Populations Of European Origin Research Articles

Amyotrophic lateral sclerosis mortality rates among ethnic groups in a predominant admixed population in Latin America: a population-based study in Ecuador

Current evidence suggests heterogeneity of amyotrophic lateral sclerosis (ALS) among geographic areas and populations. Lower mortality rates have been reported in admixed populations compared to European origin populations. We aimed to describe and compare ALS mortality rates among ethnic groups using a population-based approach in a multiethnic country. Annual mortality cause registers were searched to determine ALS deaths from the National Institute of Statistics and Censuses in Ecuador (INEC) from 1990 to 2016. Mid-year population was considered for each year. The time trend was assessed using a negative binomial regression. Rate ratio statistics were performed to compare the age and sex standardized rates based on the 2010 US population among ethnic groups. Overall, 570 ALS deaths were identified. ALS mortality showed an age-related profile with a peak between 55 and 70 years. After age–sex standardization on the 2010 US population, mortality rate was 0.33 (CI 0.30–0.36) per 100,000. The time trend showed an increase of ALS mortality (p < 0.001). There was no statistical difference in age–sex standardized mortality rates per 100,000 when admixed was compared to white (p = 0.231) and black (p = 0.125). Differences reached statistical significance between admixed and other ethnics (p = 0.015). Our population-based study supports the hypothesis that ALS occurrence is lower in predominant admixed populations from Latin America compared to European and Northern American populations. Further studies are needed to clarify the role of ancestral origin in ALS susceptibility.

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, GALC. Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encoding the galactocerebrosidase enzyme was cloned and expressed in 1993, and up until today 117 mutations have been described. In a patient population of Northern European origin, a 30‐kb deletion and two missense mutations, c.1586C>T; p.T529M and c.1700A>C; p.Y567S, are expected to account for 50%‐60% of pathogenic alleles. In this study, we present information on genetic variation, enzyme activity, and phenotypes of 29 patients affected by Krabbe disease. Patient data were collected from patient files at the Department of Clinical Genetics, Rigshospitalet. Ten previously unreported mutations were identified, including four missense mutations; c.1142C>T; p.T381I, c.596G>T; p.R199M, c.443G>A; p.G148E, c.1858G>A; p.G620R, two nonsense mutations; c.863G>A; p.W288*, c.1214c>G; p.S405*, one splice site mutation; c.442+1G>A, one insertion; c.293insT and two deletions; c.1003_1004del, c.887delA. For all of the new mutations, we were able to classify them in phenotype groups. Furthermore, we present a combined allele frequency of the three frequent mutations p.T529M, p.Y567S, and the 30‐kb deletion of 62%, and we describe a broadening of the phenotypes associated with the mutations p.T529M and p.Y567S.

Triple-negative breast cancer: the reality in Chile and in Latin America.

Breast cancer is the leading cause of cancer death among women worldwide. While triple-negative breast cancer is less common among various sub-types of breast cancer, it tends to affect younger women and is more aggressive, having a higher rate of early recurrence and mortality compared to other sub-types. We know about the association between triple-negative breast cancer and BRCA mutations, which are highly prevalent in founding populations of European origin, but the true prevalence of these mutations in Latin American populations is unknown. There is also very little information about the demographic and epidemiological aspects of triple-negative breast cancer in Latin America, which we will try to summarise in this article. In addition, we will try to provide a brief introduction to the most common recommendations for treating this histological class in Latin America.

Doing the Same But With Different Arguments: Matrimonial Dispensations in the Indigenous and Spanish Population of Colonial Charcas

This paper deals with the use of matrimonial dispensations to marry relatives in prohibited degrees by Canon law, mainly among the indigenous peoples of Charcas (present Bolivia) during the seventeenth and eighteenth centuries. As a source to understand social and religious practices, the dispensations provide a privileged place of observation, insofar as they constitute a gap between the norm and the social practice, and a space of interaction and agency, from the anthropological point of view, since the request for dispensations was part of the social and material reproduction strategies of indigenous groups. Even when, in this sense, the use of this legal recourse does not seem to differ much from what the population of European origin did, which secularly employed the same resource, this paper proposes that the reasoning behind the use of matrimonial dispensations, as well as the arguments employed varied in both socio-ethnic groups. From the vantage point of a global history of law which involves the Tridentine Church, expanded around the globe, dispensations are an example of the accommodation in terms of »time, place and circumstances«. Taking into account that the Council of Trent had extended matrimonial impediments, the granting of dispensations among the indigenous population serves as an example of the paradoxes of the Christianisation of marriage in colonial Hispanic American territories, which frequently forced the Church to dissimulate and make concessions rather than to restrict and discipline.

