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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.

AIM Multidrug-resistant bacterial infections are a public health problem worldwide. However, most of the information available refers to adults. The main objectives were to determine the incidence, risk factors, and outcomes for device-associated infections, especially those involving multidrug-resistant bacteria. METHODS This is a prospective, observational study. Children aged ≥1 month and

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.

[EN] Aim of study: Governance and the knowledge and innovation system (KIS) are interrelated concepts. Knowledge management best practices are linked to KIS performance. This article explores the governance of the leading research, development, and innovation institutes in Ibero-American agriculture, food, and agro-industry sector. The paper reports mapping of the governance of 20 agricultural research institutes. Area of study: Latin America and the Caribbean, Spain and Portugal. Material and methods: In total, 51 strategic objectives for effective governance were identified. Self-evaluation by the National Agricultural Research Institutes (NARIs) was validated at a workshop backed by FONTAGRO, a cooperation mechanism amongst Latin American and the Caribbean countries, Portugal and Spain, and the Ibero-American Network of NARIs. Main results: As a strength, the key dimension of NARIs appears to be coordination and cooperation. This result was acknowledged in the internal and external evaluations and supports previous research on the relevance of innovation networks in Latin America. By contrast, as a challenge, the key dimension appears to be demand articulation, followed closely by capacity building. Most of the institutes are also well-positioned to develop deeper ties with social and environmental challenges. Research highlights: In the medium and long term, NARIs should make efforts to improve the processes of organizational evaluation and learning, demand articulation, and strategic direction of the institutions. Improvement in management processes, in addition to best practices for social responsibility and gender equality, appear to be short-term priorities., American Development Bank and the Knowledge Partnership Korea Fund for Technology and Innovation (KPK). Ministry of Science and Innovation, Spain and ERDF (European Commission). RTI2018-093791-B-C22

Background: The use of corticosteroids has been shown not to improve the prognosis of patients with bronchiolitis, but it could be assumed that steroids will reduce inflammation. This study aimed to assess whether corticoid therapy influenced the inflammatory and clinical response of critically ill infants. Methods: Prospective, randomized, double blind placebo-controlled trial of glucocorticoids (GCT) in infants of less than 12 monthswith severe or moderate bronchiolitis. Patients were randomized to receive systemic corticoid therapy or placebo. The main outcomes were: a) levels of lymphocyte subsets; b) levels of IL-2, IL-12, and IFNγ as pro-inflammatory factors,and c) levels of IL-4 and IL-10 as anti-inflammatory response. Secondary outcomes related with the clinical response were also analyzed. Results: 97 patients were randomized. Evolution of lymphocyte subsets was similar in both groups. Pro-inflammatory interleukins and interferon decreased, but without differences. Anti-inflammatory interleukins showed a significant decrease from baseline to the end of the study, and IL-10 values were significantly lower (p = 0.046) in the GCT group [1.82 pg/ml (1.2-3.5)] vs non-GCT [4 pg/ml (1.5-6.3)]. GCT group showed a lower time of mechanical ventilation and of hospitalization, but without statistically significant differences. No cases of severe adverse reaction to steroids were detected. Conclusions: administration of systemic GCT did not modify the inflammatory nor the clinical response of patients with severe bronchiolitis, except for IL-10 levels that were significantly lower in the GCT group. This can open a line of investigation about the relation of IL-10 and response to bronchiolitis.Trial registration: Glucocorticoid Therapy Impact on the Inflammatory Response and Clinical Evolution in Patients With Severe Bronchiolitis, Clinical Trials.gov registration number: NCT02571517.Study start date: Nov 2011.

A common missense mutation (1470T > A) in gene SLC16A1 responsible for an amino acid substitution in protein MCT1 has been associated with differential lactate transport and hence, differences in physical performance and muscle injuries in relation to physical exercise. This study describes, for the first time, the worldwide variation of MCT1 variant 1470T > A at an intra- and inter-continental level. Two thousand five hundred and four individual genotypes of 26 populations clustered in 5 population groups have been analysed with data downloaded from the public database 1000 Genomes Phase 3 Browser. Several parameters of population differentiation and structure have been explored as well as selection signatures in the whole gene. Allele T, the common variant, shows extremely high values in Sub-Saharan African groups (frequencies 86-91%) as compared with the remaining world regions (69-49%). TT genotype also predominates in African groups, showing significant differences with the rest of world populations. In view of the evidence that the TT genotype is associated with clinical implications and a better predisposition to sprint/power performances, we suggest that the high presence of the TT genotype in African populations should be taken into account in future association studies at both medical and sports fields.

