Search

Catholicism and Protestantism have different ways of promoting the family unit that could influence survival and fertility at a population level. Parish records in the Austrian village of Hallstatt allowed the reconstruction of Catholic and Protestant genealogies over a period of 175 years (1733–1908) to evaluate how religion and social changes affected reproduction and survival. Life history traits such as lifespan beyond 15 years, number of offspring, reproductive span, children born out of wedlock and child mortality were estimated in 5678 Catholic and 3282 Protestant individuals. The interaction of sex, time and religion was checked through non-parametric factorial ANOVAs. Religion and time showed statistically significant interactions with lifespan >15 years, number of offspring and age at birth of first child. Protestants lived longer, had a larger reproductive span and an earlier age at birth of first child. Before the famine crisis of 1845–1850, Protestants showed lower values of childhood mortality than Catholics. Comparison of the number of children born out of wedlock revealed small differences between the two religions. Religion influenced reproduction and survival, as significant differences were found between Catholics and Protestants. This influence could be explained in part by differential socioeconomic characteristics, since Protestants may have enjoyed better living and sanitary conditions in Hallstatt.

BACKGROUND There were gaps between guidelines and practice when surgery was the only treatment for aortic stenosis (AS). OBJECTIVES This study analyzed the decision to intervene in patients with severe AS in the EORP VHD (EURObservational Research Programme Valvular Heart Disease) II survey. METHODS Among 2,152 patients with severe AS, 1,271 patients with high-gradient AS who were symptomatic fulfilled a Class I recommendation for intervention according to the 2012 European Society of Cardiology guidelines; the primary end point was the decision for intervention. RESULTS A decision not to intervene was taken in 262 patients (20.6%). In multivariate analysis, the decision not to intervene was associated with older age (odds ratio [OR]: 1.34 per 10-year increase; 95% CI: 1.11 to 1.61; P = 0.002), New York Heart Association functional classes I and II versus III (OR: 1.63; 95% CI: 1.16 to 2.30; P = 0.005), higher age adjusted Charlson comorbidity index (OR: 1.09 per 1-point increase; 95% CI: 1.01 to 1.17; P = 0.03), and a lower transaortic mean gradient (OR: 0.81 per 10-mm Hg decrease; 95% CI: 0.71 to 0.92; P < 0.001). During the study period, 346 patients (40.2%, median age 84 years, median EuroSCORE II [European System for Cardiac Operative Risk Evaluation II] 3.1%) underwent transcatheter intervention and 515 (59.8%, median age 69 years, median EuroSCORE II 1.5%) underwent surgery. A decision not to intervene versus intervention was associated with lower 6-month survival (87.4%; 95% CI: 82.0 to 91.3 vs 94.6%; 95% CI: 92.8 to 95.9; P < 0.001). CONCLUSIONS A decision not to intervene was taken in 1 in 5 patients with severe symptomatic AS despite a Class I recommendation for intervention and the decision was particularly associated with older age and combined comorbidities. Transcatheter intervention was extensively used in octogenarians. (J Am Coll Cardiol 2021;78:2131-2143) (c) 2021 by the American College of Cardiology Foundation.

Background: Genetic variation in glucuronosyltransferases (UGT) is crucial in drug metabolism and risk of some diseases. Aim: To examine genetic variation in UGT in North African populations. Subjects and methods: Allele frequencies of SNPs UGT1A424Thr, UGT1A448Val, UGT2B1585Tyr, UGT2B15523Thr and UGT2B17 CNV deletion from Morocco, Algeria, Tunisia and Libya were compared to European and Sub-Saharan populations. Results: North Africans are the group with the highest genetic heterogeneity given by internal differences in the occurrence of UGT2B17 deletion, UGT1A448Val and UGT1A4 haplotypes. UGT2B15 SNPs differentiate Sub-Saharans from the rest of the populations. Conclusion: North African populations show a high frequency of carriers of UGT2B15523Thr, a variant linked to an increased risk of prostate cancer. High Atlas Moroccans and Algerians show low frequency of UGT2B17del, a variant associated with high concentrations of testosterone and oestradiol. This work was financed by the grant ‘Ajut per potenciar sin􀀁���ergies en recerca’ awarded by the Faculty of Biology, University of Barcelona (2016 and 2017), the project 2016/UEM 39 of the Universidad Europea de Madrid, and by the 2017 SGR 1630 Grup de Recerca en Antropologia Biol􀀁���ogica (GREAB). 1.588 JCR (2018) Q2, 26/90 Anthropology; Q3, 84/164 Public, Environmental & Occupational Health, 51/87 Biology 0.616 SJR (2018) Q2, 208/562 Public Health, Environmental and Occupational Health; Q3, 67/106 Epidemiology, 112/188 Physiology, 226/351 Genetics, 23/36 Aging No data IDR 2018 UEM

