Worldwide Populations Research Articles

Overcoming the Challenges of Lyme Disease Diagnosis: The Role of Phage-based Testing

Tick-borne diseases are a growing concern worldwide, affecting both human and animal populations. Ticks are known to harbour a wide range of pathogens and are considered one of the most important vectors of diseases. Lyme disease, caused by Borrelia burgdorferi sensu lato, is the most common tick-borne disease in the US and Europe. However, accurate diagnosis of Lyme disease can be challenging due to the complex immune evasion strategies employed by Borrelia species and the limitations of existing diagnostic tests. To address this issue, researchers are exploring novel approaches, including the use of bacteriophages as diagnostic tools. Bacteriophages are highly specific and offer advantages over traditional methods for detecting bacteria, including Borrelia. In particular, the use of multicopy bacteriophages as molecular markers for Borrelia detection is a promising approach that may provide greater sensitivity than targeting single-copy bacterial genes. Nonetheless, the task of identifying trace amounts of bacteriophages in blood samples necessitates attention, and scientists are devising innovative techniques to surmount this hurdle. In summary, employing bacteriophages as a diagnostic tool for Lyme disease, by specifically targeting free circulating bacteriophages in blood samples, offers significant potential for enhancing patient outcomes and public health. However, additional rigorous scientific validation is required to definitively ascertain the efficacy and accuracy of using a phage-based methodology for detecting Borrelia in blood samples.

Changes Induced by the Containment Measures of the First COVID-19 Wave: A Scoping Review on Work-Family Balance Regarding Working Parents

In March 2020, COVID-19 was declared a worldwide pandemic. To limit its spread, governments and institutions have implemented drastic measures with major repercussions on the labor market, workers, and their families. Business, school, and daycare closures, as well as telework and home-schooling, have challenged working parents. In this unique context, researchers have examined COVID-19’s effects on work and family. Using the PRISMA-ScR guidelines, this scoping review explores, classifies, synthesizes, and analyzes the research findings from the first wave of the COVID-19 pandemic on work-family balance issues. More specifically, it examines how contextual forces hindered or facilitated working parents’ time management and work-family balance, along with coping strategies they implemented. Searches were conducted in 18 databases to identify relevant French or English peer-reviewed empirical articles published before April 2021. Articles should include information on parent workers at the first wave of the pandemic. Of the 570 papers identified, 56 were retained and synthesized. The articles cover worldwide populations, with one-quarter from the USA. Based on the Decision-action model, a thematic analysis allows identifying how the experience of the early months of the pandemic affects the life course of working parents and the work-family balance project considering the contextual forces to which they were exposed, and the strategies deployed to meet their needs. Findings reveal the fragility of the work-family balance among working parents and the disorganization caused by a major social crisis. They also highlight the importance of individual, organizational and governmental strategies to better support workers, families, businesses and communities.

HLA allele and haplotype frequencies in Kazakhstani Russians and their relationship with other populations.

HLA class I and class II genotypes from 947 Kazakhstani individuals of Russian origin were analyzed for investigating their most likely origin. The results were compared with similar data from other Russians (East and West), and also Worldwide populations, using standard genetic distances, neighbor-joining dendrograms, correspondence and haplotype analysis. Of the five HLA loci analyzed (HLA-A, HLA-C, HLA-B, HLA-DRB1, and HLA-DQB1) genotyped, 216 HLA alleles were identified. The most frequent alleles were A*02:01 (26.5%), B*07:02 (11.1%), C*04:01 (13.5%) and C*06:02 (12.1%), DRB1*07:01 (13.8%) and DRB1*15:01 (12.2%), and DQB1*03:01 (19.7%). Significant linkage disequilibrium was noted between all HLA pairs. DRB1*15:01 ~ DQB1*06:02 (10.5%), B*07:02 ~ C*07:02 (10.0%), B*07:02 ~ DRB1*15:01 (6.3%), and A*01:01 ~ B*08:01 (4.5%) were the most frequent two-locus haplotypes identified. Subsequent analyses showed that Kazakhstani Russians were closely related to West Russia-residing populations (Northwest Slavic, Vologda, Chelyabinsk, Moscow), East Europeans (Belarus Brest, Ukraine, Poland) and Scandinavians (Swedish, Finns), but distinct from East Russia-residing populations (Tuvians, Siberians from Chukotka, Kamchatka, and Ulchi) and East Mediterraneans (Levantines, Turks, North Macedonians, Albanians), and East Asians (Koreans, Japanese, Taiwanese, Mongolians). These results are in accordance with historical data indicating that the Russians of central Asia originate mainly from European Russia during the migratory flow of 18th and 19th centuries.

Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations

BackgroundIntrogression from extinct Neanderthal and Denisovan human species has been shown to contribute to the genetic pool of modern human populations and their phenotypic spectrum. Evidence of how Neanderthal introgression shaped the genetics of human traits and diseases has been extensively studied in populations of European descent, with signatures of admixture reported for instance in genes associated with pigmentation, immunity, and metabolic traits. However, limited information is currently available about the impact of archaic introgression on other ancestry groups. Additionally, to date, no study has been conducted with respect to the impact of Denisovan introgression on the health and disease of modern populations. Here, we compare the way evolutionary pressures shaped the genetics of complex traits in East Asian and European populations, and provide evidence of the impact of Denisovan introgression on the health of East Asian and Central/South Asian populations.ResultsLeveraging genome-wide association statistics from the Biobank Japan and UK Biobank, we assessed whether Denisovan and Neanderthal introgression together with other evolutionary genomic signatures were enriched for the heritability of physiological and pathological conditions in populations of East Asian and European descent. In EAS, Denisovan-introgressed loci were enriched for coronary artery disease heritability (1.69-fold enrichment, p=0.003). No enrichment for archaic introgression was observed in EUR. We also performed a phenome-wide association study of Denisovan and Neanderthal alleles in six ancestry groups available in the UK Biobank. In EAS, the Denisovan-introgressed SNP rs62391664 in the major histocompatibility complex region was associated with albumin/globulin ratio (beta=−0.17, p=3.57×10−7). Neanderthal-introgressed alleles were associated with psychiatric and cognitive traits in EAS (e.g., “No Bipolar or Depression”-rs79043717 beta=−1.5, p=1.1×10−7), and with blood biomarkers (e.g., alkaline phosphatase-rs11244089 beta=0.1, p=3.69×10−116) and red hair color (rs60733936 beta=−0.86, p=4.49×10−165) in EUR. In the other ancestry groups, Neanderthal alleles were associated with several traits, also including the use of certain medications (e.g., Central/South East Asia: indapamide – rs732632 beta=−2.38, p=5.22×10−7).ConclusionsOur study provides novel evidence regarding the impact of archaic introgression on the genetics of complex traits in worldwide populations, highlighting the specific contribution of Denisovan introgression in EAS populations.

Demographic, transmission, and clinical characteristics associated with human monkeypox infection, October 2022: a systematic analysis for World Health Organization database and brief review

