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INTRODUCTION: Genome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. METHODS: We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta‐analysis and tested their genetic risk score (GRS) performance in this admixed population. RESULTS: We detected apolipoprotein E ε4 as the single genome‐wide significant signal (odds ratio = 2.93 [2.37–3.63], P = 2.6 × 10−23). The meta‐analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD‐GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose. DISCUSSION: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. Highlights: This is the first genome‐wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile.Trans‐ethnic meta‐analysis reveals four new loci involving lysosomal function in AD.This is the first independent replication for TREM2L, IGH‐gene‐cluster, and ADAM17 loci.A genetic risk score (GRS) developed in Europeans performed well in this population.The higher the Native American ancestry the lower the GRS values. [ABSTRACT FROM AUTHOR]

Background: This study used admixture mapping to prioritize the genetic regions associated with Alzheimer's disease (AD) in African American (AA) individuals, followed by ancestry‐aware regression analysis to fine‐map the prioritized regions. Methods: We analyzed 10,271 individuals from 17 different AA datasets. We performed admixture mapping and meta‐analyzed the results. We then used regression analysis, adjusting for local ancestry main effects and interactions with genotype, to refine the regions identified from admixture mapping. Finally, we leveraged in silico annotation and differential gene expression data to prioritize AD‐related variants and genes. Results: Admixture mapping identified two genome‐wide significant loci on chromosomes 17p13.2 (p = 2.2 × 10−5) and 18q21.33 (p = 1.2 × 10−5). Our fine mapping of the chromosome 17p13.2 and 18q21.33 regions revealed several interesting genes such as the MINK1, KIF1C, and BCL2. Discussion: Our ancestry‐aware regression approach showed that AA individuals have a lower risk of AD if they inherited African ancestry admixture block at the 17p13.2 locus. Highlights: We identified two genome‐wide significant admixture mapping signals: on chromosomes 17p13.2 and 18q21.33, which are novel in African American (AA) populations.Our ancestry‐aware regression approach showed that AA individuals have a lower risk of Alzheimer's disease (AD) if they inherited African ancestry admixture block at the 17p13.2 locus.We found that the overall proportion of African ancestry does not differ between the cases and controls that suggest African genetic ancestry alone is not likely to explain the AD prevalence difference between AA and non‐Hispanic White populations. [ABSTRACT FROM AUTHOR]

Introduction: Apolipoprotein E (APOE) is considered the major susceptibility gene for developing Alzheimer's disease. However, the strength of this risk factor is not well established across diverse Hispanic populations. Methods: We investigated the associations among APOE genotype, dementia prevalence, and memory performance (immediate and delayed recall scores) in Caribbean Hispanics (CH), African Americans (AA), Hispanic Americans (HA) and non‐Hispanic White Americans (NHW). Multivariable logistic regressions and negative binomial regressions were used to examine these associations by subsample. Results: Our final dataset included 13,516 participants (5198 men, 8318 women) across all subsamples, with a mean age of 74.8 years. Prevalence of APOE ε4 allele was similar in CHs, HAs, and NHWs (21.8%–25.4%), but was substantially higher in AAs (33.6%; P < 0.001). APOE ε4 carriers had higher dementia prevalence across all groups. Discussion: APOE ε4 was similarly associated with increased relative risk of dementia and lower memory performance in all subsamples. [ABSTRACT FROM AUTHOR]

For establishing databases that capture the existing diversity in populations, the sample collection strategy is a determining factor and caution must be taken when choosing the suitable approach. Many researchers choose to restrict the sampling to individuals with inheritance for three generations in a specific geographic location. However, the appropriate database in a forensic context is the one representing the current population. We analyzed mtDNA composition across generations in populations from Colombia, Ecuador, and Paraguay. An overall genetic homogeneity was detected, with statistically significant differences on macrohaplogroup frequencies for few department/regions. [ABSTRACT FROM AUTHOR]

Genetic ancestry plays a role in asthma health disparities. Our aim was to evaluate the impact of ancestry on and identify genetic variants associated with asthma, total serum IgE level, and lung function. A total of 436 Peruvian children (aged 9-19 years) with asthma and 291 without asthma were genotyped by using the Illumina Multi-Ethnic Global Array. Genome-wide proportions of indigenous ancestry populations from continental America (NAT) and European ancestry from the Iberian populations in Spain (IBS) were estimated by using ADMIXTURE. We assessed the relationship between ancestry and the phenotypes and performed a genome-wide association study. The mean ancestry proportions were 84.7% NAT (case patients, 84.2%; controls, 85.4%) and 15.3% IBS (15.8%; 14.6%). With adjustment for asthma, NAT was associated with higher total serum IgE levels (P <.001) and IBS was associated with lower total serum IgE levels (P <.001). NAT was associated with higher FEV 1 percent predicted values (P <.001), whereas IBS was associated with lower FEV 1 values in the controls but not in the case patients. The HLA-DR/DQ region on chromosome 6 (Chr6) was strongly associated with total serum IgE (rs3135348; P = 3.438 × 10–10) and was independent of an association with the haplotype HLA-DQA1 ∼ HLA-DQB1 :04.01∼04.02 (P = 1.55 × 10–05). For lung function, we identified a locus (rs4410198; P = 5.536 × 10–11) mapping to Chr19, near a cluster of zinc finger interacting genes that colocalizes to the long noncoding RNA CTD-2537I9.5. This novel locus was replicated in an independent sample of pediatric case patients with asthma with similar admixture from Brazil (P =.005). This study confirms the role of HLA in atopy, and identifies a novel locus mapping to a long noncoding RNA for lung function that may be specific to children with NAT. [ABSTRACT FROM AUTHOR]

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In the present experimental work, the efforts have been made to use the aluminum composite panel waste collected from a construction site in high strength concrete. This waste of aluminum composite panel contains aluminum coversheets and core of low-density polyethylene. In this investigation, concrete with aluminum waste with varying percentages of 2, 4, 7, and 12% by weight of cement, and LDPE as an additive mass of 3.5, 7, 12.5, and 21% by weight of cement were studied. The concrete was tested in the fresh and hardened state. In the fresh state, concrete was tested for workability and expansion. In the hardened state, the concrete was tested for various strength, Non-destructive tests, and durability tests. Based on the results showed for 28 days, it can be reported that the use of replaced aluminum waste and LDPE as additive waste by weight of cement had a significant decrease in workability as well as strength. [ABSTRACT FROM AUTHOR]

Introduction: Apolipoprotein E (APOE) alleles are associated with cognitive decline, mild cognitive impairment (MCI), and Alzheimer's disease in Whites, but have weaker and inconsistent effects reported in Latinos. We hypothesized that this heterogeneity is due to ancestry‐specific genetic effects. Methods: We investigated the associations of the APOE alleles with significant cognitive decline and MCI in 4183 Latinos, stratified by six Latino backgrounds, and explored whether the proportion of continental genetic ancestry (European, African, and Amerindian) modifies these associations. Results: APOE ε4 was associated with an increased risk of significant cognitive decline (odds ratio [OR] = 1.15, P‐value = 0.03), with the strongest association in Cubans (OR = 1.46, P‐value = 0.007). APOE‐ε2 was associated with decreased risk of MCI (OR = 0.37, P‐value = 0.04) in Puerto Ricans. Amerindian genetic ancestry was found to protect from the risk conferred by APOE ε4 on significant cognitive decline. Discussion: Results suggest that APOE alleles' effects on cognitive outcomes differ across six Latino backgrounds and are modified by continental genetic ancestry. [ABSTRACT FROM AUTHOR]