BACKGROUND Tandem repeats (STRs) are genomic markers of particular interest in forensic and population genetics. Most of the population data currently available correspond to the variation of STRs of forensic panels, which barely include dinucleotide tandem repeats. AIMS The aim of the study is to test the usefulness of a battery of dinucleotide STRs on the X chromosome for population and forensic studies. SUBJECTS AND METHODS A total of 672 individuals from 12 Mediterranean populations and two external references were analysed for 15 X-STR following the instructions of the commercial company and using control DNA from the CEPH centre whose sequences are published in GenBank. Genotypic results were analysed using standard population genetics methods including estimates of linkage disequilibrium, population structure and gene flow. Common forensic efficiency parameters were calculated. RESULTS The analysed X-STRs show high values of genetic diversity, comparable to other STRs of more common use. No significant associations between markers were found. A slight population structure was detected between the two shores of the Mediterranean. The X-STRs studied here present a similar degree of variability to that of other X-STRs used in forensics. CONCLUSION Tandem-repeated dinucleotides are a good tool for evidencing population differences here. Forensic parameters indicate that the dinucleotide X-STRs are suitable for forensic use.

Bahia Blanca is an urban city in a historically and geographically strategic location for the mixture of different populations in Argentina. In the present study, 10 Alu elements from the X chromosome are analyzed to characterize the genetic composition of the city's population, to compare it with other worldwide populations, and to explore the usefulness of X-chromosome markers for human population genetics purposes. In the Bahia Blanca sample, 7 of 10 Alu insertion frequencies are polymorphic. X-chromosome Alu results in Bahia Blanca are compared with eight different populations from Africa, Europe, and America. Genetic distance analysis indicates that the Bahia Blanca sample is closer to the European and North African samples (average distances of 0.106 and 0.113) than to the Native American (0.163) and sub-Saharan African samples (0.247). Genetic relationships shown by multidimensional scaling illustrate the intermediate position of Bahia Blanca compared with groups in other regions (European, Native American, and African). Admixture results of the Bahia Blanca sample for X-chromosome markers indicate similar proportions of Native American (0.472) and European parental contributions (0.479) and a minor sub-Saharan African contribution (0.049). These results are consistent with the past decade's genetic studies of Argentinean populations that reported higher Native American and sub-Saharan African contributions than previous data.

Objectives Traditional interpretation of Fisher's Fundamental Theorem of Natural Selection is that life history traits (LHT), which are closely related with fitness, show lower heritabilities, whereas morphological traits (MT) are less related with fitness and they are expected to show higher heritabilities. In humans, although few studies have examined the heritability of LHT and MT, none of them have analyzed the same sample for comparative purposes. Here we assessed, for the first time, the heritability, additive genetic variance (VA), residual variance (VR) and coefficient of genetic additive variation (CVA) values of LHT and MT in a singular collection of identified skulls with associated demographic records from Hallstatt (Austria). Materials and Methods LHT, such as lifespan, number of offspring, age at birth of first and last child, reproductive span, and lifetime reproductive success, were estimated from 18,134 individuals from the Hallstatt Catholic parish records, which represent seven generations and correspond to a time span of 400 years. MT were assessed through 17 craniofacial indices and 7 angles obtained from 355 adult crania from the same population. Heritability, VA, VR, and CVA values of LHT and MT were calculated using restricted maximum likelihood methods. Results LHT heritabilities ranged from 2.3 to 34% for the whole sample, with men showing higher heritabilities (4–45%) than women (0-23.7%). Overall, MT presented higher heritability values than most of LHT, ranging from 0 to 40.5% in craniofacial indices, and from 13.8 to 32.4% in craniofacial angles. LHT showed considerable additive genetic variance values, similar to MT, but also high environmental variance values, and most of them presenting a higher evolutionary potential than MT. Discussion Our results demonstrate that, with the exception of lifespan, LHT show lower heritability values, than MT. The lower heritability of LHT is explained by a higher influence of environmental and cultural factors.