Background: Taking into account that injury is one of the main causes of child fatalities in developed countries, and that boys are more likely to suffer it than girls, we have explored a database of pediatric patients with severe injuries to determine whether sex and age influence the pattern of these fatalities, and the magnitude of this.Method: Observational study of the demographic and clinical characteristics of 227 patients from a Spanish pediatric reference hospital, all of them admitted with a diagnosis of trauma.Result: Falls are the most frequent type of trauma (60.7%), followed by pedestrian traffic collisions (15%). Boys are over-represented in falls (72% vs 28% in girls) and pedestrian traffic injuries (61% vs 39 %). In boys, falls are mainly observed in public roads and during leisure activities (53.8%) whereas in girls at home (55.2%). In a logistic regression, sex and age are statistically significant predictors of severe trauma, boys (OR = 1.59) and the adolescent age group (OR = 3.7) showed the highest odds.Conclusion: We have observed a clear gender-biased pattern of injury-related events: falls are the leading cause of injuries, with 2.5 boys for every girl. Falls mostly happened during outdoor leisure activities in boys and at home in girls. Pedestrian traffic injuries also show significant differences between sexes, emphasizing the role of cognitive and cultural factors in children’s behavior.

ObjectiveTo assess the usefulness of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide as predictors of need for mechanical ventilation and postoperative complications (need for inotropic support and bacterial infection) in critically ill pediatric patients after cardiopulmonary bypass.DesignA prospective, observational study.SettingPediatric intensive care unit.PatientsPatients under 18 years old admitted after cardiopulmonary bypass.Measuraments and main resultsSerum levels of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide were determined immediately after bypass and at 24-36 hours. Their values were correlated with the need for mechanical ventilation, inotropic support and bacterial infection. One hundred eleven patients were recruited. Septal defects (30.6%) and cardiac valve disease (17.1%) were the most frequent pathologies. 40.7% required mechanical ventilation, 94.6% inotropic support and 15.3% presented invasive bacterial infections. Pro-adrenomedullin and pro-atrial natriuretic peptide showed significant high values in patients needing mechanical ventilation. Cut-off values higher than 1.22 nmol/L and 215.3 pmol/L, respectively for each biomarker, may indicate need for mechanical ventilation with an AUC of 0.721 and 0.746 at admission and 0.738 and 0.753 at 24-36 hours, respectively but without statistical differences. Pro-adrenomedullin and procalcitonin showed statistically significant high values in patients with bacterial infections.ConclusionsAfter bypass, pro-adrenomedullin and pro-atrial natriuretic peptide are suitable biomarkers to predict the need for mechanical ventilation. Physicians should be alert if the values of these markers are high so as not to progress to early extubation. Procalcitonin is useful for predicting bacterial infection. This is a preliminary study and more clinical studies should be done to confirm the value of pro-adrenomedullin and pro-atrial natriuretic peptide as biomarkers after cardiopulmonary bypass.

In northeast Argentina, different Amerindian communities share territory and history with settlers, mainly Europeans. Due to miscegenation, the current Argentinean population has a particular structure that can be described through X chromosome variation. The objectives of this study were to describe the variation of 10 X-chromosome short tandem repeats (X-STRs) in urban populations of the Argentinean regions known as Gran Chaco and Mesopotamia, report the forensic parameters of these STRs, and estimate the European and indigenous genetic components in these regions. Population and forensic parameters were estimated for 419 individuals from the analyzed populations, including two indigenous groups, Wichi and Mocovi, previously reported. Population structure was estimated through FST and RST distances and analysis of molecular variance. The indigenous American and European components were assessed with STRUCTURE. X-STRs showed a high level of genetic variability in urban and indigenous populations. Indigenous people of the Gran Chaco region showed significant differentiation from the urban samples (FST = 5.5%) and among themselves (FST = 5.3%). Genetic differentiation among urban groups was almost negligible, except that the population from Mision Nueva Pompeya differed from the rest of the city populations. Forensic parameters indicate that these X-STRs are useful as a complement to paternity tests. The set of 10 STRs could be a good tool for examining population differences., Instituto Argentino de Radioastronomía, Instituto Multidisciplinario de Biología Celular, Facultad de Ciencias Naturales y Museo