Population Genomic Structure and Genome-Wide Linkage Disequilibrium in Farmed Atlantic Salmon (Salmo salar L.) Using Dense SNP Genotypes.

Chilean Farmed Atlantic salmon (Salmo salar) populations were established with individuals of both European and North American origins. These populations are expected to be highly genetically differentiated due to evolutionary history and poor gene flow between ancestral populations from different continents. The extent and decay of linkage disequilibrium (LD) among single nucleotide polymorphism (SNP) impacts the implementation of genome-wide association studies and genomic selection and provides relevant information about demographic processes of fish populations. We assessed the population structure and characterized the extent and decay of LD in three Chilean commercial populations of Atlantic salmon with North American (NAM), Scottish (SCO), and Norwegian (NOR) origin. A total of 123 animals were genotyped using a 159 K SNP Axiom® myDesignTM Genotyping Array. A total of 32 K SNP markers, representing the common SNPs along the three populations after quality control were used. The principal component analysis explained 78.9% of the genetic diversity between populations, clearly discriminating between populations of North American and European origin, and also between European populations. NAM had the lowest effective population size, followed by SCO and NOR. Large differences in the LD decay were observed between populations of North American and European origin. An r2 threshold of 0.2 was estimated for marker pairs separated by 7,800, 64, and 50 kb in the NAM, SCO, and NOR populations, respectively. In this study we show that this SNP panel can be used to detect association between markers and traits of interests and also to capture high-resolution information for genome-enabled predictions. Also, we suggest the feasibility to achieve similar prediction accuracies using a smaller SNP data set for the NAM population, compared with samples with European origin which would need a higher density SNP array.

First phenotypic and genotypic description of Fasciola hepatica infecting highland cattle in the state of Mexico, Mexico

Fascioliasis is a plantborne and zoonotic parasitic disease caused by fasciolid liver flukes. Fasciola hepatica is the only fasciolid species described in the Americas. Human fascioliasis endemic areas are mainly located in high altitude areas of the Americas. Given the necessity to characterize F. hepatica populations involved, the phenotypic and genotypic features of fasciolid adults infecting cattle in the highland area of Toluca, State of Mexico, Mexico, were analyzed and compared to fasciolid materials from the Northern Bolivian Altiplano, representing the altiplanic transmission pattern in a hyperendemic scenario. A computer image analysis system (CIAS) was applied on the basis of standardized measurements. The aforementioned F. hepatica highland populations were compared to standard lowland natural populations of European origin (Spain and France) and F. gigantica of African origin (Burkina Faso). Liver-fluke size was studied by principal component analysis (PCA). Two phenotypic patterns could be distinguished in the F. hepatica material analyzed from the Americas: the valley pattern (Toluca, Mexico) and the altiplanic pattern (Northern Altiplano, Bolivia). PCA showed that the Altiplano population presented a large body size range with a pronouncedly lower minimum size. Mahalanobis distances demonstrated that American populations are very close to European populations. Genetic haplotyping was performed using the ribosomal DNA intergenic region, including ITS-1, 5.8S and ITS-2. The intergenic region was 951 bp-long, providing 2 combined haplotypes due to one mutation appearing in the ITS-2 sequence. Molecular results showed that Fh-1A and Fh-2A, the most frequent haplotypes of F. hepatica from southern Europe, are present in Mexican cattle. Nuclear rDNA biomarkers correlated with adult fluke phenotypic characteristics. Results showed that the Mexican population analyzed and European standard populations presented a phenotypic and genotypic homogeneity, suggesting an introduction with livestock transported during the early colonization period. Results are moreover analyzed in terms of altitude and permanent/seasonal transmission characteristics.