The monkeypox (MPX) is an unusual viral disease which, until recently, has rarely been detected outside of Africa. A total of 71,237 confirmed cases of MPX, as of October 6th, 2022, had been discovered in 109 countries in the matter of months. The risk factors of MPX are men who have sex with the same gender (prevalence 90.0%, 95% CI, 89.5 to 90.4), sexual exposure to sex partners with MPX (prevalence 87.3%, 95% CI 6.7 to 87.8), human immunodeficiency virus-positive individuals (prevalence 49.1%, 95% CI, 48.4 to 49.8), people who have travel history to Africa (prevalence 16.9%, 95% CI, 16.2 to 17.7), hospitalization (prevalence 7.3%, 95% CI 7.0 to 7.6), health workers (prevalence 3.2%, 95% CI 2.9 to 3.5), admission to intensive care unit (prevalence 0.18%, 95% CI 0.11 to 0.28), and death (prevalence 0.03%, 95% CI 0.02 to 0.06). According to an international cohort of 60,510 individuals, the MPX can result in rash (all types; 83.6%, n=21,472), fever (57.8%, n=14,842), rash on the whole body (49.6%, n=12,730), genital rash (45.5%, n=11,696), headache (29.4%, n=7,556), fatigue (29.3%, n=7,523), lymphadenopathy(all types) (29.0%, n=7,453), muscle ache (26.9%, n=6,919), general lymphadenopathy (24.3%, n=6,235), local lymphadenopathy (18.6%, n=4,779), rash of unknown location (12.7%, n=3,271), sore throat, oral rash, chills, cough, vomiting, and other signs and/or symptoms in the order of frequency, with a subtle difference between men and women. The median delay between the date of onset and reporting was 6 days (interquartile range, 3 to 9). Results that an African endemic virus has been identified more in worldwide populations than in Africa has shocked scientists which led to the question of why an African disease is becoming a global illness and why the world is currently encountering this problem.

Virtual anthropology: Forensic applications to cranial skeletal remains from the Spanish Civil War

Biological and forensic anthropologists face limitations while studying skeletal remains altered by taphonomic alterations and perimortem trauma, such as in remains from the Spanish Civil War. However, virtual anthropology techniques can optimize the information inferred from fragmented and deformed remains by generating and restoring three-dimensional bone models. We applied a low-cost 3D modelling methodology based on photogrammetry to develop novel forensic applications of virtual 3D skull reconstruction, assembly, restoration and ancestry estimation. Crania and mandible fragments from five Spanish Civil War victims were reconstructed with high accuracy, and only one cranium could not be assembled due to extensive bone loss. Virtual mirroring successfully restored reconstructed crania, producing 3D models with reduced deformation and perimortem trauma. High correlation between traditional and virtual craniofacial measurements confirmed that 3D models are suitable for forensic applications. Craniometric databases of world-wide and Spanish populations were used to assess the potential of discriminant analysis to estimate population ancestry. Our protocol correctly estimated the continental origin of 86.7 % of 15 crania of known origin, and despite low morphological differentiation within European populations, correctly identified 54.5 % as Spanish and 27.3 % of them with high posterior probabilities. Two restored crania from the Civil War were estimated as Spanish, and one as a non-Spanish European. Results were not conclusive for one cranium and did not confirm previous archeological hypotheses. Overall, our research shows the potential to assess the presence of foreign volunteers in the Spanish Civil War and highlights the added value of 3D-virtual techniques in forensic anthropology.

Beyond lockdowns: a systematic review of the impacts of COVID-19 lockdowns on dietary pattern, physical activity, body weight, and food security.

COVID-19 lockdowns may have impacted dietary patterns and nutritional outcomes in many populations. The aim of this review was to evaluate the impacts of COVID-19 lockdowns on nutritional patterns, investigating behaviors in the periods before, during, and after lockdowns. This systematic review followed the PRISMA-P methodology. The articles included were identified by searching the key words in Web of Science, PubMed, and Scopus. The key words used in the search included: "COVID19" AND "diet*", "coronavirus" AND "diet*", "coronavirus 2" AND "diet*", "COVID19" AND "nutri*", "coronavirus" AND "nutri*", "coronavirus 2" AND "nutri*", "COVID19" AND "food". Twenty-two original studies were included in this review. Data extraction tables were created for recording author names, year of publication, location of study, duration, lockdown phase, design, methods, aims, number of participants, age, gender, health status, education, socioeconomic status, dietary patterns, food security, physical activity, body weight change or body mass index, and associations with sociodemographic characteristics. Impacts of lockdowns on eating patterns, physical activity, body weight or body mass index, and food security were the primary outcomes investigated. Secondary outcomes investigated were associations with sociodemographic characteristics. COVID-19 lockdowns were associated with significant changes in dietary and lifestyle behaviors of worldwide populations. Impacts were seen during and post-lockdown likely due to more time spent at home, working from home, decreased food availability and accessibility, and augmented stress associated with lockdown.