Humans have domesticated hundreds of animal and plant species for thousands of years. Artwork, archeological finds, recorded accounts, and other primary sources can provide glimpses into the historic management practices used over the course of a given species' domestication history. Pairing historic data with newly available genomic data can allow us to identify where and how species were moved out of their native ranges, how gene flow may have occurred between distantly related populations, and quantify how selection and drift each contributed to levels of genetic diversity. Intersecting these approaches has greatly improved our understanding of many managed species; however, there has yet to be a thorough review in a managed insect. Here, we review the archival and genetic history of honey bees introduced to the mainland United States to reconstruct a comprehensive importation history. We find that since 1622, at least nine honey bee subspecies were imported from four of the five honey bee lineages and distributed en masse across the country. Many imported genotypes have genetic evidence of persisting today and may segregate non-randomly across the country. However, honey bee population genetic comparisons on the nationwide scale are not yet feasible because of gaps in genetic and archival records. We conclude by suggesting future avenues of research in both fields. [ABSTRACT FROM AUTHOR]

Background: Neutralizing (buffering) lidocaine 1%/epinephrine 1:100,000 solution (Lido/Epi) with sodium hydrogen carbonate (NaHCO3) (also called sodium bicarbonate) is widely used to reduce burning sensations during infiltration of Lido/Epi. Optimal mixing ratios have not been systematically investigated.Objectives: To determine whether a Lido/Epi:NaHCO3 mixing ratio of 3:1 (investigational medicinal product 1) causes less pain during infiltration than a mixing ratio of 9:1 (IMP2) or unbuffered Lido/Epi (IMP3).Methods: Double-blind, randomized, placebo-controlled, crossover trial (n = 2 × 24) with 4 investigational medicinal products (IMP1-4).Results: The 3:1 mixing ratio was significantly less painful than the 9:1 ratio (P = .044). Unbuffered Lido/Epi was more painful than the buffered Lido/Epi (P = .001 vs IMP1; P = .033 vs IMP2). IMP4 (NaCl 0.9% [placebo]) was more painful than any of the anesthetic solutions (P = .001 vs IMP1; P = .001 vs IMP2; P = .016 vs IMP3). In all cases, the anesthesia was effective for at least 3 hours.Limitations: Results of this trial cannot be generalized to other local anesthetics such as prilocaine, bupivacaine, or ropivacaine, which precipitate with NaHCO3 admixtures.Conclusions: Lido/Epi-NaHCO3 mixtures effectively reduce burning pain during infiltration. The 3:1 mixing ratio is significantly less painful than the 9:1 ratio. Reported findings are of high practical relevance, given the extensive use of local anesthesia today. [ABSTRACT FROM AUTHOR]

Asthma is a complex chronic inflammatory disease of the airways. Association studies between HLA and asthma were first reported in the 1970s, and yet, the precise role of HLA alleles in asthma is not fully understood. Numerous genome-wide association studies were recently conducted on asthma, but were always limited to simple genetic markers (single nucleotide polymorphisms) and not complex HLA gene polymorphisms (alleles/haplotypes), therefore not capturing the biological relevance of this complex locus for asthma pathogenesis. To run the first HLA -centric association study with asthma and specific asthma-related phenotypes in a large cohort of African-ancestry individuals. We collected high-density genomics data for the Consortium on Asthma among African-ancestry Populations in the Americas (N = 4993) participants. Using computer-intensive machine-learning attribute bagging methods to infer HLA alleles, and Easy-HLA to infer HLA 5-gene haplotypes, we conducted a high-throughput HLA-centric association study of asthma susceptibility and total serum IgE (tIgE) levels in subjects with and without asthma. Among the 1607 individuals with asthma, 972 had available tIgE levels, with a mean tIgE level of 198.7 IU/mL. We could not identify any association with asthma susceptibility. However, we showed that HLA-DRB1∗09:01 was associated with increased tIgE levels (P = 8.5 × 10−4; weighted effect size, 0.51 [0.15-0.87]). We identified for the first time an HLA allele associated with tIgE levels in African-ancestry individuals with asthma. Our report emphasizes that by leveraging powerful computational machine-learning methods, specific/extreme phenotypes, and population diversity, we can explore HLA gene polymorphisms in depth and reveal the full extent of complex disease associations. [ABSTRACT FROM AUTHOR]

Minority groups of African descent experience disproportionately greater asthma morbidity compared with other racial groups, suggesting that genetic variation from a common ancestry could influence exacerbation risk. We evaluated clinical trial measures in the context of self-reported race and genetic ancestry to identify risk factors for asthma exacerbations. One thousand eight hundred forty multiethnic subjects from 12 Asthma Clinical Research Network and AsthmaNet trials were analyzed for incident asthma exacerbations with Poisson regression models that included clinical measures, self-reported race (black, non-Hispanic white, and other), and estimates of global genetic African ancestry in a subgroup (n = 760). Twenty-four percent of 1840 subjects self-identified as black. Black and white subjects had common risk factors for exacerbations, including a history of 2 or more exacerbations in the previous year and FEV 1 percent predicted values, whereas chronic sinusitis, allergic rhinitis, and gastroesophageal reflux disease were only associated with increased exacerbation risk in black subjects. In the combined multiethnic cohort, neither race (P =.30) nor percentage of genetic African ancestry as a continuous variable associated with exacerbation risk (adjusted rate ratio [RR], 1.26 [95% CI, 0.94-1.70; P =.13]; RR per 1-SD change [32% ancestry], 0.97 [95% CI, 0.78-1.19; P =.74]). However, in 161 black subjects with genetic data, those with African ancestry greater than the median (≥82%) had a significantly greater risk of exacerbation (RR, 3.06 [95% CI, 1.09-8.6; P =.03]). Black subjects have unique risk factors for asthma exacerbations, of which global African genetic ancestry had the strongest effect. [ABSTRACT FROM AUTHOR]

Introduction: Although the relationship between APOE and Alzheimer's disease (AD) is well established in populations of European descent, the effects of APOE and ancestry on AD risk in diverse populations is not well understood. Methods: Logistic mixed model regression and survival analyses were performed in a sample of 3067 Caribbean Hispanics and 3028 individuals of European descent to assess the effects of APOE genotype, local ancestry, and genome‐wide ancestry on AD risk and age at onset. Results: Among the Caribbean Hispanics, individuals with African‐derived ancestry at APOE had 39% lower odds of AD than individuals with European‐derived APOE, after adjusting for APOE genotype, age, and genome‐wide ancestry. While APOE E2 and E4 effects on AD risk and age at onset were significant in the Caribbean Hispanics, they were substantially attenuated compared with those in European ancestry individuals. Discussion: These results suggest that additional genetic variation in the APOE region influences AD risk beyond APOE E2/E3/E4. [ABSTRACT FROM AUTHOR]