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

The aim of this study is to describe the diversity of four cytochrome and four sulfotransferase polymorphisms in six north African samples. Scarce data have been compiled for these samples despite the rich genetic background of north African populations. CYP3A4*1B, CYP3A4*17, CYP3A4*3, CYP3A5*3, SULT1A1*2, SULT1A2*2, SULT1A2*3 and SULT1E1*2 polymorphisms were explored in 556 individuals from Morocco, Algeria, Tunisia and Libya. Allele frequencies in our samples largely exceeded the variation ranges described for European populations, especially for CYP3A4*1B, SULT1A1*2 and SULT1A2*3. North African populations are heterogeneous, genetically diverse and show a considerable sub-Saharan African contribution for markers associated with increased risk of prostate cancer and with differential drug metabolism. UEM (2015/31) 2.350 JCR (2016) Q3, 132/257 Pharmacology and Pharmacy 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.

Cytochrome P450 (CYP450), sulfotransferase (SULT), and glucuronidase (UGT) enzymes play roles in the phase I and phase II metabolism of most clinically prescribed drugs. As polymorphisms in these genes may alter enzyme activities, most prescribed drugs will differ in their efficacy and side effects. In prior work, we showed that besides polymorphisms in CYP450, those in SULT and UGT also give rise to different serum levels of some drug metabolites than detected in wild-type carriers of the genes [1]. [...]

OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. Am. J. Hum. Biol., 2015. © 2015 Wiley Periodicals, Inc. Language: en

The Rhesus (Rh) blood group system is one of the most highly polymorphic genetic systems used in the investigation of human genetic relationships. In this paper the researchers aimed to expand the determination of the Rh haplotype frequencies in new samples from North African populations providing comparative analyses within and between these populations. A total of 771 blood samples were collected from three North African countries. Results reveal a general genetic homogeneity between North African populations when samples representative of wide areas were considered, regardless of their current linguistic status. However a significant micro-differentiation could be noted when small areas were considered. North African populations would possess a low ancient genetic sub-Saharan component. Analyses of the Rh haplotype frequency variation showed that worldwide populations represent a network of genetic relationships having adequate statistics and a general correspondence with geography coupled to historical patterns of gene flow and genetic drift influence.

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.

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.

During successive historical periods, Tunisia has been a crossroads of multiple civilizations and their corresponding key population movements. The aim of this study was to provide genetic information relating to the mixed origin of the Tunisian population, and to analyze its genetic relationship with other North African and Mediterranean populations. A set of 16 Alu and 3 Alu/STR compound systems has been analyzed in 268 autochthonous Tunisians from the north-center and the south of the country. Our two sampled populations showed no significant differentiation from one another in any of the three Alu/STR compound systems, whereas the analysis of the 16 Alu markers revealed a significant genetic differentiation between them. A sub-Saharan component shown by the three Alu/STR combinations is more noticeable in our north-center sample than in that of the south. The presence of two Alu/STR combinations specific to North African ancestral populations also suggests that the ancient Berber component is relatively more substantial in the north and center regions than in the south. Our Tunisian samples cluster together with other Berber samples from Morocco and Algeria, underpinning the genetic similarity among North Africans regardless of their current linguistic status (Berber or Arabic).

Y-chromosome STR polymorphisms are inherited in a haploid state which makes them a powerful tool for easy tracing of paternal lineage and for use in human population evolutionary studies. North-African Y chromosomal diversity has traditionally been studied in order to find genetic and geographic associations as well as to test how natural and cultural barriers have affected the degree of genetic flow not only within North Africa but also in a wider Mediterranean context. The degree of Berber/Arab genetic differentiation in the Moroccan population has been tested for a complete set of forensic markers as sixteen Y-chromosomal short tandem repeats (STRs) (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1). The results suggest considerable population heterogeneity in North Africa. 1.975 JCR (2011) Q2, 28/85 Biology, 61/158 Public, environmental & occupational health