Global population genetics and diversity in the TAS2R bitter taste receptor family.

Bitter taste receptors (TAS2Rs) are noted for their role in perception, and mounting evidence suggests that they mediate responses to compounds entering airways, gut, and other tissues. The importance of these roles suggests that TAS2Rs have been under pressure from natural selection. To determine the extent of variation in TAS2Rs on a global scale and its implications for human evolution and behavior, we analyzed patterns of diversity in the complete 25 gene repertoire of human TAS2Rs in ∼2,500 subjects representing worldwide populations. Across the TAS2R family as a whole, we observed 721 single nucleotide polymorphisms (SNPs) including 494 nonsynonymous SNPs along with 40 indels and gained and lost start and stop codons. In addition, computational predictions identified 169 variants particularly likely to affect receptor function, making them candidate sources of phenotypic variation. Diversity levels ranged widely among loci, with the number of segregating sites ranging from 17 to 41 with a mean of 32 among genes and per nucleotide heterozygosity (π) ranging from 0.02% to 0.36% with a mean of 0.12%. F ST ranged from 0.01 to 0.26 with a mean of 0.13, pointing to modest differentiation among populations. Comparisons of observed π and F ST values with their genome wide distributions revealed that most fell between the 5th and 95th percentiles and were thus consistent with expectations. Further, tests for natural selection using Tajima’s D statistic revealed only two loci departing from expectations given D’s genome wide distribution. These patterns are consistent with an overall relaxation of selective pressure on TAS2Rs in the course of recent human evolution.

ITGA2 Gene Polymorphism Is Associated with Type 2 Diabetes Mellitus in the Kazakhstan Population.

Background and Objectives: Nowadays, every tenth adult in the world suffers from diabetes mellitus (DM). Diabetic retinopathy (DR) is the most common microvascular complication of type 2 DM (T2DM) and a leading cause of acquired blindness in middle-aged individuals in many countries. Previous studies have identified associations of several gene polymorphisms with susceptibility to microvascular complications of DM in various worldwide populations. In our study, we aimed to test the hypothesis of the associations of single nucleotide polymorphisms (SNP) of the VEGF (−2549I/D), RAGE (−429T/C and −374T/A), TCF7L2 (rs7903146), and ITGA2 (BglII) genes with a predisposition to DR among T2DM patients in the Kazakhstan population. Materials and Methods: We conducted a case–control study comparing the genotype distribution and allele frequencies between groups of DR patients (N = 94), diabetic patients without DR (N = 94), and healthy controls (N = 51). Genotypes were identified using the PCR-RFLP method. Results: In all cases, the genotype distribution corresponded to the Hardy–Weinberg equilibrium. The groups of diabetic patients with and without DR did not significantly differ in the genotype distribution of the SNPs studied. Differences between both groups of diabetic patients and healthy controls in four out of five SNPs were also not significant. At the same time, both groups of diabetic patients differed significantly from healthy controls in genotype distribution (p = 0.042 and 0.005, respectively) and allele frequencies (p = 0.021 and 0.002, respectively) of the BglII polymorphism in the ITGA2 gene. After adjusting for multiple comparisons, the differences between the group of diabetic patients without DR and the control group remained significant (pBonf = 0.027 for genotypes and pBonf = 0.009 for alleles). The BglII− allele was associated with diabetes: OR = 1.81 [1.09–2.99] for DR patients, and OR = 2.24 [1.34–3.75] for diabetic patients without DR. The association was also observed in the subset of Kazakhs. Conclusions: This study shows that the BglII polymorphism in the ITGA2 gene can be associated with T2DM but not with DR. According to our data, the risk allele for diabetes is the wild BglII− allele, and not the minor BglII+, which is considered as risky for DR.