• Indel resource is provided for Central/South Asian Hazara and Chinese Bouyei. • Investigator® DIPplex panel is informative in Mongolian-descent Hazara. • Four datasets reveal genetic affinity between Hazaras and Turkic speakers. • East-West Eurasian admixed genetic profile is found in Hazaras. • qpAdm reveals 57.8% Mongolian-related ancestry in Hazara. Afghanistan and Pakistan are rich with a complex landscape of culture, linguistics, ethnicity and genetic legacy at the crossroads between Indian-Subcontinent and Central Asia. Hazara people have historically been suggested to be Mongolian decedents but seldom been genetically studied. To dissect the genetic structure and explore the forensic characteristics of Hazara people, we first genotyped 30 Insertion/deletion (Indel) markers in 468 samples from 2 aboriginal Hazara populations from Afghanistan and Pakistan, and 100 East Asian comparative Bouyei samples using the Investigator® DIPplex kit. Subsequently, we carried out a comprehensive population genetic analysis from four different datasets: 8895 30-Indel genotype data from 51 populations, 15,895 30-Indel allele frequency data from 98 populations, 1048 genotypes of 993 STRs and Indels from 53 HGDP populations and 2068 whole-genomes (621,799 single nucleotide polymorphisms) from 165 worldwide Human origin reference populations, to further unravel the genetic complexity between Hazara and worldwide human populations using various statistical analysis. We find that 30 Indels are in accordance with HWE, and informative and polymorphic in both Central Asians Hazara and East Asian Bouyei populations. The forensic combined probability of exclusion is larger than 0.9943 and the cumulative power of discrimination is larger than 0.99999999999936. These forensic parameters show the high level of diversity, which makes the Indel amplification system suitable for forensic routine work and may be used as a supplementary assay for routine forensic investigation. The results from pairwise genetic distances, MDS, PCA, and phylogenetic relationship reconstruction demonstrate that present-day Hazaras are genetically closer to the Turkic-speaking populations (Uyghur, Kazakh, and Kyrgyz) residing in northwest China than with other Central/South Asian populations and Mongolian. Outgroup and admixture f 3, f 4 , f 4 -ratio, qpWave, and qpAdm results further demonstrate that Hazara shares more alleles with East Asians than with other Central Asians and carries 57.8% Mongolian-related ancestry. Overall, our findings suggest that Hazaras have experienced genetic admixture with the local or neighboring populations and formed the current East-West Eurasian admixed genetic profile after their separation from the Mongolians. [ABSTRACT FROM AUTHOR]

Socioeconomic upheaval and environmental degradation pressured people in the Kayenta region of northeast Arizona to move south into large pueblo communities 800 years ago. This study tests if gene flow followed these migrations. Ten anatomical coordinate points were measured from left temporal bones of 204 individuals from Kayenta Region Black Mesa sites and three large pueblo communities. Results of Canonical Variate, Mahalanobis and Procrustes distances demonstrate significant distances between groups except Point of Pines Pueblo and Black Mesa. This suggests gene flow occurred among Kayenta region immigrants, their descendants at Point of Pines Pueblo, and people from earlier Black Mesa sites representing a pre-migration population. Diverse people buried at Grasshopper Pueblo indicate people of different origins co-resided there, yet gene flow was limited with other groups in this analysis. Migration, co-residence, and admixture that ultimately led to gene flow variably occurred in large pueblo communities south of the Mogollon Rim. [ABSTRACT FROM AUTHOR]

The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process data of ancestry informative markers (AIMs), which are selected based on large allele frequency differences between the populations of interest. However, population assignments of individuals with an admixed genetic background are challenging. Admixed individuals are genetic mosaics of chromosomal segments from the parental populations, which may lead to ambiguous or no population assignment. This is problematic since admixture events are a substantial part of human history. In this study, we present challenges of interpreting the evidential weight of population assignments. We used Genogeographer for likelihood ratio (LR) calculations and Brazilians as examples of admixed individuals. Brazilians are a very heterogenous population representing a three-way admixture between Native Americans, Europeans, and Africans. Ancestry informative markers were typed in a total of 589 individuals from Brazil using the Precision ID Ancestry Panel. The Brazilians were assigned to six metapopulations (East Asia, Europe, Middle East, North Africa, South-Central Asia, Sub-Saharan Africa) defined in the Genogeographer software and LRs were calculated if the AIM profile was not an outlier in all metapopulations and simulated two-way (1:1) admixtures of the six metapopulations. Population assignments failed for 55% of the samples. These samples had significantly higher genetic contributions from East Asia, South-Central Asia and Sub-Saharan Africa, and significantly lower genetic contributions from Europe. Most of the individuals with population assignments were assigned to the metapopulations of Middle East (58%) or North Africa (36%), followed by Europe (4%), South-Central Asia (1%), and Sub-Saharan Africa (1%). For 8% of the samples, population assignments were only possible when assignments to simulated two-way (1:1) admixtures of the six metapopulations were considered. Most of these individuals were assigned to two-way admixtures of North Africa, South-Central Asia, or Sub-Saharan Africa. Relatively low median likelihood ratios (LRs<1000) were observed when comparing population likelihoods for Europe, Middle East, North Africa, South-Central Asia, or simulated 1:1 admixtures of these metapopulations. Comparisons including East Asian or Sub-Saharan African populations resulted in larger median LRs (LR>1010). The results suggested that the Precision ID Ancestry Panel provided too little information and that additional markers specifically selected for sub-continental differentiation may be required for accurate population assignment of admixed individuals. Furthermore, a Genogeographer database with additional populations including admixed populations would be advantageous for interpretation of admixed AIM profiles. It would likely increase the number of population assignments and illustrate alternatives to the most likely population, which would be valuable information for the case officer when writing the case report. • 266 out of 589 Brazilians were assigned to populations using Genogeographer. • Brazilians were assigned to Middle East, North Africa, or admixture populations. • Higher Asian and African genetic contributions in samples that failed assignments. • Small likelihood ratios (<1000) may indicate admixture in individuals. [ABSTRACT FROM AUTHOR]

Highlights • “All-or-nothing” classifiers are not suitable for ancestry assignment in admixed individuals with multiple contributions. • STRUCTURE and our novel genetic distance algorithm (GDA) are suitable for predicting admixture. • STRUCTURE can be adopted for admixed individuals but accuracy decreases with degree of admixture. • Our GDA is a simpler alternative to STRUCTURE for admixed individuals. • The mean divergence per population per individual differed by a maximum of 10.7% between STRUCTURE and our GDA. Abstract Estimation of ancestral affiliation for human genotypes is now possible for major geographic populations and has been employed for forensic casework. Prediction algorithms, such as the Snipper Bayesian classifier, have the ability to classify non-admixed BGA in African (AFR), European (EUR), East Asian (EAS), and most Amerindian (NAM) individuals, but are not always appropriate for admixed individuals. Artificial admixture was simulated for all possible admixture ratios (1:1, 3:1, 2:1:1, and 1:1:1:1) from four grandparents. The simulated genotypes were used to test the accuracy of various prediction algorithms, most successful of which were the population genetics program, STRUCTURE, and a novel genetic distance algorithm (GDA). STRUCTURE was ideal for admixed individuals with 1:1 and 3:1 ratios from AFR, EUR, EAS, and NAM reference populations. Individuals with 1:1:1:1 BGA proportions were more accurately predicted by GDA. The use of hypothetical root genotypes improved the accuracy of GDA predictions for 1:1 and 3:1 admixtures and STRUCTURE classification of 1:1:1:1 admixture. The GDA requires only allele or genotype frequency values from each reference population, which offers a simpler sampling and input formatting procedure than is required by STRUCTURE. It can also be implemented in a spreadsheet without the need for long run times. [ABSTRACT FROM AUTHOR]

