Individuals Of Different Populations Research Articles

Search for signals of positive selection of circadian rhythm genes PER1, PER2, PER3 in different human populations.

The diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sleep and wakefulness, dietary variations, and others. Whole-genome data from individuals of different populations make it possible to determine the specific genetic sites responsible for adaptations and to further understand the genetic structure underlying human adaptive characteristics. In this article, we searched for signals of single nucleotide polymorphisms (SNPs) under selection pressure in people of different populations. To identify selection signals in different population groups, the PER1, PER2 and PER3 genes that are involved in the coordination of thermogenic functions and regulation of circadian rhythms, which is directly reflected in the adaptive abilities of the organism, were investigated. Data were analyzed using publicly available data from the 1000 Genomes Project for 23 populations. The Extended Haplotype Homozygosity Score statistical method was chosen to search for traces of selection. The comparative analysis performed identified points subject to selection pressure. The SNPs were annotated through the GWAS catalog and manually by analyzing Internet resources. This study suggests that living conditions, climate, and other external factors directly influence the genetic structure of populations and vary across races and geographic locations. In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer's disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease.

Single nucleotide variants in the CCL2, OAS1 and DPP9 genes and their association with the severity of COVID-19 in an Ecuadorian population.

COVID-19 has a broad clinical spectrum, ranging from asymptomatic-mild form to severe phenotype. The severity of COVID-19 is a complex trait influenced by various genetic and environmental factors. Ethnic differences have been observed in relation to COVID-19 severity during the pandemic. It is currently unknown whether genetic variations may contribute to the increased risk of severity observed in Latin-American individuals The aim of this study is to investigate the potential correlation between gene variants at CCL2, OAS1, and DPP9 genes and the severity of COVID-19 in a population from Quito, Ecuador. This observational case-control study was conducted at the Carrera de Biologia from the Universidad Central del Ecuador and the Hospital Quito Sur of the Instituto Ecuatoriano de Seguridad Social (Quito-SUR-IESS), Quito, Ecuador. Genotyping for gene variants at rs1024611 (A>G), rs10774671 (A>G), and rs10406145 (G>C) of CCL2, OAS1, and DPP9 genes was performed on 100 COVID-19 patients (43 with severe form and 57 asymptomatic-mild) using RFLP-PCR. The genotype distribution of all SNVs throughout the entire sample of 100 individuals showed Hardy Weinberg equilibrium (P=0.53, 0.35, and 0.4 for CCL2, OAS1, and DPP9, respectively). The HWE test did not find any statistically significant difference in genotype distribution between the study and control groups for any of the three SNVs. The multivariable logistic regression analysis showed that individuals with the GG of the CCL2 rs1024611 gene variant had an increased association with the severe COVID-19 phenotype in a recessive model (P = 0.0003, OR = 6.43, 95% CI 2.19-18.89) and for the OAS1 rs10774671 gene variant, the log-additive model showed a significant association with the severe phenotype of COVID-19 (P=0.0084, OR=3.85, 95% CI 1.33-11.12). Analysis of haplotype frequencies revealed that the coexistence of GAG at CCL2, OAS1, and DPP9 variants, respectively, in the same individual increased the presence of the severe COVID-19 phenotype (OR=2.273, 95% CI: 1.271-4.068, P=0.005305). The findings of the current study suggests that the ethnic background affects the allele and genotype frequencies of genes associated with the severity of COVID-19. The experience with COVID-19 has provided an opportunity to identify an ethnicity-based approach to recognize genetically high-risk individuals in different populations for emerging diseases.