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

The variation of 18 Alu polymorphisms and 3 linked STRs was determined in 1,831 individuals from 15 Mediterranean populations to analyze the rela- tionships between human groups in this geographical region and provide a complementary perspective to information from studies based on uniparental markers. Patterns of population diversity revealed by the two kinds of markers examined were different from one another, likely in relation to their different mutation rates. There- fore, while the Alu biallelic variation underlies general heterogeneity throughout the whole Mediterranean region, the combined use of Alu and STR points to a con- siderable genetic differentiation between the two Mediter- ranean shores, presumably strengthened by a consider- able sub-Saharan African genetic contribution in North Africa (around 13% calculated from Alu markers). Gene flow analysis confirms the permeability of the Sahara to human passage along with the existence of trans-Mediter- ranean interchanges. Two specific Alu/STR combina- tions—CD4 110(2) and DM 107(2)—detected in all North African samples, the Iberian Peninsula, Greece, Turkey, and some Mediterranean islands suggest an ancient genetic background of current Mediterranean peoples. Am J Phys Anthropol 141:430-439, 2010. V C 2009 Wiley-Liss, Inc.

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.

Background: Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations. Objective: In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection. Results: The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD. Conclusions: The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.

Once some of the major goals in the understanding of human gene diversity are attained, we have now the opportunity to apply them to the field of biomedicine. The knowledge of complete genomes allowed us to go more deeply into the genetic factors of many diseases. Much effort has been devoted to unravel the genetic and environmental contribution to complex diseases, not without difficulty because they represent the extreme manifestation of a continuum of genetic, physiological, and environmental features. With the added pressure that some of these disorders have reached epidemic proportions because of the lifestyle changes of worldwide populations. Within this scenario, this special issue contains five works about complex diseases, including heart pathologies, rheumatoid arthritis, colorectal cancer, and childhood asthma. All are multistep diseases with unknown interactions among environmental agents and genetic susceptibility. In addition, their incidences do not stop increasing in both western and emerging countries. The methodological approximations of the five articles respond to different designs including miRNAs binding sites, mitochondrial heteroplasmy, SNP genotyping, and a very particular sample. In the paper entitled “Mosaicism of Mitochondrial Genetic Variation in Atherosclerotic Lesions of the Human Aorta,” the samples are segments of morphologically mapped aortic walls instead of human patients as in the remaining papers. In this work, M. A. Sazonova et al. examine the heteroplasmy levels of eleven mitochondrial mutations in segments of morphologically mapped aortic walls, normal and affected by atherosclerosis segments of morphologically mapped aortic walls. Five mutations have been found significantly associated with atherosclerotic lesions of intimal segments. The next paper concerning heart diseases is entitled “Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect.” The work conducted by I. E. Monroy-Munoz et al. analyzes patients affected by congenital heart defects for TBX20 mutations. Three missense mutations located in exons encoding the transcriptional activator domain have been detected, together with other ten nonsense mutations and one nonreported SNP. The work entitled “TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Antitumor Necrosis Factor Therapy” examines the association between risk variants of rheumatoid arthritis and response to treatment with antitumor necrosis factor. In their paper, H. Canhao et al. examine more than six hundred Portuguese and Spanish patients and fail to replicate the previously reported association of PTPRC locus and response to treatment. The relationship among risk of asthma, environmental exposures, and genetic background has been deeply examined in the paper entitled “Gender-Dependent Effect of GSTM1 Genotype on Childhood Asthma Associated with Prenatal Tobacco Smoke Exposure.” C.-C. Wu et al. conducted a longitudinal birth cohort study of six years of follow-up recruiting more than five hundred children to explore the interactive influences of gender, GSTM1 genotypes, and prenatal tobacco smoke exposure in asthma development. Finally, the paper entitled “A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population” investigates the association between miR-520a binding site polymorphism in the PIK3CA gene and risk of colorectal cancer. L. Ding et al. conclude that polymorphisms in untranslated regions of PIK3CA may play a role in colorectal carcinogenesis.