Highlights • Genetic structure and ancestry of African-Brazilian rural populations are described. • Data on the 46 AIM Indels is consistent with the Quilombos’ history and demography. • Quilombos are not uniform and their African ancestry surpasses the Brazilian average. • Rural Brazilian populations are diverse, yet under-represented in forensic databases. Abstract Rural communities comprise around 20% of Caribbean and South American populations, but are under-represented in autosomal marker databases. That deficiency is problematic for forensic genetics, as it relies on accurate descriptions of genetic variation and population structure. Brazilian populations were shaped by an intense, complex and heterogeneous process of admixture encompassing mainly Amerindians, Sub-Saharan Africans and Europeans. Quilombos are Brazilian populations with significant African descent that have remained genetically isolated to some extent from surrounding populations. In the reported study, we analyzed three rural Quilombo populations: Kalunga; Riacho de Sacutiaba e Sacutiaba; and Mocambo, along with a dataset from the HGDP-CEPH panel. Aiming to contribute to representative genetic databases of forensic interest, we analyse the three rural Quilombos populations and investigate how their genetic makeup relates to their history by analyzing an established forensic test, comprising 46 ancestry-informative (AIM) Indels. The panel was chosen for its high power in differentiating the main contributing populations of Brazil. Parental populations were selected from HGDP-CEPH data available at the forInDel allele frequency browser based on historic patterns applicable to the study populations and the amount of variability observed within and between continents. Our results show the main admixture components in the Quilombos are African and European. Those estimates are in accordance with previous analyses for both uniparental and autosomal markers. PCA, structure analysis and ancestry estimates indicate a correlation between the extent of isolation and the degree of admixture in the Quilombos: Kalunga is the most isolated population and accordingly has a higher African admixture component (67.3%). Sacutiaba is the smallest and most impacted by migration, with the highest European component (46.8%). Mocambo neighbors a Native American population and therefore has the highest Amerindian contribution (12.2%). Our results are consistent with the history and demography of Quilombos. The heterogeneity observed in these populations stresses the genetic diversity that Latin American and Caribbean rural populations can have and reiterates the need to describe them in greater detail. [ABSTRACT FROM AUTHOR]

Common DNA sequence variants rarely have a high-risk association with a common disease. When such associations do occur, evolutionary forces must be sought, such as in the association of apolipoprotein L1 (APOL1) gene risk variants with nondiabetic kidney diseases in populations of African ancestry. The variants originated in West Africa and provided pathogenic resistance in the heterozygous state that led to high allele frequencies owing to an adaptive evolutionary selective sweep. However, the homozygous state is disadvantageous and is associated with a markedly increased risk of a spectrum of kidney diseases encompassing hypertension-attributed kidney disease, focal segmental glomerulosclerosis, human immunodeficiency virus nephropathy, sickle cell nephropathy, and progressive lupus nephritis. This scientific success story emerged with the help of the tools developed over the past 2 decades in human genome sequencing and population genomic databases. In this introductory article to a timely issue dedicated to illuminating progress in this area, we describe this unique population genetics and evolutionary medicine detective story. We emphasize the paradox of the inheritance mode, the missing heritability, and unresolved associations, including cardiovascular risk and diabetic nephropathy. We also highlight how genetic epidemiology elucidates mechanisms and how the principles of evolution can be used to unravel conserved pathways affected by APOL1 that may lead to novel therapies. The APOL1 gene provides a compelling example of a common variant association with common forms of nondiabetic kidney disease occurring in a continental population isolate with subsequent global admixture. Scientific collaboration using multiple experimental model systems and approaches should further clarify pathomechanisms further, leading to novel therapies. [ABSTRACT FROM AUTHOR]

Introduction: Differences in the prevalence of dementia among populations and in the effect of apolipoprotein E (APOE) on the emergence of Alzheimer disease (AD), which is the main type of dementia, have been reported.Methods: This study estimated the ancestry of a group of individuals with late-onset Alzheimer disease (LOAD) (N=280) and established whether there were any differences when compared with a control group (N=357) in a sample of the Colombian population.Results: When the analyses were adjusted for known risk factors such as age, sex, presence of APOE[Latin Small Letter Open E]4, socioeconomic status, educational attainment, and place of birth, African ancestry was associated with an increased LOAD risk (odds ratio: 1.55; 95% confidence interval, 1.09-2.03; P=0.029), whereas Native American ancestry was associated with lower risk (odds ratio: 0.75; 95% confidence interval, 0.61-0.98; P=0.046), for every 10% increase in ancestry. In addition, there were significant differences in the proportion of Native American ancestry between carriers and noncarriers of the APOE[Latin Small Letter Open E]4 allele (Mann-Whitney U test, P=0.047), with noncarriers having higher mean Native American ancestry when compared with carriers.Conclusions: Our results are consistent with the presence of variants of African origin in the genome of the Colombian population and different from APOE[Latin Small Letter Open E]4 that represents a risk factor for the development of LOAD, whereas variants of Native American origin may be conferring protection. However, unknown environmental factors or epigenetic differences among continental groups could also explain the observed associations. [ABSTRACT FROM AUTHOR]

In recent years, strong evidence has emerged suggesting that insufficient duration, quality, and/or timing of sleep are associated with cardiovascular disease (CVD), and various mechanisms for this association have been proposed. Such associations may be related to endophenotypic features of the sleep homeostat and the circadian oscillator, or may be state-like effects of the environment. Here, we review recent literature on sleep, circadian rhythms and CVD with a specific emphasis on differences between racial/ethnic groups. We discuss the reported differences, mainly between individuals of European and African descent, in parameters related to sleep (architecture, duration, quality) and circadian rhythms (period length and phase shifting). We further review racial/ethnic differences in cardiovascular disease and its risk factors, and develop the hypothesis that racial/ethnic health disparities may, to a greater or smaller degree, relate to differences in parameters related to sleep and circadian rhythms. When humans left Africa some 100,000 years ago, some genetic differences between different races/ethnicities were acquired. These genetic differences have been proposed as a possible predictor of CVD disparities, but concomitant differences in culture and lifestyle between different groups may equally explain CVD disparities. We discuss the evidence for genetic and environmental causes of these differences in sleep and circadian rhythms, and their usefulness as health intervention targets. [ABSTRACT FROM AUTHOR]

Modern era is linked with global issues in limited energy resources and ecological degradation as hurdles for sustainable industrialization and urbanization. In these contexts, concretes are the most widely adopted construction materials to build supporting civil structural systems. However, massive productions of concretes significantly consume global energy resources and induce negative impacts to ecology which should be paid with serious attentions. Modern concrete productions are strived for not only producing highly performing materials but also being continuously more ecological and energy efficient. The uses of chemicals as additives and admixtures are recognized to be relatively more obvious approaches to answer the needs of modern concrete production for more energy efficiencies and carbon footprint reductions. Chemical additives are added to the cement and it is usually during the comminution stage. Chemical admixtures are intermixed together with other concrete constituents. In the current situation, the momentum of increasing concrete consumption contributes the energy requirement and creates negative ecological impacts massively spreading all over the world. The present study aims to identify the transformations and outlooks in additive and admixture chemical technologies used for modern and future concrete productions. The perspective discussed in this study can assist to formulate research needs for future developments of additive and admixture chemicals. [ABSTRACT FROM AUTHOR]

Latin American populations trace their ancestry mainly to Post Columbian admixture among Native Americans (NA), Europeans, and Africans during nearly 500 years. Although historic and anthropological records suggest that the Peninsula of Yucatan (Southeast, Mexico) has as a large NA origin principally of Mayan ethnicity, they have been poorly studied with autosomal STRs. Thus, the ancestral proportion of Mestizos (admixed) from the Peninsula of Yucatan, was assessed by genotyping 687 subjects for 22 autosomal STRs (Powerplex Fusion system). STR databases from other Mexican Mestizos were included for the admixture analysis (North, West, and Center regions), Hispanic Americans, in addition to European, NA, and African genetic pools as ancestral references. The best fit of population clusters obtained with Structure (K = 5), suggests that Mestizos from the Southeast are principally composed by NA (64.9%), followed by European (33.7%) and African (1.3%) ancestries. This was the highest among the compared Mexican Mestizo populations (range: 51.5–64.3%) and Hispanics (32.9%). Conversely, the European ancestry in the southeast is the lowest among Mexican-Mestizos (range: 33.7–48.5%) and Hispanics (60.2%). Differences with previous reports based on lesser number of STRs could be explained by intrapopulation structure due to socioeconomic and educational factors, as has been previously described in Mexican-Mestizos. This particular ancestral landscape justifies the creation of local STR databases for human identification purposes in Mexico. [ABSTRACT FROM AUTHOR]