Association of TGFB3 and FGFs gene polymorphisms with cleft lip with or without cleft palate a systematic review

Objectives: The objective of this study was to conduct a systematic review of the possible association between transforming growth factor B3 (TGFB3) and fibroblast growth factors (FGFs) gene polymorphisms and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Material and Methods: Two reviewers independently screened studies by examining all titles and abstracts. Studies were included if they met the following criteria: The outcome of interest was NSCL/P; the polymorphisms studied were TGFB3 and FGF; they presented sufficient data, that is, allele/genotype frequency between cases and controls; or their odds ratio with 95% confidence interval. Study quality was independently assessed by a risk of bias assessment for genetic association studies. Results: Based on the inclusion criteria, we have selected a total of six articles (four for TGFB and two for FGF). Particularly for the TGFB gene, we have found significant results in exon 4 in the variant g.15812T>G, and in the single-nucleotide polymorphisms rs2300607 A/T, in the distribution between cases and controls. On the other hand, for the FGF gene, we observed a statistically significant in the genotype rs34010 CA. Conclusion: None of the genetic variations that show the association is verified in different populations; therefore, there is not enough scientific validation regarding the association between TGFB and FGF polymorphism and NSCL/P. The findings of the different studies suggest the need for further investigations with samples composed of a larger number of individuals in different populations, which should be performed with all the standards for genetic studies, thus allowing an understanding of the molecular basis of the disease.

A Multi-Transformation Evolutionary Framework for Influence Maximization in Social Networks

Influence maximization is a crucial issue for mining the deep information of social networks, which aims to select a seed set from the network to maximize the number of influenced nodes. To evaluate the influence spread of a seed set efficiently, existing studies have proposed transformations with lower computational costs to replace the expensive Monte Carlo simulation process. These alternate transformations, based on network prior knowledge, induce different search behaviors with similar characteristics to various perspectives. Specifically, it is difficult for users to determine a suitable transformation a priori. This article proposes a multi-transformation evolutionary framework for influence maximization (MTEFIM) with convergence guarantees to exploit the potential similarities and unique advantages of alternate transformations and to avoid users manually determining the most suitable one. In MTEFIM, multiple transformations are optimized simultaneously as multiple tasks. Each transformation is assigned an evolutionary solver. Three major components of MTEFIM are conducted via: 1) estimating the potential relationship across transformations based on the degree of overlap across individuals of different populations, 2) transferring individuals across populations adaptively according to the inter-transformation relationship, and 3) selecting the final output seed set containing all the transformation's knowledge. The effectiveness of MTEFIM is validated on both benchmarks and real-world social networks. The experimental results show that MTEFIM can efficiently utilize the potentially transferable knowledge across multiple transformations to achieve highly competitive performance compared to several popular IM-specific methods. The implementation of MTEFIM can be accessed through the external link in the footnote.

Genetic diversity and population structure of critically endangered Dactylorhiza hatagirea (D. Don) Soo from North-Western Himalayas and implications for conservation

Dactylorhiza hatagirea (D. Don) Soo is medicinally important herb, which is widely used in ayurveda, unani, and folk/traditional medicine system to cure diseases. Due to its immense ethno-botanical properties, the trade of D. hatagirea is estimated to be USD 1 billion/year in India. Unfortunately, due to overexploitation of the herb from the wild, has resulted in dwindling of its populations in their natural habitats, which has led to its critically endangered status. Molecular genetic studies are still scarce in D. hatagirea, therefore, in current study, genetic diversity and population structure analysis was carried out of 10 populations (48 individuals) collected from three cold desert regions (2527 m–3533 m amsl) of Himachal Pradesh. Mean observed heterozygosity (Ho) and expected heterozygosity (He) was recorded 0.185 and 0.158. The maximum values for Fst (fixation index) and Nm (gene flow) were recorded 0.945 at locus KSSR14 and 1.547 at locus KSSR 4 respectively. Mean genetic differentiation (Fst) coefficient was estimated to 0.542. Overall, low levels of genetic diversity was recorded in the populations of D. hatagirea, might be due to habitat specificity (alpine meadows ecosystem; humid laden undulating habitat), restricted distribution and high anthropogenic activities. However, two populations viz., Bathad and Rangrik were recorded with high diversity and largest number of private alleles, stipulates that these populations might have high evolutionary significance and response to selection. Dendrogram analysis revealed that the populations of D. hatagirea were clustered into four major clusters, which was supported by Bayesian based STRUCTURE predictions. Clustering pattern of majority individuals of different populations revealed consistency with their geographic origin. Outcomes of current study reveals the status of genetic diversity and population structure of endangered D. hatagirea, which can be futuristically utilised for appropriate planning of conservation strategies.