It is thought that the ancient population of Libya was mainly composed of Saharan Berbers. Socio-geographic conditions and historical events have exerted some changes on the composition of the present-day Libyan population.To screen a set of autosomal Alu markers in a representative sample of the general Libyan population in order to study its ethnic and genetic structure and to re-examine its genetic relationships with Mediterranean and Middle Eastern groups.A sample of 190 Libyans was analysed for 17 Alu insertions. The sample was divided according to the Arabic or Berber origin of individuals' surnames.The current general Libyan population is homogeneous and shows considerable genetic diversity compared with other North Mediterranean and North African populations. It shows intermediate genetic distances between Moroccans, Algerians and Tunisians on one side and Egyptian Siwa Berbers on the other. No particular affinities with Middle Eastern groups were detected.Alu insertions are useful markers to contribute to the reconstruction of human population history at a microgeographic scale, in particular when the analyses include anthropologically well sampled populations. The present results provide new information to improve understanding some aspects of the complex peopling of North Africa.

Sixteen Y-chromosomal short tandem repeats (STRs) (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in DNA samples from 52 unrelated men and 15 autosomal STRs (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, vWA) were also studied for a group of 90 individuals (men and women) from the same population (Andalusians from La Alpujarra, South of Spain). The Alpujarrenian population represents an example of an isolated population with remarkable geographical, cultural and historical characteristics. High haplotype diversities were observed for the studied polymorphisms, 0.98 and 1 for YSTRs and autosomal STRs, respectively. Population comparisons for the autosomal STR allele distributions revealed remarkable levels of global homogeneity among samples geographically related. 1.713 JCR (2010) Q2, 37/86 Biology, 63/142 Public, environmental & occupational health

Among polymorphisms of non-transcribed DNA sequences and functional genes, those of Alu insertions and that of the APOE gene have been widely used to clarify the degree of genetic relationships between human populations.APOE gene and eight Alu insertion polymorphisms were investigated in Tunisians and compared with data from neighbour populations in order to gain new insights into the genetic position of Tunisia in the Mediterranean region.A total of 121 individuals from the North and Centre-South regions were sampled.No significant genetic differences were found between Tunisians and North Africans when samples representative of wide areas were considered. APOE gene variation seemed slightly less powerful than the Alu polymorphisms in detecting North-South Mediterranean differences.North African populations show a substantial degree of genetic homogeneity, which may reflect the similarity of their origins, mainly when samples from large geographical areas are compared. The relative genetic homogeneity of the whole Mediterranean region probably reflects a common origin and/or remarkable levels of gene flow. However, this gene flow has not yet erased the differentiation between the two Mediterranean shores, as revealed by Alu insertion polymorphisms.