In recent years, the growth in the industrial production and the consequent increase in the corresponding consumption have led to a fast decline in available natural resources. However, a high volume of the industrial production has generated a considerable amount of waste materials which have a number of adverse impacts on the environment. In this regard, the marble industry produces a huge amount of waste in the last decades and grows significantly in time. The marble waste is generally a highly polluting type of industrial wastes due to its highly alkaline nature and its manufacturing and processing techniques, all of which impose serious health threats to the surroundings. In this study, effects of waste marble on some durability properties such as water absorption and permeability, chloride penetration and carbonation, sulphate attack and abrasion resistance, and lastly performance at high temperature and freezing and thawing cycles of conventional or self-compacting concrete were investigated. As a result, it was found out that the use of waste marble in the conventional or self-compacting concrete mix as an admixture material or aggregate is suitable as it can improve durability properties of the concrete. Especially, properties of water absorption & permeability and resistance of chloride penetration & sulphate attack were improved by incorporation of waste marble in concrete. [ABSTRACT FROM AUTHOR]

Semi-flexible pavement (SFP) combines the best features of both flexible asphalt and rigid cement concrete pavement. SFP consists of a porous asphalt mixture skeleton with 25 %-35 % voids, filled with selected cement slurry. To better balance the flexible and rigid characteristics between the asphalt mixture skeleton and hardened cement paste in SFP, a further understanding of its cement slurry formulation design is required. Results indicate that the penetrant has a significant effect on the fluidity of cement slurry, improving the flowability of cement slurry. Polycarboxylene-based superplasticizer is a desirable penetrant with the dosage of 1 % by mass of cement. Also, the optimum water-cement ratio of 0.6 for cement slurry is proposed, at which the fresh cement slurry can fully penetrate into asphalt mixture skeleton, and improve the engineering properties of SFP. Additionally, styrene butadiene rubber (SBR) latex is an effective flexible admixture for cement slurry, and its dosage of 2 % by mass of cement is proposed. SBR latex improves the stability of fresh cement slurry and enhances the flexibility of hardened cement paste to reduce the cracks in SFP. At the micro level, the fiber-like hydrated products between SBR latex and cement particles improve the flexibility of hardened cement paste. This reduces the cracks on the interface between asphalt mixture skeleton and hardened cement paste when the ambient temperature changes. It is concluded that chemical admixtures are essential requirements for the production of high performance cement slurry. They allow the fresh cement slurry to fully penetrate the asphalt mixture skeleton with a lower water-cement ratio, improving engineering properties of SFP. The proposed cement slurry formulation can better meet the requirements of mechanical properties and durability characteristics of SFP. [ABSTRACT FROM AUTHOR]

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In view of the effectiveness and importance of viscoelastic material to seismic resistance and wind-resistant of building structure, with nitrile rubber as substrate, based on DMA means, the effect of mixture such as CPP, short carbon fiber, 200 graphite powder, flake graphite, mica powder and et al to the damping performance of NBR is discussed, and the influence of component ratio to the substrate is given. Research results meet two design requirements, firstly, the damping properties of materials was improved, and the loss factor was increased to 1. 26, the second, Tg is adjusted from 28. 2°C to 15°C, and the temperature range which tanδ value is higher than 0. 5. The research shows that, just added 200 graphite powder, it achieves the best effect. Improvement of particle size large of carbon black material such as FEF and HAF has little effect. [ABSTRACT FROM AUTHOR]

The colonization of Americas is thought to have occurred 15–20 thousand years ago (Kya), with little or no subsequent migration into South America until the European expansions beginning 0.5 Kya. Recently, however, haplogroup C3* Y chromosomes were discovered in two nearby Native American populations from Ecuador. Since this haplogroup is otherwise nearly absent from the Americas but is common in East Asia, and an archaeological link between Ecuador and Japan is known from 6 Kya, an additional migration 6 Kya was suggested. Here, we have generated high-density autosomal SNP genotypes from the Ecuadorian populations and compared them with genotypes from East Asia and elsewhere to evaluate three hypotheses: a recent migration from Japan, a single pulse of migration from Japan 6 Kya, and no migration after the First Americans. First, using forward-time simulations and an appropriate demographic model, we investigated our power to detect both ancient and recent gene flow at different levels. Second, we analyzed 207,321 single nucleotide polymorphisms from 16 Ecuadorian individuals, comparing them with populations from the HGDP panel using descriptive and formal tests for admixture. Our simulations revealed good power to detect recent admixture, and that ≥5% admixture 6 Kya ago could be detected. However, in the experimental data we saw no evidence of gene flow from Japan to Ecuador. In summary, we can exclude recent migration and probably admixture 6 Kya as the source of the C3* Y chromosomes in Ecuador, and thus suggest that they represent a rare founding lineage lost by drift elsewhere. [ABSTRACT FROM AUTHOR]

New DNA-based predictive tests for physical characteristics and inference of ancestry are highly informative tools that are being increasingly used in forensic genetic analysis. Two eye colour prediction models: a Bayesian classifier – Snipper and a multinomial logistic regression (MLR) system for the Irisplex assay, have been described for the analysis of unadmixed European populations. Since multiple SNPs in combination contribute in varying degrees to eye colour predictability in Europeans, it is likely that these predictive tests will perform in different ways amongst admixed populations that have European co-ancestry, compared to unadmixed Europeans. In this study we examined 99 individuals from two admixed South American populations comparing eye colour versus ancestry in order to reveal a direct correlation of light eye colour phenotypes with European co-ancestry in admixed individuals. Additionally, eye colour prediction following six prediction models, using varying numbers of SNPs and based on Snipper and MLR, were applied to the study populations. Furthermore, patterns of eye colour prediction have been inferred for a set of publicly available admixed and globally distributed populations from the HGDP-CEPH panel and 1000 Genomes databases with a special emphasis on admixed American populations similar to those of the study samples. [ABSTRACT FROM AUTHOR]

The Altai Mountains have been a long-term boundary zone between the Eurasian Steppe populations and South and East Asian populations. To disentangle some of the historical population movements in this area, 14 ancient human specimens excavated in the westernmost part of the Mongolian Altai were studied. Thirteen of them were dated from the Middle to the End of the Bronze Age and one of them to the Eneolithic period. The environmental conditions encountered in this region led to the good preservation of DNA in the human remains. Therefore, a multi-markers approach was adopted for the genetic analysis of identity, ancestry and phenotype markers. Mitochondrial DNA analyses revealed that the ancient Altaians studied carried both Western (H, U, T) and Eastern (A, C, D) Eurasian lineages. In the same way, the patrilineal gene pool revealed the presence of different haplogroups (Q1a2a1-L54, R1a1a1b2-Z93 and C), probably marking different origins for the male paternal lineages. To go further in the search of the origin of these ancient specimens, phenotypical characters (i.e. hair and eye color) were determined. For this purpose, we adapted the HIrisPlex assay recently described to MALDI-TOF mass spectrometry. In addition, some ancestry informative markers were analyzed with this assay. The results revealed mixed phenotypes among this group confirming the probable admixed ancestry of the studied Altaian population at the Middle Bronze Age. The good results obtained from ancient DNA samples suggest that this approach might be relevant for forensic casework too. [ABSTRACT FROM AUTHOR]