Sex and area differences in the association between adiposity and lipid profile in Sub-Saharan Africa: A comparison with a European population

Introduction Sub-Saharan African (SSA) countries are facing a rising epidemic of non-communicable diseases (NCDs) alongside a persistent burden from undernutrition and infectious diseases. Mendelian randomization (using genetic variants as instrumental variables) and randomised controlled trial (RCT) evidence show that high levels of total (TC) and low-density lipoprotein-cholesterol (LDL-C) and of triglycerides (TG) are key causal risk factors for coronary heart diseases (CHD), that can be effectively modified to prevent CHD. Studies in high-income countries show that higher adiposity results in an adverse lipid profile, but whether this association is similar in SSA populations is unclear. One previous small study from Cameroon suggested higher adiposity increased dyslipidaemia in urban dwelling SSA populations but not in those in rural areas, but to our knowledge previous studies have not sought to replicate this. This study aimed to (i) assess the association between total and central adiposity measures and lipid profile in Malawi, exploring differences by sex and area of residence and (ii) compare the associations with observations from a predominantly white European-origin population cohort from the United Kingdom (UK). Methods Baseline data from the Malawi Epidemiology and Intervention Research Unit Non-Communicable Disease study (MEIRU NCD) were used. The study assessed adults in a rural (Karonga, Northern Malawi; n = 12,153) and an urban (area 25 of Lilongwe, the capital city; n= 12,869) of Malawi. The association of body mass index (BMI) and waist-hip ratio (WHR) with fasting lipids [TC, LDL-C, high density lipoprotein-cholesterol (HDL-C) and TG] was assessed by area and sex. Data from the UK Avon Longitudinal Study of Parents and Children (ALSPAC) were used for the comparison with a population from a high-income European setting, and included 3286 adolescents (mean age 17.8), 4107 mothers (mean age 47.9), and 1933 fathers (mean age 53.3). Multiple linear regression was used to examine the association of both BMI and WHR with each lipid measure, adjusted initially for age and then for potential confounding by household assets, education, marital status, number of children, smoking, alcohol, physical activity, lipid-lowering medication, and HIV status. As the UK data were taken from largely urban/sub-urban dwelling adolescents and middle-aged females and males, we selected two age groups of participants from the urban group of the Malawi cohort that had similar age distributions to the UK cohorts to compare associations between Malawians and UK residents. Results We observed positive linear associations of BMI and WHR with TC, LDL-C and TG and inverse association with HDL-C. Associations between BMI/WHR and serum lipids were in general similar in females and males, however, differed by area, with the associations between BMI and all serum lipids being stronger in rural than urban females, except for HDL-C, which was stronger in urban females. Associations did not differ consistently between rural and urban male residents. Associations of BMI and WHR with lipids were mostly similar or weaker in Malawi than the UK urban residents in both sexes and age groups. However, in middle-aged males, there was some evidence that associations of BMI and WHR with TC and LDL-C were stronger in Malawians. Conclusions The consistent associations observed of higher adiposity with adverse lipid profiles in females and males living in rural and urban areas of Malawi highlight the emerging adverse cardio-metabolic epidemic in this poor population. The similarity (or even stronger) associations between the Malawian and UK population highlight the importance of early interventions to control the emerging obesity epidemic in SSA populations.

A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population

BackgroundThyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleotide polymorphisms (SNPs) with thyroid cancer in a population from Rio Grande do Norte, Brazil.MethodsBased on histological analysis by a pathologist, 80 normal thyroid specimens of tissue adjacent to thyroid tumors were obtained from the biobank at the Laboratory of Pathology of Liga Norte Riograndense Contra o Câncer, Natal, RN. Patient samples were then genotyped using the MassARRAY platform (Sequenon, Inc) followed by statistical analysis employing the SNPassoc package in R program. The genotypic frequencies of all 45 SNPs obtained from the International HapMap Project database and based on data from the ancestral populations of European and African origin were used to compose the control study group.ResultsIn our study, the following 9 SNPs showed significant differences in their frequency when comparing the study and control groups: rs3744962, rs258107, rs1461855, rs4075022, rs9943744, rs4075570, rs2356508, rs17485896, and rs2651339. Furthermore, the SNPs rs374492 C/T and rs258107 C/T were associated with a relative risk for thyroid carcinoma of 3.78 (p = 6.27 × 10e−5) and 2.91 (p = 8.27 × 10e−5), respectively, after Bonferroni’s correction for multiple comparisons.ConclusionsThese nine polymorphisms could be potential biomarkers of predisposition to thyroid carcinoma in the population from Rio Grande do Norte. However, complementary studies including a control group with samples obtained from healthy subjects in Rio Grande do Norte state, should be conducted to confirm these results.