Study of mental foramen in patients coming to government dental hospital, Jamnagar

Introduction: The Mental foramen is one of two funnel-like openings located on the antero- lateral aspect of the body of the mandible. There are variations in it’s anatomical position in different individuals of different populations. Such variations can cause difficulty in diagnosis of peri-apical lesions. It may result in failure of regional anaesthesia during clinical and surgical procedures required to be administered in the mandibular and mental region. Aims And Objectives: This study was performed to determine the position and bilateral positional symmetry of mental foramen on a digital orthopantomogram (OPG) of the population visiting Government Dental Hospital, Jamnagar. The objective was to document the frequency of location of mental foramen in relation with several teeth in close possible proximity to the mental foramen on digital panoramic radiographs. Materials And Methods: The study was conducted in the Department of Oral Medicine and Radiology, Government Dental College and Hospital, Jamnagar. Radiographic study of mental foramen of 1270 participants was carried out by analysing their digital orthopantomographs. Mental foramina were analysed with respect to their positions and bilateral symmetry.

Widespread coexistence of self-compatible and self-incompatible phenotypes in a diallelic self-incompatibility system in Ligustrum vulgare (Oleaceae).

The breakdown of self-incompatibility (SI) in angiosperms is one of the most commonly observed evolutionary transitions. While multiple examples of SI breakdown have been documented in natural populations, there is strikingly little evidence of stable within-population polymorphism with both inbreeding (self-compatible) and outcrossing (self-incompatible) individuals. This absence of breeding system polymorphism corroborates theoretical expectations that predict that in/outbreeding polymorphism is possible only under very restricted conditions. However, theory also predicts that a diallelic sporophytic SI system should facilitate the maintenance of such polymorphism. We tested this prediction by studying the breeding system of Ligustrum vulgare L., an insect-pollinated hermaphroditic species of the Oleaceae family. Using stigma tests with controlled pollination and paternity assignment of open-pollinated progenies, we confirmed the existence of two self-incompatibility groups in this species. We also demonstrated the occurrence of self-compatible individuals in different populations of Western Europe arising from a mutation affecting the functioning of the pollen component of SI. Our results show that the observed low frequency of self-compatible individuals in natural populations is compatible with theoretical predictions only if inbreeding depression is very high.

Subterranean Waters of Yucatán Peninsula, Mexico Reveal Epigean Species Dominance and Intraspecific Variability in Freshwater Ostracodes (Crustacea: Ostracoda)

The Yucatán Peninsula is a karstic region, rich in subterranean environments with a diverse crustacean stygobiont fauna. In order to gain insights into the biological evolution of the subterranean environments of this region, we evaluated the ostracode species composition of caves and cenotes in five independent sampling campaigns (2008, 2013, 2017–2019). Using morphometric analyses, we evaluated inter-population morphological variability; using molecular analysis based on mitochondrial COI and nuclear 18S rDNA, we evaluated genetic differentiation in selected species. The observed fauna is composed of 20 (epigean) species, presenting a lack of strict stygobionts. Morphometric analyses discriminated up to three morphotypes in each of the three most abundant species: Cytheridella ilosvayi, Alicenula sp. and Cypridopsis vidua. High intraspecific morphological variability was found either in shape or size. Phylogenetic analysis based on COI demonstrated the existence of three lineages on C. ilosvayi, with high support (>0.9). The 18S rDNA sequences were identical among individuals of different populations. A lack of congruence between the genetic markers precluded us from postulating speciation in subterranean environments. It is likely that Late Pleistocene—Early Holocene climate variation related to sea level and precipitation was forcing agent for epigean ostracode dominance in subterranean environments of the Peninsula.