Summary: Genetic susceptibility to tuberculosis (TB) has been well established and this, taken together with variation in susceptibility observed between different geographic and ethnic populations, implies that susceptibility to TB may in part be affected by ethnicity. In a previous genome-wide TB case–control study (642 cases and 91 controls) of the admixed South African Coloured (SAC) population, we found a positive correlation between African San ancestry and TB susceptibility, and negative correlations with European and Asian ancestries. Since genome-wide data was available for only a small number of controls in the previous study, we endeavored to validate this finding by genotyping a panel of ancestry informative markers (AIMs) in additional individuals, yielding a data set of 918 cases and 507 controls. Ancestry proportions were estimated using the AIMs for each of the source populations of the SAC (African San, African non-San, European, South Asian and East Asian). Using logistic regression models to test for association between TB and ancestry, we confirmed the substantial effect of ancestry on TB susceptibility. We also investigated the effect of adjusting for ancestry in candidate gene TB association studies of the SAC. We report a polymorphism that is no longer significantly associated with TB after adjustment for ancestry, a polymorphism that is significantly associated with TB only after adjustment for ancestry, and a polymorphism where the association significance remains unchanged. By comparing the allele frequencies of these polymorphisms in the source populations of the SAC, we demonstrate that association results are likely to be affected by adjustment for ancestry if allele frequencies differ markedly in the source populations of the SAC. [Copyright &y& Elsevier]

Needle penetration tests have been used extensively for the assessment of setting and hardening in cementitious products. In the present contribution, we introduce an automatic multiple needle penetration device for the continuous measurement of resistance to penetration in the range of 1 to 36 h and up to 3000 N. The scope and application in concrete and sprayed concrete technology are illustrated. [ABSTRACT FROM AUTHOR]

Accumulated annual reservoir sedimentation in Taiwan was 14.6 million m3 in 2010, seriously endangering reservoir safety and the water supply. In addition, the sintering temperature of reservoir- sediment aggregates (RSAs) is very high, and very energy consuming consequently. Therefore, to explore the effects of admixtures on sintering behavior and perfomiance of the aggregates, two different admixtures are blended, waste-glass and municipal sewage sludge, into reservoir sediment to make artificial aggregates. Experimental results show that the lightweight characteristics of waste-glass/reservoir-sediment aggregates (WGRSAs) are more significant than those of sewage sludge/reservoir-sediment aggregates (SSRSAs). Moreover, as sintering temperature increases, the specific gravity of WGRSAs drops more apparently. The optimum sintering temperature of pure reservoir-sediment aggregates (PRSAs), SSRSAs, and WGRSAs was 1150°C, 1100°C, and 105 0°C, respectively. The PRSAs are normal weight with better strength; the WGRSAs are lightweight and energy-saving; and the SSRSAs are lightweight with normal strength. [ABSTRACT FROM AUTHOR]

Abstract: In this paper, the detailed experimental investigation was done to study the effect of partial replacement of cement by Fly Ash (FA) and Rice Husk Ash (RHA) in combine proportion started from 30% FA and 0% RHA mix together in concrete by replacement of cement with the gradual increase of RHA by 2.5% and simultaneously gradual decrease of FA by 2.5%. Last proportion was taken 15%FA and 15% RHA. The tests on hardened concrete were destructive in nature which includes compressive test on cube for size (150 x 150 x 150mm) at 7,14,28,56 and 90 days of curing as per IS: 516 — 1959, Flexural strength on beam (150 x 150 x700mm) at 28 days of curing as per IS: 516 1959 and split tensile strength on cylinder (150mm ø x 300mm) at 28 days of curing as per IS: 5816 1999. The work presented in this paper reports the effects on the behavior of concrete produced from cement with combination of FA and RHA at different proportions on the mechanical properties of concrete such as compressive strength, flexural strength, and split tensile strength. Investigation reported that compressive strength increases by 30.15% in compared with targeted strength and reduces by 8.73% compared with control concrete at 28 days, flexural strength increases by 4.57% compared with control concrete at 28 days, split tensile strength decreases by 9.58% compared with control concrete at 28 days, were obtained at combination of 22.5% FA and 7.5% RHA. Partial replacement of FA and RHA reduces the environmental effects, produces economical and eco-friendly concrete. [Copyright &y& Elsevier]

Abstract: Y-chromosome specific STR profiling is increasingly used in forensic casework. However, the strong geographic clustering of Y haplogroups can lead to large differences in Y-STR haplotype frequencies between different ethnicities, which may have an impact on database composition in admixed populations. Aboriginal people have inhabited Australia for over 40,000 years and until ∼300 years ago they lived in almost complete isolation. Since the late 18th century Australia has experienced massive immigration, mainly from Europe, although in recent times from more widespread origins. This colonisation resulted in highly asymmetrical admixture between the immigrants and the indigenes. A State jurisdiction within Australia has created an Aboriginal Y-STR database in which assignment of ethnicity was by self-declaration. This criterion means that some males who identify culturally as members of a particular ethnic group may have a Y haplogroup characteristic of another ethnic group, as a result of admixture in their paternal line. As this may be frequent in Australia, an examination of the extent of genetic admixture within the database was performed. A Y haplogroup predictor program was first used to identify Y haplotypes that could be assigned to a European haplogroup. Of the 757 males (589 unique haplotypes), 445 (58.8%) were identified as European (354 haplotypes). The 312 non-assigned males (235 haplotypes) were then typed, in a hierarchical fashion, with a Y-SNP panel that detected the major Y haplogroups, C–S, as well as the Aboriginal subgroup of C, C4. Among these 96 males were found to have non-Aboriginal haplogroups. In total, ∼70% of Y chromosomes in the Aboriginal database could be classed as non-indigenous, with only 169 (129 unique haplotypes) or 22% of the total being associated with haplogroups denoting Aboriginal ancestry, C4 and K* or more correctly K(xL,M,N,O,P,Q,R,S). The relative frequencies of these indigenous haplogroups in South Australia (S.A.) were significantly different to those seen in samples from the Northern Territory and Western Australia. In S.A., K* (∼60%) has a much higher frequency than C4 (∼40%), and the subgroup of C4, C4(DYS390.1del), comprised only 17%. Clearly admixture in the paternal line is at high levels among males who identify themselves as Australian Aboriginals and this knowledge may have implications for the compilation and use of Y-STR databases in frequency estimates. [Copyright &y& Elsevier]

Glacial and interglacial cycles are considered to have caused the fragmentation and admixture of populations in many organisms. A simple model incorporating such periodic changes of the population structure is analysed in order to investigate the behaviour of neutral genetic variation at one and two loci. The equilibrium is reached very quickly in terms of cycles if the length of a cycle is long, as would be expected of the glaciation cycles. Heterozygosity and linkage disequilibrium are shown to depend on the length of time of the fragmented and admixed phases, population sizes, and number (n) of subpopulations in the fragmented phase. If the population size is small in the fragmented phase and its duration is long, the squared correlation coefficient of two loci (a measure of linkage disequilibrium) just after the admixture is approximated by 1/(n-1) for n > 1. After admixture, the correlation decays at a rate of approximately twice the recombination rate. Therefore, if post-glaciation admixture created linkage disequilibrium, we expect to observe linkage disequilibrium even between moderately linked loci, and its decay pattern along the chromosome is very different from that in a random mating population at equilibrium. This is especially true in organisms with long generation times such as trees. [ABSTRACT FROM AUTHOR]