Venezuela's melting pot: 1500-1800

Not much is known about the demography of the native population of Venezuela in Colonial times. Until mid-17th century, some factual information may be gained from the narratives of the first conquistadores, missionaries and colonists, as well as of authors writing in later times of the Colony, but with access to original sources. After mid-17th century, some quantitative information of demographic relevance was collected by the Jesuit, Capuchin and Franciscan missionaries and, in the last decades of the 18th century, by the colonial administration and the religious authorities. The native population declined, from between 200,000 and 500,000 inhabitants at contact (guesstimates of modern authors) to perhaps 120,000 in 1800, according to Humboldt’s estimate. It is possible that the initial decline became steeper after the first smallpox pandemic of the 1580s and continued, at a slower pace, until the Independence. As in other regions of South America, marriage was early and almost universal, and the high ratio of births to deaths seems to indicate a high potential for growth, interrupted by frequent mortality crisis.A competing cause of the decline of the natives was the process of mestizaje that intensified with the increase of the population of European and African origin.

Functional non-synonymous variants of ABCG2 and gout risk.

Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In the present study, our objective was to determine the frequency and effect on gout of common and rare non-synonymous and other functional allelic variants in the ABCG2 gene. The main cohort recruited from the Czech Republic consisted of 145 gout patients; 115 normouricaemic controls were used for comparison. We amplified, directly sequenced and analysed 15 ABCG2 exons. The associations between genetic variants and clinical phenotype were analysed using the t-test, Fisher's exact test and a logistic and linear regression approach. Data from a New Zealand Polynesian sample set and the UK Biobank were included for the p.V12M analysis. In the ABCG2 gene, 18 intronic (one dysfunctional splicing) and 11 exonic variants were detected: 9 were non-synonymous (2 common, 7 rare including 1 novel), namely p.V12M, p.Q141K, p.R147W, p.T153M, p.F373C, p.T434M, p.S476P, p.D620N and p.K360del. The p.Q141K (rs2231142) variant had a significantly higher minor allele frequency (0.23) in the gout patients compared with the European-origin population (0.09) and was significantly more common among gout patients than among normouricaemic controls (odds ratio = 3.26, P < 0.0001). Patients with non-synonymous allelic variants had an earlier onset of gout (42 vs 48 years, P = 0.0143) and a greater likelihood of a familial history of gout (41% vs 27%, odds ratio = 1.96, P = 0.053). In a meta-analysis p.V12M exerted a protective effect from gout (P < 0.0001). Genetic variants of ABCG2, common and rare, increased the risk of gout. Non-synonymous allelic variants of ABCG2 had a significant effect on earlier onset of gout and the presence of a familial gout history. ABCG2 should thus be considered a common and significant risk factor for gout.

Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10−6), and rs7700147, an intergenic variant (P=2.93 × 10−5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.

Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update

BackgroundSPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies. AimTo investigate the role of SPINK1 p.N34S gene variation in CP patients with European origin by means of meta-analysis. MethodsLiterature search was conducted and case–control studies evaluating Caucasian population, published between May 2007 and May 2015, were included. We also included Caucasian selected studies analyzed in previous meta-analysis. We carried out meta-analysis including all selected studies. After that, we performed two additional meta-analyses considering the incidence of SPINK1 p.N34S gene variation in alcoholic or in idiopathic CP patients vs control group. ResultsTwenty-five studies were included and the total number of subjects was 8800 (2981 cases and 5819 controls). The presence of p.N34S variation increased nine times the overall CP risk in population of European origin [OR 9.695 (CI 95% 7.931–11.851)]. Also, the contribution of SPINK1 in idiopathic pancreatitis [OR 13.640 (CI 95% 8.858–21.002)] was found to be higher than in alcoholic CP [5.283 (CI 95% 3.449–8.092)]. ConclusionThe association between SPINK1 p.N34S gene variation and CP is confirmed. Also, we confirmed that the idiopathic etiology needs a better definition by means of genetic analysis.

Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations

MUFAs are unsaturated FAs with one double bond and are derived from endogenous synthesis and dietary intake. Accumulating evidence has suggested that plasma and erythrocyte MUFA levels are associated with cardiometabolic disorders, including CVD, T2D, and metabolic syndrome (MS). Previous genome-wide association studies (GWASs) have identified seven loci for plasma and erythrocyte palmitoleic and oleic acid levels in populations of European origin. To identify additional MUFA-associated loci and the potential functional variant at each locus, we performed ethnic-specific GWAS meta-analyses and trans-ethnic meta-analyses in more than 15,000 participants of Chinese and European ancestry. We identified novel genome-wide significant associations for vaccenic acid at FADS1/2 and PKD2L1 [log10(Bayes factor) ≥ 8.07] and for gondoic acid at FADS1/2 and GCKR [log10(Bayes factor) ≥ 6.22], and also observed improved fine-mapping resolutions at FADS1/2 and GCKR loci. The greatest improvement was observed at GCKR, where the number of variants in the 99% credible set was reduced from 16 (covering 94.8 kb) to 5 (covering 19.6 kb, including a missense variant rs1260326) after trans-ethnic meta-analysis. We also confirmed the previously reported associations of PKD2L1, FADS1/2, GCKR, and HIF1AN with palmitoleic acid and of FADS1/2 and LPCAT3 with oleic acid in the Chinese-specific GWAS and the trans-ethnic meta-analyses. Pathway-based analyses suggested that the identified loci were in unsaturated FA metabolism and signaling pathways. Our findings provide novel insight into the genetic basis relevant to MUFA metabolism and biology.