Mathematical formalization of the process of crossing individuals of different populations within the framework of the quasispecies model

This paper presents a mathematically formalized description of the process of crossing individuals of different populations as a break of the first kind of functional dependencies of the population state vector components. In this case, the validity of the quasispecies model as a model of population development was assumed. The practical interpretation of a mathematically formalized description is considered on the example of an artificial population of Lymantria dispar. The results of the work can be used to assess the development parameters of both natural and artificial populations.

STUDY OF THE CAUSES OF VARIATION IN THE PROPORTIONS OF RE-SPAWNING INDIVIDUALS IN ATLANTIC SALMON POPULATIONS (SALMO SALAR (L., 1758))

The Atlantic salmon belonging to populations of four rivers in the Murmansk Кegion – the Kola, the Tuloma, the Ponoy and the Varzuga, was the object of the study. The paper investigates the reasons for the population dynamics of re-spawning individuals in the spawning salmon populations in the said rivers by searching for statistically significant relationships between the proportion of re-spawning individuals and abiotic factors. Correlation analysis was used as the mathematical research tool. The authors considered their own and literature data on the timing of downstream migration of kelts and their return to repeat spawning, as well as the age structure of the re-spawning subpopulation. Comparison of interannual changes in the proportion of re-spawning individuals in different populations did not reveal any synchronism in the dynamics of this indicator. This fact suggests there exist factors specific to each population that regulate the number of re-spawning salmon individuals. Further analysis showed that in some cases the proportion of re-spawning individuals demonstrated a weak correlation with water temperature in the sea, in other cases – with temperature and water level in the river. In particular, water level has great influence on the proportion of re-spawning individuals in the Kola and Varzuga rivers, but this influence is alternating: while in the Kola River the number of re-spawning individuals in Atlantic salmon populations is increased by a high level of flood water, in the Varzuga River, on the contrary, it is decreased by this factor. The explanation lies in the different hydrological characteristics of the rivers: in the shallow Varzuga, high flood leads to ice clogging, which can cause a mass death of kelts. The number of re-spawning salmon depends on the overall state of reproduction: the higher the risk of anthropogenic impact, the smaller the relative number of re-spawning individuals, and the simpler the age structure of the spawning stock.

Sustained Natural Apophyseal Glides versus Positional Release Therapy in the Treatment of Chronic Mechanical Neck Dysfunction

Background: Mechanical neck dysfunction (MND) is a common disorder prevailing among the individuals of different populations. It is characterized by pain and limited range of motion (ROM) which, in turn, affects the activities of daily living and quality of life. Although manual therapy is commonly used in MND treatment to restore a range of motion and reduce pain, some techniques have low evidence in treating MND. Aim: This study was conducted to compare the effect of sustained natural apophyseal glides (SNAGs) with positional release therapy (PRT) on cervical ROM, pain intensity, and functional disability in patients with chronic mechanical neck dysfunction. Methods: One hundred and twenty patients from both genders, where they were divided randomly into three groups. Group A received conventional physical therapy, group B received conventional therapy in addition to SNAGs, and group C received conventional therapy plus PRT three times per week for eight weeks. The universal goniometer was used to measure cervical ROM, numeric pain rating scale (NPRS) was used to measure pain intensity, and neck disability index was used to measure cervical function disability at two intervals, pretreatment and post-treatment. Results: The results showed significant difference in the cervical ROM, NPRS, and NDI between the three groups (p < 0.001) in favor of the group B. Conclusion: SNAGs with conventional physical therapy have been proven to be effective method in treating patients with chronic mechanical neck dysfunction patients.

Migration trajectories of the diamondback moth Plutella xylostella in China inferred from population genomic variation.