OBJECTIVES The population analysis of cardiovascular risk and non-risk genetic variation can help to identify adaptive or random demographic processes that shaped coronary incidence variation across geography. MATERIAL AND METHODS In this study, 114 single nucleotide polymorphisms and 17 tandem repeat polymorphisms from Nitric Oxide Synthases (NOS) regions were analyzed in 1686 individuals from 35 populations from Europe, North Africa, and the Middle East. NOS genes encode for key enzymes on nitric oxide availability, which is involved in several cardiovascular processes. These genetic variations were used to test for selection and to infer the population structure of NOS regions. Moreover, we tested whether the variation in the incidence of coronary events and in the levels of classical risk factors in 11 of these European populations could be explained by the population structure estimates. RESULTS Our results supported, first, the absence of clear signs of selection for NOS genetic variants associated with cardiovascular diseases, and second, the presence of a continuous genetic pattern of variation across European and North African populations without a Mediterranean barrier for gene flow. Finally, population structure estimates from NOS regions are closely correlated with coronary event rates and classical risk parameters (explaining 39-98%) among European populations. CONCLUSION Our results reinforce the hypothesis that genetic bases of cardiovascular diseases and associated complex phenotypes could be geographically shaped by random demographic processes.

Based on the existing sex differences in mortality rates in children, we would like to explore whether girls and boys respond differently under severe health conditions, in terms of mortality and cause of admission.We analyzed demographic characteristics (age and sex), causes of admission, clinical parameters, and mortality in a sample of 2,609 patients from a Pediatric Intensive Care Unit (PICU) in a children's hospital in Barcelona, Spain.PICU admittance was significantly higher in boys (57.5% vs. 42.5%) whereas PICU mortality was significantly higher in girls (4.9% vs. 3.3%). Female sex was a risk factor for PICU in-hospital mortality (OR = 1.55, P = 0.033), while increasing age had a protective effect (OR = 0.808, P = 0.021). In cases of PICU mortality, girls died from a broader range of causes and boys were more affected by respiratory and polytraumatic injuries. Boys were affected by polytraumatic injuries throughout the year, less frequently in winter, while girls showed a higher occurrence in holiday months.Although more boys were admitted to the PICU, a significantly higher number of girls died. Younger age and higher occurrence of nosocomial infection among girls could explain this finding. More frequent polytraumatic injuries in boys could reflect an increased exposure to risky activities and/or more careless behavior.

Apolipoprotein E (apoE) gene polymorphism was analyzed by polymerase chain reaction in one Moroccan and six Spanish populations, a total of 660 individuals. No significant differences were observed between samples, and the mean relative frequencies (with 95% confidence intervals) found were 0.104 (0.069-0.139) for the epsilon4 allele, 0.855 (0.813-0.897) for epsilon3 and 0.041 (0.015-0.067) for epsilon2. Frequencies of the epsilon4 allele were low in comparison to Northern European populations, but similar to those reported for other South-European populations. The presence of a rare mutation, E2 Christchurch, in one Basque individual was confirmed by sequence analysis.

Jordan, located in the Levant region, is an area crucial for the investigation of human migration between Africa and Eurasia. However, the genetic history of Jordanians has yet to be clarified, including the origin of the Bedouins today resident in Jordan. Here, we provide new genetic data on autosomal independent markers in two Jordanian population samples (Bedouins and the general population) to begin to examine the genetic diversity inside this country and to provide new information about the genetic position of these populations in the context of the Mediterranean and Middle East area. The markers analyzed were 18 Alu polymorphic insertions characterized by their identity by descent, known ancestral state (lack of insertion), and apparent selective neutrality. The results indicate significant genetic diffferences between Bedouins and general Jordanians (p = 0.038). Whereas Bedouins show a close genetic proximity to North Africans, general Jordanians appear genetically more similar to other Middle East populations. In general, these data are consistent with the hypothesis that Bedouins had an important role in the peopling of Jordan and constitute the original substrate of the current population. However, migration into Jordan in recent years likely has contributed to the diversity among current Jordanian population groups.