Genomewide analysis of admixture and adaptation in the Africanized honeybee.

Genetic exchange by hybridization or admixture can make an important contribution to evolution, and introgression of favourable alleles can facilitate adaptation to new environments. A small number of honeybees (Apis mellifera) with African ancestry were introduced to Brazil ~60years ago, which dispersed and hybridized with existing managed populations of European origin, quickly spreading across much of the Americas in an example of a massive biological invasion. Here, we analyse whole-genome sequences of 32 Africanized honeybees sampled from throughout Brazil to study the effect of this process on genome diversity. By comparison with ancestral populations from Europe and Africa, we infer that these samples have 84% African ancestry, with the remainder from western European populations. However, this proportion varies across the genome and we identify signals of positive selection in regions with high European ancestry proportions. These observations are largely driven by one large gene-rich 1.4-Mbp segment on chromosome 11 where European haplotypes are present at a significantly elevated frequency and likely confer an adaptive advantage in the Africanized honeybee population. This region has previously been implicated in reproductive traits and foraging behaviour in worker bees. Finally, by analysing the distribution of ancestry tract lengths in the context of the known time of the admixture event, we are able to infer an average generation time of 2.0years. Our analysis highlights the processes by which populations of mixed genetic ancestry form and adapt to new environments.

Morphological variability of the earlobe in a Spanish population sample

This article shows the morphological variability of the earlobe in a Spanish population of European origin. The frequencies of four lobe characteristics (attachment, contour, modeling, and size) and their degree of expression were studied. The relationship among the characteristics and the differences involving sex and laterality were also considered. The least frequent morphology, and of main use in solving forensic cases, was the very small size with triangle-pulled contour into the skin and crossed-discontinuous modeling. The most frequent morphology, and most clinically useful, was the medium-sized lobe with free-arched contour and eminent or cross-continuous modeling. The characteristics were all symmetric. Size and modeling showed sexual dimorphism. Some characteristics were associated with each other: attachment with contour and modeling and the contour with modeling and size. The least frequent peculiarities were sharp lobe and virgule. The literature is scarce on this matter, practically non-existent for some characteristics, especially modeling and peculiarities. For the first time, the associations of the ear characteristics were analyzed, and this information could be applied to forensic identification.

Identification of KANSARL as the first cancer predisposition fusion gene specific to the population of European ancestry origin.

Gene fusion is one of the hallmarks of cancer. Recent advances in RNA-seq of cancer transcriptomes have facilitated the discovery of fusion transcripts. In this study, we report identification of a surprisingly large number of fusion transcripts, including six KANSARL (KANSL1-ARL17A) transcripts that resulted from the fusion between the KANSL1 and ARL17A genes using a RNA splicingcode model. Five of these six KANSARL fusion transcripts are novel. By systematic analysis of RNA-seq data of glioblastoma, prostate cancer, lung cancer, breast cancer, and lymphoma from different regions of the World, we have found that KANSARL fusion transcripts were rarely detected in the tumors of individuals from Asia or Africa. In contrast, they exist in 30 - 52% of the tumors from North Americans cancer patients. Analysis of CEPH/Utah Pedigree 1463 has revealed that KANSARL is a familially-inherited fusion gene. Further analysis of RNA-seq datasets of the 1000 Genome Project has indicated that KANSARL fusion gene is specific to 28.9% of the population of European ancestry origin. In summary, we demonstrated that KANSARL is the first cancer predisposition fusion gene associated with genetic backgrounds of European ancestry origin.

Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study

PurposeCardiovascular disease (CVD) mortality accounts for 54% of all deaths in Lithuania, making it the highest among all of the European Union countries. We evaluated the prevalence of several CVD risk factors, including lifestyle, blood biochemistry and genetic predisposition to determine the reasons behind significantly increased CVD prevalence in Lithuania. Materials and methodsIn total 435 volunteers of Lithuanian ethnicity and stable geographic settlement for 3 generations, had their anthropometric, biochemical and behavioural risk factors measured. A randomly selected sample of 166 volunteers had their 60 CVD risk alleles genotyped. The prevalence of risk alleles and cumulative CVD genetic risk score were compared with population of North-West European origin (CEU) using data from the phase 3 HapMap project. ResultsCVD was present in 33.8% of study volunteers, 84% of participants consumed alcohol, 21% were current smokers and only 30% of participants engaged in higher levels of physical activity. Also, the average BMI (males 28.3±4.3kg/m2, females 27.3±5.0kg/m2), total cholesterol (males 6.1±1.2mmol/L, females 6.2±1.0mmol/L) and LDL-cholesterol (males 4.1±1.1mmol/L, females 4.1±1.0mmol/L) were above the normal values. The cumulative genetic susceptibility to develop CVD in Lithuanians was only 1.4% higher than in CEU population. ConclusionsHigh BMI and poor population plasma lipid profile are the major contributing factors to high CVD mortality and morbidity in Lithuania. Smoking, alcohol consumption and preliminary genetic predisposition results do not explain the difference in CVD mortality between the Lithuanian and wider European populations. CVD prevention programmes in Lithuania should primarily focus on weight loss and improving blood lipid control.

Genetic structure of the early Hungarian conquerors inferred from mtDNA haplotypes and Y-chromosome haplogroups in a small cemetery.

We applied ancient DNA methods to shed light on the origin of ancient Hungarians and their relation to modern populations. Hungarians moved into the Carpathian Basin from the Eurasian Pontic steppes in the year 895 AD as a confederation of seven tribes, but their further origin remains obscure. Here, we present 17 mtDNA haplotypes and four Y-chromosome haplogroups, which portray the genetic composition of an entire small cemetery of the first generation Hungarians. Using novel algorithms to compare these mitochondrial DNA haplogroups with other ancient and modern Eurasian data, we revealed that a significant portion of the Hungarians probably originated from a long ago consolidated gene pool in Central Asia-South Siberia, which still persists in modern Hungarians. Another genetic layer of the early Hungarians was obtained during their westward migrations by admixing with various populations of European origin, and an important component of these was derived from the Caucasus region. Most of the modern populations, which are genetically closest relatives of ancient Hungarians, today speak non-Indo-European languages. Our results contribute to our understanding of the peopling of Europe by providing ancient DNA data from a still genetically poorly studied period of medieval human migrations.

Estimation of stature in archaeological human skeletal remains from Britain.

For archaeological populations of northwest European origin, the Trotter and Gleser () "White" equations are generally used to estimate stature from long-bone length. The aim of this research is to investigate the reliability of these formulae for this purpose. Stature estimated using the Trotter and Gleser formulae was evaluated by comparing estimates with anatomically reconstructed stature in adult skeletons (N = 40) from Mediaeval England. Performance of the Trotter and Gleser equations based on femur length was compared (using standard error of the estimate (SEE) and mean percentage error (%error)) with others that have been derived from archaeological and recent European ancestry populations. Performance of ordinary least squares (OLS) and reduced major axis (RMA) versions of some of the equations was also evaluated. 14 male and 11 female femoral equations were investigated. For females, the original (OLS) Trotter and Gleser "White" equations produced the lowest SEE and %error. For the males, the most reliable was the RMA version of the Trotter and Gleser "White" WWII equation; the Trotter and Gleser equations based on the Korean War dead performed poorly. In an archaeological target population, stature estimation equations devised using archaeological reference populations from a similar ecogeographic zone did not perform better than those based on recent populations. There was no indication that either the RMA or OLS approach produced consistently lower SEE and %error, but the former more faithfully represented the variation in anatomically reconstructed stature present in the study group.

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.

Friedreich’s ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found that the levels of zinc, copper, manganese and aluminum were also increased in a Drosophila model of FRDA, and that copper and zinc chelation improve their impaired motor performance. By means of a candidate genetic screen, we identified that genes implicated in iron, zinc and copper transport and metal detoxification can restore frataxin deficiency-induced phenotypes. Taken together, these results demonstrate that the metal dysregulation in FRDA includes other metals besides iron, therefore providing a new set of potential therapeutic targets.