Killer-Cell Immunoglobulin-like Receptor Diversity in an Admixed South American Population.

Natural Killer (NK) cells are innate immune cells that mediate antiviral and antitumor responses. NK cell activation and induction of effector functions are tightly regulated by the integration of activating and inhibitory receptors such as killer immunoglobulin-like receptors (KIR). KIR genes are characterized by a high degree of diversity due to presence or absence, gene copy number and allelic polymorphism. The aim of this study was to establish the distribution of KIR genes and genotypes, to infer the most common haplotypes in an admixed Colombian population and to compare these KIR gene frequencies with some Central and South American populations and worldwide. A total of 161 individuals from Medellin, Colombia were included in the study. Genomic DNA was used for KIR and HLA genotyping. We analyzed only KIR gene-content (presence or absence) based on PCR-SSO. The KIR genotype, most common haplotypes and combinations of KIR and HLA ligands frequencies were estimated according to the presence or absence of KIR and HLA genes. Dendrograms, principal component (PC) analysis and Heatmap analysis based on genetic distance were constructed to compare KIR gene frequencies among Central and South American, worldwide and Amerindian populations. The 16 KIR genes analyzed were distributed in 37 different genotypes and the 7 most frequent KIR inferred haplotypes. Importantly, we found three new genotypes not previously reported in any other ethnic group. Our genetic distance, PC and Heatmap analysis revealed marked differences in the distribution of KIR gene frequencies in the Medellin population compared to worldwide populations. These differences occurred mainly in the activating KIR isoforms, which are more frequent in our population, particularly KIR3DS1. Finally, we observed unique structural patterns of genotypes, which evidences the potential diversity and variability of this gene family in our population, and the need for exhaustive genetic studies to expand our understanding of the KIR gene complex in Colombian populations.

Inference of population structure and admixture proportion from Y chromosomal data of Chinese population.

In the past two decades, Y chromosome data has been generated for human population genetic studies. These Y chromosome datasets were produced with various testing methods and markers, thus difficult to combine them for a comprehensive analysis. In this study, we combine four human Y chromosomal datasets of Han, Tibetan, Hui, and Li ethnic groups. The dataset contains 27 microsatellites and 137 single nucleotide polymorphisms these populations share in common. We assembled a single dataset containing 2439 individuals from 25 nationwide populations in China. A systematic analysis of genetic distance and clustering was performed. To determine the gene flow of the studied population with worldwide populations, we modeled the ancestry informative markers. The reference panel was regarded as a mixture of South Asian (SAS), East Asian (EAS), European (EUR), African (AFR), and American (AMR) populations from 1000 Genomes data of Y chromosome using nonlinear data-fitting. We then calculated the admixture proportion of these four studied populations with 26 worldwide populations. The results showed that the Han and Hui have great genetic affinity, and Hui is the most admixed ethnic group, with 61.53% EAS, 34.65% SAS, 1.91% AFR, 1.56% AMR, and 0.04% EUR ancestry component (the AMR is highly admixed and thus should be ignored). All the other three ethnic groups contained more than 97% EAS ancestry component. The Li is the least admixed population in this study. The combined dataset in this study is the largest of this kind reported to date and proposes reference population data for use in future paternal genetic studies and forensic genealogical identification.