Data on six protein polymorphisms (19 alleles) from the human population of Tenerife are presented and discussed along with other classical markers in relation to the origin of the Canarians. Genetic influences from three population groups were considered: the Iberians, and the Berbers and non-Berbers (Arabs) from north Africa. The systems examined show the Tenerife population lies within the limits of variation described for various Iberian groups, with a slight tendency towards the characteristics of north African populations. When blood groups, red cell enzymes and serum protein data were considered, the similarity of the Canary population to Iberians seems strengthened (70% estimated contribution of Iberian peninsula genes to the present-day Canarian pool), while some relation with north African groups is shown. Genetic distances between Canarians and Arabs and Canarians and Berbers are lower than those between the two north African groups, indicating a relative and comparable contribution of each to the present-day gene pool of the Canarian population. The Arab contribution could be attributable to the slaves who were introduced to these islands after the conquest in the 15th century, while the Berber contribution could be the remnants of the extinct aboriginal peoples of the islands (Guanches) or a more recent immigration due to slavery. Genetic data do not allow us to distinguish between these two possibilities.

Twelve autosomal and 8 X chromosome Alu markers were genotyped for the first time in 161 Central and West Yakuts to test their ability to reconstruct the genetic history of these populations, the northernmost Turkic-speaker ethnic group living in Siberia. Autosomal data revealed that both groups showed extremely close genetic distances to other populations of Siberian origins that occupied areas from Lake Baikal, the ancestral place of origin of Yakuts, to North Siberia, their current territories. Autosomal and X chromosome data revealed some discrepancies on the genetic differentiation and the effective sizes of Central and West Yakuts. Such discrepancies could be related to the patrilineal and occasionally polygamous structure of these populations. Autosomal and X Alu markers are informative markers to reconstruct population past demography and history, but their utility is limited by the available data. This study represents a contribution for further investigations on these populations. © 2013 E. Schweizerbart'sche Verlagsbuchhandlung, Stuttgart, Germany.

Background A total of 3,132 immigrants from low- and middle-income countries were involved in a cross-sectional observational study to screen for infectious diseases among immigrants attending public primary health care (PHC) centers. The study was conducted to clarify the degree of demographic differences and risk predictors of these diseases. Methods Demographic and clinical variables, screening for infectious diseases [hepatitis B and C, human immunodeficiency virus infection, syphilis, and tuberculosis (TB)], and analytical data (anemia, hematuria, and liver function) were recorded from immigrants attending a public PHC unit in Barcelona. Results Global hepatitis B, including chronic and previous, reached 18.1%; Morocco as the country of origin [odds ratio (OR) 2.1, 95% confidence interval (CI) 1.07–4.14] and gastrointestinal symptoms (OR 1.9, CI 1.18–3.02) were risk factors. Hepatitis C prevalence was 3.3% with elevated hepatic transaminase levels as a risk factor (OR 26.1, CI 8.68–78.37). Positive syphilis was 3.1%; latent and active TB rates were 28.1 and 5.8%, respectively. Concerning TB, we found remarkable differences both among WHO regions of origin (the Eastern Mediterranean region showed the highest rate of active TB, 8%) and the three categories of years of residence in Spain (6.5% for 5 years). Conclusions The data allowed recommendation of a minimal screening of TB in immigrants from low-income countries regardless of the years of residence in Spain, hepatitis C in patients with altered transaminase levels, and hepatitis B in patients with gastrointestinal symptoms and/or from Morocco.

The APOE/C1/C4/C2 gene cluster presents high relevance in lipid metabolism and, therefore, has important epidemiological implications. Here, we study for the first time the variation patterns of 25 polymorphisms (10 short tandem repeats, STRs, and 15 single nucleotide polymorphismas, SNPs) in two native Andean samples from Bolivia (45 Aymaras and 45 Quechuas) as well as one European sample (n = 41) as external reference. We estimated diversity parameters, linkage disequilibrium patterns, population structure, and possible selective effects. In general, diversity was low and could be partly attributed to selection (probably due to its physiological importance), since the APOE/C1/C4/C2 region was highly conserved compared to the flanking genes in both Bolivians and Europeans. Moreover, the lower gene diversity in Bolivians compared to Europeans for some markers might indicate different demographic histories. Regarding the APOE isoforms, in addition to ɛ3 (94%) and ɛ4 (5%), isoform ɛ2 (1%) was also detected in Bolivians. In relation to previous hypotheses, our results support that genetic drift or founder effects rather than selection for increased cholesterol absorption are the main factors that have shaped the distribution of APOE isoforms observed in South America.