The diamondback moth (DBM), Plutella xylostella (Lepidoptera: Plutellidae), is a notorious pest of cruciferous plants. In temperate areas, annual populations of DBM originate from adult migrants. However, the source populations and migration trajectories of immigrants remain unclear. Here, we investigated migration trajectories of DBM in China using genome-wide single nucleotide polymorphisms (SNPs) genotyped using double-digest RAD (ddRAD) sequencing. We first analyzed patterns of spatial and temporal genetic structure among southern source and northern recipient populations, then inferred migration trajectories into northern regions using discriminant analysis of principal components (DAPC), assignment tests, and spatial kinship patterns. Temporal genetic differentiation among populations was low, indicating that sources of recipient populations and migration trajectories are stable. Spatial genetic structure indicated three genetic clusters in the southern source populations. Assignment tests linked northern populations to the Sichuan cluster, and central-eastern populations to the southern and Yunnan clusters, indicating that Sichuan populations are sources of northern immigrants and southern and Yunnan populations are sources of central-eastern populations. First-order (full-sib) and second-order (half-sib) kin pairs were always found within populations, but ~ 35-40% of third-order (cousin) pairs were found in different populations. Closely related individuals in different populations were found at distances of 900-1500 km in ~ 35-40% of cases, while some were separated by > 2000 km. This study unravels seasonal migration patterns in the DBM. We demonstrate how careful sampling and population genomic analyses can be combined to help understand cryptic migration patterns in insects. © 2020 Society of Chemical Industry.

Population genetics and gene flow of the seagrass, Syringodium isoetifolium based on Start codon targeted (SCoT) marker from Palk Bay and Chilika Lake, India

The large-scale population genetics study of marine angiosperm, Syringodium isoetifolium from India is the first report based on the Start Codon Targeted (SCoT) marker. The present aim was to address the genetic population structure of S. isoetifolium in relation to the migration rate. We analyzed eight SCoT primers among 15 populations of S. isoetifolium and obtained 548 polymorphic amplicons (94.81%), confirming the uniqueness of individuals of different populations. The genetic variation, such as an effective number of alleles (Ne), Shannon's information index (I), and Nei's genetic diversity (h), showed an average value of 1.44, 0.481, and 0.304, respectively of the total population. Total genetic diversity (Ht) and population diversity (Hs) were estimated to be 0.311 and 0.301. Relative genetic differentiation was high (GST = 0.318), revealed high gene flow (Nm = 1.07) among the fifteen populations. Analysis of molecular variance (AMOVA) showed significant genetic differentiation between all populations indicated a total of 61% within populations and 39% among population variation by the marker used (P < .01). The relative migration between S. isoetifolium population was 0.357, and the Gst among the populations ranging from 0.145 to 0.867. The present results show a moderate migration rate between populations and significantly correlate with genetic differentiation, which suggests that the ocean currents predominantly play a major role between geographic distance. The effectiveness of employing SCoT markers in S. isoetifolium would be useful for further studies in population genetics and the conservation genetics of seagrasses.

Genetic Relationships and Reproductive Traits of Romanian Populations of Silver Fir (Abies alba): Implications for the Sustainable Management of Local Populations

