that the H63D mutation could be involved in alterations of iron parameters when inherited together with C282Y. Our results indicate that C282Y homozygotes will be rarely detected. Performance of HFE mutation analysis in individuals with high iron determinations would be recommended.