Pattern types and quantitative finger dermatoglyphics have been analyzed in a Spanish population samples (141 males, 200 females) from the Mediterranean coast. For both dermatoglyphic traits sexual and bilateral differences were tested by means of Chi-square and Student's t-test. Concerning the pattern types the male samples show an intermediate position in the Spanish variation range, whereas the female sample differs from all the populations compared. In regard of the quantitative values the Delta de l'Ebre population is within the general range of ridge counts described for other Iberian samples. This is valid for both sexes.

Finger pattern types and pattern intensity index in 163 males and 184 females from the region of Murcia in southeast Spain show sex and bilateral differences. Comparison of the data with those from other Spanish populations reveal, that the Murcian male values are within the range of Spanish variation, whereas the female sample is characterized by extreme frequencies of arches (maximal) and whorls (minimal). This is significantly different from most of the populations compared.

Thirty-two polymorphic Alu insertions (18 autosomal and 14 from the X chromosome) were studied in 192 individuals from two Amerindian populations of the Bolivian Altiplano (Aymara and Quechua speakers: the two main Andean linguistic groups), to provide relevant information about their genetic relationships and demographic processes. The main objective was to determine from genetic data whether the expansion of the Quechua language into Bolivia could be associated with demographic (Inca migration of Quechua-speakers from Peru into Bolivia) or cultural (language imposition by the Inca Empire) processes. Allele frequencies were used to assess the genetic relationships between these two linguistic groups. Our results indicated that the two Bolivian samples showed a high genetic similarity for both sets of markers and were clearly differentiated from the two Peruvian Quechua samples available in the literature. Additionally, our data were compared with the available literature to determine the genetic and linguistic structure, and East–West differentiation in South America. The close genetic relationship between the two Bolivian samples and their differentiation from the Quechua-speakers from Peru suggests that the Quechua language expansion in Bolivia took place without any important demographic contribution. Moreover, no clear geographical or linguistic structure was found for the Alu variation among South Amerindians. Am. J. Hum. Biol., 2010. © 2009 Wiley-Liss, Inc.

Aim To analyze apolipoprotein gene polymorphisms in the Tunisian population and to check the relation of these polymorphisms and homocysteine, lipid and apolipoprotein levels to the coronary artery disease (CAD). Methods In healthy blood donors and in patients with CAD complicated by myocardial infarction (MI) four apolipoprotein gene polymorphisms [APO (a) PNR, APO E, APO CI and APO CII] were determined and plasma levels of total homocysteine, total cholesterol (TC), triglycerides (TG), HDL-cholesterol (HLD-C) and apolipoproteins (apo A-I, Apo B, Apo E) were measured. Results Analysis of the four apolipoprotein gene polymorphisms shows a relative genetic homogeneity between Tunisian population and those on the other side of Mediterranean basin. Compared to controls, CAD patients have significantly higher main concentrations of TC, TG, LDL-C, apo B and homocysteine, and significantly lower ones of HDL-C, apo A-I and apo E. The four apolipoprotein gene polymorphisms have not showed any significant differences between patients and controls. However, the APO E4 allele appears to be associated to the severity of CAD and to high levels of atherogenic parameters and low level of apo E, which has very likely an anti-atherogenic role. Conclusion Although APO (a) PNR, APO CI and APO CII genes are analyzed in only few populations, they show a frequency distribution, which is not at variance with that of APO E gene and other widely studied genetic markers. In the Tunisian population the APO E 4 appears to be only indirectly involved in the severity of CAD. In the routine practice, in addition of classic parameters, it will be useful to measure the concentration of apo E and that of Homocysteine and if possible to determine the APO E gene polymorphism.