Whole mitochondrial genome analysis of Tai-Kadai-speaking populations in Southwest China

As a single matrilineal gene, human mitochondrial DNA plays a very important role in the study of population genetics. The whole mitogenome sequences of 287 individuals of the Tai-Kadai-speaking population in Guizhou were obtained. It was discovered that there were 82, 104, and 94 haplotypes in 83 Bouyei individuals, 107 Dong individuals, and 97 Sui individuals, respectively; and the haplotype diversity in Bouyei, Dong, and Sui groups was 1.000 ± 0.02, 0.9993 ± 0.0015, and 0.999 ± 0.002, respectively. The result of neutrality tests of the Tai-Kadai-speaking population in Guizhou showed significant negative values, and the analysis of mismatch distribution showed an obvious unimodal distribution. The results implied that Guizhou Tai-Kadai-speaking populations had high genetic diversities and may have experienced recent population expansion. In addition, the primary haplogroups of studied populations were M*, F, B, D, and R*, implying that they may origin from Southern China. The matrilineal genetic structure of the Tai-Kadai-speaking populations in Guizhou was analyzed by merging the mitogenome data of 79 worldwide populations as reference data. The results showed that there were close relationships between studied populations and other Tai-Kadai as well as some Austronesian populations in East and Southeast Asia. Overall, the mitogenome data generated in this study will provide important data for the study of genetic structure of Tai-Kadai speaking populations.

Global multi-center and multi-modal magnetic resonance imaging study of obsessive-compulsive disorder: Harmonization and monitoring of protocols in healthy volunteers and phantoms.

We describe the harmonized MRI acquisition and quality assessment of an ongoing global OCD study, with the aim to translate representative, well-powered neuroimaging findings in neuropsychiatric research to worldwide populations. We report on T1-weighted structural MRI, resting-state functional MRI, and multi-shell diffusion-weighted imaging of 140 healthy participants (28 per site), two traveling controls, and regular phantom scans. Human image quality measures (IQMs) and outcome measures showed smaller within-site variation than between-site variation. Outcome measures were less variable than IQMs, especially for the traveling controls. Phantom IQMs were stable regarding geometry, SNR, and mean diffusivity, while fMRI fluctuation was more variable between sites. Variation in IQMs persists, even for an a priori harmonized data acquisition protocol, but after pre-processing they have less of an impact on the outcome measures. Continuous monitoring IQMs per site is valuable to detect potential artifacts and outliers. The inclusion of both cases and healthy participants at each site remains mandatory.

Recombination events drives the emergence of Colombian Helicobacter pylori subpopulations with self-identity ancestry

ABSTRACT Helicobacter pylori have coevolved with mankind since its origins, adapting to different human groups. In America, H. pylori has evolved into several subpopulations. We analysed the genome of 154 Colombian strains along with 1,091 strains from worldwide populations to discern the ancestry and adaption to Colombian people. Population structure and ancestry was inferred with FineStructure and ChromoPainter. Phylogenetic relationship and the relative effect of recombination were analysing the core SNPs. Also, a Fst index was calculated to identify the gene variants with the strongest fixation in the Colombian subpopulations compared to their parent population hspSWEurope. FineStructure allowed the identification of two Colombian subpopulations, the previously described hspSWEuropeColombia and a novel subpopulation named hspColombia, that included three subgroups following their geographic origin. Colombian subpopulations represent an admixture of European, African and Indigenous ancestry; although some genomes showed a high proportion of self identity, suggesting an advanced adaption to these mestizo Colombian groups. We found that recombination is more important that punctual mutations in H. pylori genome diversity, 13.9 more important in hspSWEurope, 12.5 in hspSWEColombia and 10.5 in hspColombia, reflecting the divergence of these subpopulations. Fst analysis identified 82 SNPs fixed in 26 genes of the hspColombia subpopulation that encode for outer membrane and central metabolism proteins. Strongest fixation indexes were identified in genes encoding HofC, HopE, FrpB-4 and Sialidase A. These findings demonstrate that H. pylori has evolved in Colombia to give rise to subpopulations with a self identity ancestry, reflected in allele changes on genes encoding for outer membrane proteins.