Abstract: In this study, a sample of 225 Guatemalan males, comprising 115 Mestizo-Guatemalan and 110 Mayan-Guatemalan, was typed for 17 Y-short tandem repeats (STRs) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1 and DYS385a/b). The haplotype diversity (H =1) and discrimination capacity (96.86%) were calculated. Analysis of molecular variance (AMOVA) demonstrated a low but significant interpopulation differentiation when compared with the results obtained when we confront the Mestizo and Mayan populations with the European populations. Furthermore, the genetic variability and differences among the American, African, Asian, and European populations were analyzed with the software Statistica 9.1. In addition, the genetic distances were also calculated using other published data. Reynolds and Slatkińs genetic distance was visualized using the multidimensional scaling (MDS) analysis. All the analysis performed locates the Mayan population next to the Native American population, while Guatemalan-Mestizo population was found to be between these populations and the European population, similar to other Mestizo one. The implementation of the estimation of individual ancestry proportions of the whole population sample showed the presence of two well-differentiated population groups. [Copyright &y& Elsevier]

Abstract: African Americans have a disproportionate burden of hypertension compared with white, whereas data on Hispanics is less well-defined. Mechanisms underlying these differences are unclear, but could be in part because of ancestral background and vascular function. We studied 660 African Americans and 635 Hispanics from the Multi-Ethnic Study of Atherosclerosis (MESA) with complete data on genetic ancestry, pulse pressure (PP), and large and small arterial elasticity (LAE, SAE). LAE and SAE were obtained using the HDI PulseWave CR-2000 Research CardioVascular Profiling Instrument. Among African Americans, higher European ancestry was marginally associated with higher LAE (P = .05) and lower PP (P = .05); results for LAE were attenuated after adjustment for potential mediators (P = .30). Among Hispanics, higher Native American ancestry was associated with higher SAE (P = .0006); higher African ancestry was marginally associated with lower SAE (P = .07). Ancestry was not significantly associated with LAE or PP in Hispanics. Among African Americans, higher European ancestry may be associated with less large artery damage, as measured by LAE and PP, although these associations warrant further study. Among Hispanics, ancestry is strongly associated with SAE. Future studies should consider genetic ancestry when studying hypertension in race/ethnic minorities, particularly among Hispanics. [Copyright &y& Elsevier]

Abstract: The utilization of black liquor, produced by the pulp and paper industry in Egypt, as a workability aid and set retarder admixture has been investigated. This approach may help eliminate the environmentally polluting black liquor waste. It also provides a low cost by-product, which can be widely used in the construction industry. The properties of black liquor and its performance on concrete at two different ratios of water to cement have been studied. The results revealed that black liquor from rice straw pulp increases concrete workability, improves compaction, and reduces honeycombing. Moreover, it retards the initial and final set time and enhances uniform compaction. The effect of incorporating small portions of silica fume has been investigated. The ageing effect of this material over a period of one year, to determine its safe storage period, has been studied. Finally, this admixture was found to comply with the relevant Egyptian standards. [Copyright &y& Elsevier]

Abstract: We examined the multifarious genetic heterogeneity of Europe and neighboring regions from a geographical perspective. We created composite maps outlining the estimated geographical distribution of major groups of genetically similar individuals on the basis of forensic Y-chromosomal markers. We analyzed Y-chromosomal haplotypes composed of 7 highly polymorphic STR loci, genotyped for 33,010 samples, collected at 249 sites in Europe, Western Asia and North Africa, deposited in the YHRD database (www.yhrd.org). The data set comprised 4176 different haplotypes, which we grouped into 20 clusters. For each cluster, the frequency per site was calculated. All geostatistical analysis was performed with the geographic information system GRASS-GIS. We interpolated frequency values across the study area separately for each cluster. Juxtaposing all 20 interpolated surfaces, we point-wisely screened for the highest cluster frequencies and stored it in parallel with the respective cluster label. We combined these two types of data in a composite map. We repeated this procedure for the second highest frequencies in Europe. Major groups were assigned to Northern, Western and Eastern Europe. North Africa built a separate region, Southeastern Europe, Turkey and Near East were divided into several regions. The spatial distribution of the groups accounting for the second highest frequencies in Europe overlapped with the territories of the largest countries. The genetic structure presented in the composite maps fits major historical geopolitical regions and is in agreement with previous studies of genetic frequencies, validating our approach. Our genetic geostatistical approach provides, on the basis of two composite maps, detailed evidence of the geographical distribution and relative frequencies of the most predominant groups of the extant male European population, examined on the basis of forensic Y-STR haplotypes. The existence of considerable genetic differences among geographic subgroups in Europe has important consequences for the statistical inference in forensic Y-STR haplotype analyses. [Copyright &y& Elsevier]

Straub et al. (2002b) located a susceptibility region for schizophrenia at the DTNBP1 locus. At least 40 studies (including one study in US populations) attempted to replicate this original finding, but the reported findings are highly diverse and at least five pathways by which dysbindin protein might be involved in schizophrenia have been proposed. This study aimed to test the association in two common US populations by using powerful analytic methods.Six markers at DTNBP1 were genotyped by mass spectroscopy (‘MassARRAY’ technique) in a sample of 663 individuals, including 346 healthy individuals European--Americans (EAs) and 48 African--Americans (AAs), and 317 individuals with schizophrenia (235 EAs and 82 AAs). Thirty-eight ancestry-informative markers were genotyped in this sample to infer the ancestry proportions. Diplotype, haplotype, genotype, and allele frequency distributions were compared between the cases and controls, controlling for possible population stratification, admixture, and sex-specific effects, and taking interaction effects into account, using a logistic regression analysis (an extended structured association method).Conventional case-control comparisons showed that genotypes of the markers P1578 (rs1018381) and P1583 (rs909706) were nominally associated with schizophrenia in EAs and in AAs, respectively. These associations became less or nonsignificant after controlling for population stratification and admixture effects (using structured association or regression analysis), and became nonsignificant after correction for multiple testing. However, regression analysis showed that the common diplotypes (ACCCTT/GCCGCC or GCCGCC/GCCGCC) and the interaction effects of haplotypes GCCGCC×GCCGCC significantly affected risk for schizophrenia in EAs, effects that were modified by sex. Fine-mapping using δ or J statistics located the specific markers (δ: P1328; J: P1333) closest to the putative risk sites in EAs.This study shows that DTNBP1 is a risk gene for schizophrenia in EAs. Variation at DTNBP1 may modify risk for schizophrenia in this population. [ABSTRACT FROM AUTHOR]

Rapid recent developments in DNA sequencing and genetic marker technologies call for the establishment of cost-effective, automated phenotyping assays for evolutionary biology and systematics, so that the effects of DNA polymorphisms and epigenetic changes on the phenotype can be evaluated. We discuss the use of digital image-based morphometrics in evolutionary biology and systematics with special emphasis on studies of taxa with porous genomes, i.e., taxa that do not conform to the traditional view of whole-genome isolation between species. We outline the phenomenon of the 'phenotypic mosaic' in taxa with porous genomes using well- documented examples from the literature and describe three important challenges arising for taxonomists: (I) character conflict in phylogenetic studies, (2) biased sampling of traits in morphological studies, and (3) cryptic ecological speciation. We demonstrate the use of geometric morphometrics using a combined molecular and morphometric dataset from an interspecific hybrid zone between two divergent Eurasian species of Populus, P. alba (white poplar) and P. tremula (European aspen). Elliptic Fourier analysis (EFA)-based morphometric data were collected for 527 leaf specimens from 84 trees with known genomic composition as determined by a set of 30 nuclear DNA microsatellites. In addition, to demonstrate the ease of scoring functionally relevant phenotypes via digital image analysis, quantitative differences in leaf reflectance were examined and their structural basis determined using scanning electron microscopy (SEM). The EFA results indicate a heritable inter-individual component for symmetric aspects and an important intra-individual component for asymmetric aspects of variation in leaf outlines. Symmetric traits displayed a striking variety of phenotypes in hybrids compared to their parental species, consistent with the notion of the phenotypic mosaic. Linear discriminant analysis of these morphometric traits revealed (1) clear differentiation between parental species and (2) divergence between recombinant hybrids and their sympatric backcross parent P. alba, mediated primarily by two P. tremula-like and two transgressive traits. Our results demonstrate the usefulness of geometric morphometrics to interrogate multiple independent phenotypic characters and detect individual traits affected by introgression and divergence in taxa with porous genomes. Digital image-based morphometrics holds great promise for large-scale studies of relationships between DNA polymorphism and phenotypes in evolutionary biology. [ABSTRACT FROM AUTHOR]