The city of Bahia Blanca occupies a strategic place in Argentina south of the Pampean region in the north-east corner of the Patagonia. Since 1828, this city has been the historical and political border between Amerindian lands in the south, and the lands of European colonists. Nowadays, Bahia Blanca is an urban population mainly composed by descendents of immigrants from Spain and other European countries with apparently low admixture with Amerindians. In view of the unexpectedly high Amerindian admixture levels (about 46.7%) suggested by mtDNA data, and protein markers (19.5%), we analyzed a set of 19 Alu polymorphisms (18 autosomal, 1 of Chromosome Y) in a well-documented genealogical sample from Bahia Blanca. The genotyped sample was made up of 119 unrelated healthy individuals whose birth place and grandparent origins were fully documented. According to available genealogical records, the total sample has been subdivided into two groups: Bahia Blanca Original (64 individuals with all 4 gandparents born in Argentina) and Bahia Blanca Mix (55 individuals with one to three grandparents born out of Argentina). Allele frequencies and gene diversity values in Bahia Blanca fit well into the European ranges. Population relationships have been tested for 8 Alu markers, whose variation has been described in several Amerindian and European samples. Reynolds genetic distances underline the significant genetic similarity of Bahia Blanca to Europeans (mean distance 0.044) and their differentiation from Amerindians (0.146). Interestingly enough, when the general sample is divided, Bahia Blanca Original appears slightly closer to Amerindians (0.127) in contrast to Bahia Blanca Mix (0.161). Furthermore, the genetic relationships depicted through a principal components analysis emphasize the relative similarity of Bahia Blanca Original to Amerindians. A thorough knowledge of the sample origins has allowed us to make a subtle distinction of the genetic composition of Bahia Blanca. Am. J. Hum. Biol., 2007. © 2007 Wiley-Liss, Inc.

Microsatellite variation (CAG and GGC repeats) of the androgen receptor (AR) gene shows remarkable differences among African and non-African populations. In vitro studies have demonstrated an inverse relationship between the length of both microsatellites and AR activity. This fact may explain the observed association of the AR gene with prostate cancer and the strong ethnic differences in the incidence of this cancer. CAG and GGC genetic variation has been tested in a large set of populations from the Ivory Coast as well as 12 Mediterranean samples whose variation is described for the first time. The pattern of frequencies observed in the Ivory Coast agrees with data previously reported for other Sub-Saharan populations. Concerning the Mediterranean variation, Sardinian samples are characterised by low genetic diversities, and Egyptian Siwa Berbers by a particular pattern of GGC frequencies. High and Middle Atlas Moroccan Berbers are the most closely related to the Sub-Saharan variation. For both the CAG and GGC repeats, the Ivory Coast and some Moroccan samples exhibit high frequencies of low size alleles (CAG under 18 repeats, and GGC under 15 repeats) that have been associated with prostate cancer.

Through the nitric oxide (NO) production in the vascular system, the endothelial nitric oxide synthase (eNOS or NOS3) is a key enzyme in blood pressure regulation and atherosclerosis control. Several previous studies have suggested an important role of eNOS as a genetic risk factor for cardiovascular diseases. In this context, a genetic association study was carried out between two eNOS polymorphisms (the ecNOS4a/b VNTR and the G894T substitution) in a sample of 101 nuclear families having one affected offspring of ischemic heart disease (IHD). Transmission disequilibrium test (TDT) revealed partial associations between the VNTR marker and IHD in patients with a type A behavior pattern (TABP) (P = 0.0325, RR = 3.67) and for the haplotype formed by variant b of the VNTR and the T mutation of the G894T substitution in the IHD-affected subgroup having body mass index (BMI) lower than 25 (P = 0.0348, RR = 0.22). However, once multiple testing correction was applied, the associations became nonsignificant. A significant effect of the haplotype b-G increasing high-density lipoprotein cholesterol (HDL-C) plasma levels was detected (P = 0.021 after Bonferroni correction). From a population point of view, frequencies found for G894T substitution in Spain were significantly different from other populations.