Morphological variation and haplotype diversity of \(\textit{Halimeda macroloba}\) and \(\textit{H. opuntia}\) (Chlorophyta: Halimedaceae) from Southern Vietnam

Plasticity in morphology is a common phenomenon of aquatic plants. Halimeda (Chlorophyta: Halimedaceae) is usually supersaturated with calcium carbonate and is found in tropical and subtropical regions. Among members of Halimeda, both species including Halimeda macroloba and H. opuntia, often occur in different habitats. Haplotype diversity and network of Halimeda were reported in the different sea and oceanic systems. However, there are no reports of the genetic diversity of Halimeda in Vietnamese waters. This present study carried out sample collections along the coast of Southern Viet Nam, including the coast sites, offshore islands, and Spratly (Truong Sa) islands. External morphological and anatomical characteristics of two dominant species, Halimeda macroloba and H. opuntia, were caparisoned. The genetic marker tufA was applied to find the haplotype diversity and network among Vietnamese and worldwide populations. The results showed that high morphology exists in both species. In contrast, the genetic variation in H. macroloba is very low, and H. opuntia tends to form a distinct group. We suggest that more samples of two species from other locations in Northern Vietnam be included.

Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing.

Mitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, high mutation rate, high copy number, and no recombination. As the most powerful tool for studying the origin and evolution of modern humans, mtDNA has great significance in the research of population genetics and evolutionary genetics. Here, we provide new insights into the maternal genetic history of the Daur ethnic group by generating complete mitochondrial genomes from a total of 146 Daur individuals in China. We also collected the published complete mitochondrial genome sequences of 5,094 individuals from 56 worldwide populations as reference data to further explore the matrilineal genetic landscape of the Daur ethnic group. First, the haplotype diversity was 0.9943 ± 0.0019 and nucleotide diversity was 0.0428 ± 0.0210. The neutrality tests of the Daur group showed significant negative values and the mismatch distribution curve was obviously distributed in a unimodal pattern. The results showed that the Daur ethnic group has high genetic diversity and may have experienced recent population expansion. In addition, the main haplogroups of the Daur population were haplogroup D (31.51%), M* (20.55%), C (10.28%), F (7.53%), and B (6.85%), all of which were prevalent in northern China. It probably implies the northern Chinese origin of the Daur population. The PCA, F ST, and phylogenetic analysis results indicated that the Daur group formed a cluster with East Asian populations, and had few genetic differences with the populations in northern China. More importantly, we found that disease-related mutation sites of the mitochondrial genome may be related to ethnic groups, which may have important implications for the prevention and occurrence of specific diseases. Overall, this study revealed the complexity and diversity of the matrilineal genetic background of the Daur ethnic group. Meanwhile, it provided meaningful data for the research on the diversity of the human genome.

A inter-relação entre preocupações e sintomas depressivos em adultos com ansiedade generalizada

ABSTRACT Objective: Generalized anxiety disorder (GAD) is a chronic and disabling disorder associated with various impairments and shows a significant prevalence in the worldwide and Brazilian populations. This study aimed to investigate the longitudinal relationship of two symptoms relevant to the disorder (worry and depressive symptoms) in the context of a randomized clinical trial (RCT) by using a cross-lagged panel model (CLPM) analysis. Methods: A total of 92 adult patients with GAD were randomized to receive ten sessions of either acceptance‐based group behavioral therapy (ABBT) or nondirective supportive group therapy (NDST). Treatment had four time-point measures. Worries were measured using the Penn State Worry Questionnaire (PSWQ), and depression was measured using the Depression Anxiety Stress Scales (DASS-D). Results: The NDST model revealed significant paths from worry to depression (first wave) and from depression to worry (second wave). There was no other significant cross-lagged effect. These data show that there was an influence between symptoms only during one of the treatment groups, and without a homogeneous and constant pattern in any of the cross-lagged routes. Conclusion: A supportive group psychotherapy potentially interferes with the pattern of the direct relationship between worries and depressive symptoms in adults with GAD.

Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics.