This review is focused on the genetic variation of sulfotransferases (SULTs) and cytochromes (CYPs) genes among different ethnic groups, mainly focusing in variation in North African populations. Polymorphisms of SULTs and CYPs proteins are associated with altered enzymatic activity and physical characteristics. Single nucleotide polymorphisms (SNP) in these genes have shown relevant ethnic differences among Sub-Saharan African and European groups that might contribute to understand the variability in drug metabolism and risk to certain cancers that has been described among these two groups. Taking into account that North African populations have been scarcely described for these genes, and considering the rich genetic past of this region with a noticeable Sub-Saharan African contribution to their original background, it is interesting a revision and description of some relevant polymorphisms. UEM (2015/31) No data (2015) UEM

Summary The origin of Pacific islanders is still an open issue in human population genetics. To address this topic we analyzed a set of 18 Alu insertion polymorphisms in a total of 176 chromosomes from native Easter Island inhabitants (Rapanui). Available genealogical records allowed us to subdivide the total island sample into two groups, representative of the native population living in the island around 1900, and another formed by individuals with some ancestors of non-Rapanui origin. Significant genetic differentiation was found between these groups, allowing us to make some biodemographic and historical inferences about the origin and evolution of this geographically isolated island population. Our data are consistent with equivalent and recent contributions from Amerindian and European migrants to the 1900s Rapanui population, with an accelerated increase in the European gene flow during the 20th century, especially since the 1960s. Comparative analysis of our results with other available Alu variation data on neighbouring populations supports the “Voyaging Corridor” model of Polynesian human settlement, which indicates that pre-Polynesians are mainly derived from Southeast Asian and Wallacean populations rather than from Taiwan or the Philippines. This study underlines the importance of sampling and taking into account historical information in genetic studies to unravel the recent evolution of human populations.

CD4 STR/Alu haplotype diversity, both for its qualitative and quantitative properties, has been widely used in molecular anthropology to clarify the degree of genetic relationships among human populations.CD4 STR/Alu variation was studied in two West Mediterranean samples, Andalusians from La Alpujarra region on the north side of the Gibraltar Strait and Berbers from the south, to ascertain the pattern of affinities between them.Alu and microsatellite alleles were tested in 99 Andalusians from La Alpujarra region (Southeast Spain) and 124 Middle Atlas Berbers (Morocco).Two new combinations of Alu and STR alleles (75(+) and 80(-)) were found in Berbers. The CD4 STR/Alu haplotype distribution in South Spaniards is similar to that of other Europeans, the only special feature is the slight presence of the 90(+) and 130(+) typical Sub-Saharan haplotypes. The Berber sample is characterized by a high number of different haplotypes (18) with intermediate heterozygosity values (0.846) in comparison with other North African groups, and by a high frequency of the 110(-) combination that has been proposed as representative of an ancient Northwest African population.A geographical gradient of Sub-Saharan gene contribution has been detected in North Africa. The Middle Atlas Berbers showed an intermediate value in comparison with the high and low values found in Mauritanians and Moroccan Berbers, respectively. The analysis of the CD4 STR/Alu haplotype variation failed to indicate any particular relationship between South Spaniards and North Africans.

Apolipoprotein LPA, APOE, APOC1, and APOC2 genotype frequencies have been determined for the first time in a North African population. A sample of 140 Berber individuals from the Moroccan Moyen Atlas region has been analyzed. Allelic and haplotypic data have been used to compare our sample with other world populations and the results clearly differentiate Berbers from Europeans and Sub-Saharans, suggesting several distinctive features of Moroccan Berbers as the extreme high values of LPA PNR*11 pentanucleotide allele (10.5%) and the relatively high and low values of APOE*E4 (15.7%) and *E2 (4.5%) in comparison to other Mediterraneans. Another remarkable result is the frequency distribution of the two APOC2 alleles (70% vs 30%) in comparison with the European pattern (50% of each allele). The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.

The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patients. The distribution of MTHFR genotypes was similar in the IHD subjects and the parental group; the TT genotype was present in 14.9% of IHD patients, as compared to 15.2% in the parents. The frequency of the T allele was also similar in IHD cases and parents (39.6% vs. 42.4%; p = 0.649). The TDT confirmed that the observed transmission of the T allele did not deviate significantly from the expected one (chi2 = 0.743; p > 0.4). Our TDT analysis clearly demonstrates a lack of association between the T allele of the C677T mutation in MTHFR and cardiovascular artery disease, both for the general group and for different risk subgroups (smokers, hypertension, male sex, overweight and type A behaviour pattern) in the Spanish population.