The inference of biogeographic ancestry (BGA) has become a focus of forensic genetics. Misinference of BGA can have profound unwanted consequences for investigations and society. We show that recent admixture can lead to misclassification and erroneous inference of ancestry proportions, using state of the art analysis tools with (i) simulations, (ii) 1000 genomes project data, and (iii) two individuals analyzed using the ForenSeq DNA Signature Prep Kit. Subsequently, we extend existing tools for estimation of individual ancestry (IA) by allowing for different IA in both parents, leading to estimates of parental individual ancestry (PIA), and a statistical test for recent admixture. Estimation of PIA outperforms IA in most scenarios of recent admixture. Furthermore, additional information about parental ancestry can be acquired with PIA that may guide casework. • We improve statistical methods for Biogeographical Ancestry inference to account for different admixture of both parents. • The resulting recent admixture model has a higher accuracy in estimating individual admixture in most cases. • We give a likelihood ratio test for recent admixture, which is both highly specific and sensitive for recent admixture. • We find evidence of recent admixture in the 1000 genomes dataset. • The self-report on recent admixture of two self-sequenced samples was only confirmed in one case. [ABSTRACT FROM AUTHOR]

BACKGROUND: Medications are frequently combined in the nebulizer cup, so it is important to determine their chemical and physical compatibility. OBJECTIVE: To determine the chemical and physical compatibility of levalhuterol with ipratropium bromide, cromolyn sodium, acetylcysteine sodium, and budesonide. METHODS: We mixed one dose of levalbuterol inhalation soluticm concentrate (1.25 nig/0.5 niL) with one dose of ipratropium bromide (0.5 mg/2.5 mL), cromolyn sodium (20 mg/2 mL), acetylcysteine sodium (1,000 nig/5 mL), or budesonide (0.5 mg/2 mL). Immediately after mixing the 2 drugs (time zero IT(,1), and again after 30 min at room temperature (T[sub30]), we visually inspected the admixtures, measured their pH, and conducted high-pressure liquid chromatography (HPLC). RESULTS: There was no evidence of physical incompatibility with these drugs combinations. With all the admixtures, both drugs were chemically stable for at least 30-min. Admixture pH bad not changed significantly at T(sub30]. Drug recovery was 93.2-102.6% of the initial or control values. CONCLUSIONS: The 2-drug admixtures we studied were compatible for at least 30 min at room temperature. [ABSTRACT FROM AUTHOR]

Abstract: Two Native American populations from North and northwest regions of Argentina (Toba and Colla) were analyzed for 17 Y chromosome short tandem repeat loci (Y-STRs), namely, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1. Over 357 allele transfers, two one-step mutations could be detected at DYS456 and GATA H4.1 loci. A new 16.1 ‘micro-variant’ allele was observed for DYS385, characterized by an insertion at the fifth GAAA repeat. We also observed two alleles at the DYS448 locus in three samples (two from Toba and one from Colla). A total of 34 and 16 different haplotypes were detected for Toba and Colla, respectively, the former with a haplotype diversity value of 0.9769±0.01, whereas 0.9497±0.02 for the latter. Significant population differences were observed between Colla and Toba, at least in part, due to a more prevalent European input in the Colla. In agreement with this observation is the fact that the genetic distances between Colla and Iberian populations are lower than those observed between Iberian and any other Native American population. The results of multiscaling dimensional analysis and genetic distances (Rst) among Native American population samples also reflect this fact. The data show the existence of clear population stratification in the Argentina, a fact that should be taken into account in forensic casework. [Copyright &y& Elsevier]

Abstract: Agricultural biotechnology (agbiotech) has intersected with a wider debate about ‘sustainable agriculture’, especially in Europe. Agbiotech was initially promoted as an alternative which would avoid or remedy past problems of intensive agriculture, but such claims were soon challenged. Agbiotech has extended the dominant agri-industrial paradigm, while critics have counterposed alternatives corresponding to an agrarian-based rural development paradigm. Amid controversy over environmental and health risks in the late 1990s, an extra issue emerged − the prospect that genetically modified (GM) material would become inadvertently mixed with non-GM crops. In response the European Commission developed a policy framework for ‘coexistence’ between GM, conventional and organic crops. This policy has aimed to ensure that farmers can freely choose among different production systems, which would develop side by side, yet specific proposals for coexistence rules favour some choices over others. Such rules have been contested according to different policy agendas, each promoting their model of future agriculture. Moreover, a Europe-wide network of regional authorities has promoted ‘GM-free zones’ as a territorial brand for green, localised, high-quality agri-food production, whose diverse qualities depend upon symbolic, immaterial characteristics. This alternative has been counterposed to the agri-industrial production of global commodities – symbolised by the European Union, especially its product authorisation procedure for the internal market. ‘Coexistence’ policy was intended to mediate policy conflicts over GM crops, yet it has become another arena for contending agricultural systems, which may not so readily co-exist in practice. Wherever an agrarian-based rural development paradigm gains local support, its alternative agricultures are in contradiction rather than coexistence with GM crops. [Copyright &y& Elsevier]

Abstract: The use of self-compacting concrete (SCC) with its improving production techniques is increasing every day in concrete production. However, mix design methods and testing procedures are still developing. Mix design criterions are mostly focused on the type and mixture proportions of the constituents. Adjustment of the water/cement ratio and superplasticizer dosage is one of the main key properties in proportioning of SCC mixtures. In this study, five mixtures with different combinations of water/cement ratio and superplasticizer dosage levels were investigated. Several tests such as slump flow, V-funnel, L-box were carried out to determine optimum parameters for the self-compactibility of mixtures. Compressive strength development, modulus of elasticity and splitting tensile strength of mixtures were also studied. [Copyright &y& Elsevier]

The use of fossil sediments and genetic markers has allowed reconstruction of range shifts of forest trees induced by past climatic changes. Independently, studies of the ecology and population biology of human-induced tree invasions have started to appear. Here, we review the literature on the ecology and the genetics of past and contemporary invasions of forest trees and argue that population research dealing with past (natural) or with ongoing (human-induced) invasions should be better integrated. In particular, we suggest using identical terms to describe artificial and natural invasions, as this should help integrate the two fields. We then discuss the modalities of introduction of tree species, the life history traits associated with invasiveness, the importance of long-distance seed dispersal, the establishment of small populations, the role of biotic interactions and the specific contribution of palaeoecology to the study of tree invasions. Next, we discuss genetic and evolutionary aspects, including the genetic characteristics of invasive woody species, the genetic consequences of dispersal (founder effects and admixture), shifts in dispersal-related traits and in mating system and the importance of hybridization and introgression during invasion. We then review models of the genetic consequences of tree invasions, examine the possibility for rapid adaptation of trees to new environmental conditions and discuss the relative importance of environmental versus genetic factors in controlling tree invasions. We conclude by proposing solutions for two central “genetic paradoxes” of invasions. The first one is the necessity for invasive species to adapt to new conditions, which seems difficult to reconcile with the expected loss of diversity through founder events. The second is the common observation of invasive species outcompeting native ones, which does not seem to fit with the belief in widespread local adaptation. [Copyright &y& Elsevier]