The demographic impact of the Arabization in the Berber genetic background has been extensively studied by means of different classical and DNA genetic markers. Information from other biological traits as dermatoglyphics could be of interest in order to gain an insight into the relationship between these two North African groups.The Moroccan Berber population is characterized by means of digital and palm dermatoglyphics to determine the degree of genetic affinities among Berber and other Mediterraneans, especially the Moroccan Arab-speakers.Finger patterns, pattern intensity, finger total ridge counts, pattern frequencies in the five configuration areas of the palm, mainline D terminations, and a-b ridge count were analysed in a sample of 120 males and 103 females of Moyen Atlas (Morocco).Bilateral asymmetry was more pronounced than sexual differences in the overall distribution of the analysed traits. Our two series (males and females) exhibit high values of total ridge count (TRC) and mainline D terminations in comparison with other Mediterranean series. Several pattern frequencies in fingers and palm areas also differentiate the Berbers of Moyen Atlas from North Africans.The picture obtained by principal components based on qualitative digital and palm data revealed that Berber males were within the variation range of North African groups while Berber females clustered with some Iberian samples. The population pattern obtained in a bivariate plot of quantitative finger data showed the Berbers (males and females) as the most differentiated population in the Mediterranean context. Dermatoglyphic data failed to indicate any particular proximity between Berbers and Arab-speakers from Morocco.

Background Calcium channel blockers facilitate the renal excretion of sodium and this effect is maintained during chronic administration of these drugs. However, it is unknown whether this natriuretic effect remains despite the presence of a decreased renal function. Objective To compare the natriuretic capacity of nifedipine gastrointestinal therapeutic system (GITS) and lisinopril in patients with mild-to-moderate chronic renal failure. Methods An open-label, randomized, comparative study was conducted to compare the natriuretic capacity of nifedipine GITS and lisinopril in the presence of mild-to-moderate renal failure (creatinine clearance 30-80 ml/min). After a wash-out period of 4 weeks an intravenous saline infusion (30 ml/kg of body weight of isotonic saline in 4 h) was performed and repeated after 4 weeks of active therapy. Two sex- and age-matched groups of hypertensive patients (n = 25) were included in the study. Renal failure was diagnosed as secondary to nephrosclerosis in all the patients. Results A significant increase in the renal capacity to excrete the sodium load was observed in patients receiving nifedipine GITS (n = 11) but not in those taking lisinopril (n = 13). Both drugs controlled blood pressure to a similar extent. No changes were observed in body weight, glomerular filtration rate and renal plasma flow (measured as inulin and paraaminohippurate clearances). A significant drop was observed in urinary albumin excretion after lisinopril, but not after nifedipine. Heart rate was higher in nifedipine group. Conclusion The natriuretic capacity of nifedipine GITS remains despite the presence of mild-to-moderate chronic renal failure. Such an effect takes place in the absence of changes in renal hemodynamics, suggesting that it is caused by a direct tubular effect.

Background The Mediterranean has a long history of interactions among different peoples. In this study, we investigate the genetic relationships among thirteen population samples from the broader Mediterranean region together with three other groups from the Ivory Coast and Bolivia with a particular focus on the genetic structure between North Africa and South Europe. Analyses were carried out on a diverse set of neutral and functional polymorphisms located in and around the coagulation factor VII and XII genomic regions (F7 and F12). Results Principal component analysis revealed a significant clustering of the Mediterranean samples into North African and South European groups consistent with the results from the hierarchical AMOVA, which showed a low but significant differentiation between groups from the two shores. For the same range of geographic distances, populations from each side of the Mediterranean were found to differ genetically more than populations within the same side. To further investigate this differentiation, we carried out haplotype analyses, which provided partial evidence that sub-Saharan gene flow was higher towards North Africa than South Europe. Conclusions As there is no consensus between the two genomic regions regarding gene flow through the Sahara, it is hard to reach a solid conclusion about its role in the differentiation between the two Mediterranean shores and more data are necessary to reach a definite conclusion. However our data suggest that the Mediterranean Sea was at least partially a barrier to gene flow between the two shores.