MotivationMeasuring genetic diversity is an important problem because increasing genetic diversity is a key to making new genetic discoveries, while also being a major source of confounding to be aware of in genetics studies.ResultsUsing the UK Biobank data, a prospective cohort study with deep genetic and phenotypic data collected on almost 500 000 individuals from across the UK, we carefully define 21 distinct ancestry groups from all four corners of the world. These ancestry groups can serve as a global reference of worldwide populations, with a handful of applications. Here, we develop a method that uses allele frequencies and principal components derived from these ancestry groups to effectively measure ancestry proportions from allele frequencies of any genetic dataset.Availability and implementationThis method is implemented in function snp_ancestry_summary of R package bigsnpr.Supplementary information Supplementary data are available at Bioinformatics online.

Landscape and climatic predictors of Kentish Plover (Charadrius alexandrinus) distributions throughout Kazakhstan

Worldwide populations of shorebirds are declining, associated with a complex interplay of climate change, predation, human disturbance and habitat degradation. Comprehensive information on the distribution and breeding ecology of shorebird populations is crucial to understand and mitigate these threats. Kazakhstan, the largest country in Central Asia, comprises multiple flyways and breeding habitats for shorebird species, including the Kentish Plover Charadrius alexandrinus, but information on the population size and breeding distribution of shorebird species in the region is highly limited. We conducted a wide‐scale survey of Kentish Plover across Kazakhstan during the breeding season and utilize species distribution modelling to outline key anthropogenic and environmental variables that determine Kentish Plover presence. Our results reveal widespread distribution of Kentish Plovers across Kazakhstan but indicate that breeding densities are generally low. Our distribution modelling stresses the primary importance of proximity to water bodies and climate as the main predictors of Kentish Plover presence, but reveals a weak association with indicators of human disturbance. We utilize our distribution modelling to provide the first quantitative estimate of the breeding population size of Kentish Plover in Kazakhstan, which indicates a modest number of individuals given the size of the country (between 12 000 and 32 000 individuals). Our results indicate the key routes via which climate change may impact on population‐level distributions of Kentish Plover and provide a platform for future studies investigating species distributions across similarly vast and inaccessible regions.

Facial dysmorphologies in genetic disorders: exploring the ancestry component in a Colombian population

Currently there are more than 10,000 rare diseases that affect about 7% of the world's population. Up to 40% of rare genetic disorders present craniofacial dysmorphologies, which can vary from subtle facial anomalies to severe malformations. Visual assessment of facial dysmorphology is commonly used for clinical diagnosis, patient management and treatment monitoring. However, qualitative descriptions are usually vague and quantitative approaches using craniofacial phenotypes for the diagnosis of rare diseases are based on North American and European populations, disregarding the influence of population ancestry on facial variation, as in Latin‐America. In this study, we assessed facial dysmorphologies associated to three different genetic disorders (Down (DS), Morquio (MS) and Noonan syndrome (NS)) in a Latin‐American population from Cali (Colombia). We recorded the coordinates of 18 facial landmarks in 2D images from 34 pediatric patients (19 DS, 8 MS, 6 NS) and 75 controls and quantified facial differences between patients and control groups using Euclidean Distance Matrix Analysis (EDMA).Comparisons between control and syndromic phenotypes indicated that individuals diagnosed with DS and MS presented the largest percentage of dysmorphologies, with respectively 56.2% and 54.9% of significantly different facial traits. In NS, the percentage decreased to 12.4%. Each syndrome presented a characteristic facial pattern. In DS, all facial structures were affected, with a 6% increase of relative distance between the eyes and a 7‐10% reduction in facial height. The eyes and nose were most affected in MS, but not the mouth, with higher hypertelorism and facial reduction than in DS (9% and 8‐17%). In NS, facial differences were more subtle and affected mainly the eyes and mouth, reducing the relative distance between them from 1 to 4% in patients as compared to controls. Our study provides a precise quantitative comparison of facial dysmorphologies in three genetic disorders that in the future can be compared with other world‐wide populations to test whether facial traits associated to disease are altered by different evolutionary and adaptive histories of human populations.