Assessment of the diversity of reproductive traits and genetic variation is of great relevance to the conservation of genetic resources and management of silver fir (Abies alba) populations. We have evaluated reproductive characteristics associated with female cones and seed morphology, as well as seed germination after subjecting seeds to five storage methods, in nine Romanian populations of A. alba. The genetic diversity of the populations was assessed with 12 polymorphic simple sequence repeat (SSR) markers. We detected significant differences between populations for all reproductive traits and considerable differences in seed germination and storage methods; seed storage in wet sand was the method resulting in the highest germination in all populations. Genomic SSRs (gSSRs) were more informative on average than expressed sequence tag SSRs (EST-SSRs) in the populations studied. The nine populations were genetically diverse, with an average number of alleles (N) per SSR locus between 3.50 and 4.83. The observed heterozygosity (Ho) in the nine populations was always lower than the expected heterozygosity (He), which resulted in values of the inbreeding coefficient (Fis) between 0.261 and 0.709. Genetic distances between populations ranged between 0.077 and 0.410. The cluster analysis based on genetic distances did not group accessions according to their geographical proximity, and despite a positive trend, the correlation between geographic and genetic distances was non-significant. The results of an analysis of molecular variance (AMOVA) revealed that only 9.1% of the total molecular variance is attributable to differences between populations. This low degree of genetic differentiation between populations is confirmed by the intermingling of individuals of different populations in a principal coordinate analysis (PCoA). We found evidence of a positive relationship between He and germination, as well as a negative one between Fis and germination, suggesting that populations with low diversity and high consanguinity may have a reduced fitness and long-term viability. The results are relevant for the conservation and management of local genetic resources and populations, as well as for reforestation programmes of silver fir.

Cross-species transferability of Solanum spp. DNA markers and their application in assessing genetic variation in silverleaf nightshade (Solanum elaeagnifolium) populations from Texas, USA

AbstractSilverleaf nightshade (Solanum elaeagnifolium Cav.) is an invasive species that has successfully spread outside its native range to become a noxious weed in 21 states in the United States and 42 countries worldwide. The successful establishment of S. elaeagnifolium outside its native habitat indicates its innate ability to adapt to a multitude of environments. Phenotypic plasticity and/or genetic adaptation have been identified as key mechanisms underlying the adaptive success of invasive species. Whereas phenotypic plasticity allows a species to buffer changes in the environment by altering its phenotypic attributes within the short term, genetic adaptation is responsible for the longer-term adaptability of plants to heterogeneous environments and is dependent on the amount of genetic variation present in the species. In this study, we screened DNA markers that are specific to tomato (Solanum lycopersicum L.) and Solanum lycopersicoides Dunal for their interspecific transferability to S. elaeagnifolium and determined the applicability of the transferable DNA markers in assessing the extent of genetic variation in populations from Lubbock, Littlefield, and Blackwell, TX. Of the 187 markers screened, 78 successfully amplified targets in S. elaeagnifolium, indicating the evolutionary conservation of marker loci across S. lycopersicum, S. lycopersicoides, and S. elaeagnifolium, despite their genetic divergence millions of years ago. Genotyping of S. elaeagnifolium populations using 50 DNA markers that consistently amplified clear bands in more than 60% of the plants identified nine polymorphic markers with 0.014 to 0.621 polymorphism information content. Genetic diversity analysis by DNA marker profiling established genetic variation among populations and within individuals of different populations. Unweighted paired group method with arithmetic mean analysis grouped the plants into six clusters that are generally defined by selection pressures unique to each collection site. Results of the study indicate the capacity of S. elaeagnifolium for genetic differentiation in response to variable selection pressures within the same geographic region.

Changes in Obesity and Physical Activity According to Gender in South Korean Adults, 2002-2013: Change of physical activity and Obesity

Background and objectivePhysical activity (PA) is essential for preventing obesity and cardiovascular risks, but the percentage of obese individuals in different populations is gradually increasing, while PA is decreasing with economic development. This study analyzed the changing trends in obesity and PA participant rates during a 10-year period in Korea. Men and women were examined separately.Material and methodsThe census population data from the database of Korean National Health Insurance Service (KNHIS) used in this study comprised information on more than 86.4 million individuals between 2002 and 2013. PA participation was classified as follows: low PA (0–2 days/week), middle PA (3–4 days/week), and high PA (5–7 days/week). Obesity was measured by calculating body mass index (BMI) using the parameters of height and weight of an individual, and was classified as normal (BMI less than 24.9), overweight (BMI 25.0–29.9), and obese (BMI 30.0 or higher). Men and women were separately analyzed.ResultsThe percentage of obese men increased from 2.6 to 4.2%, and the percentage of obese women increased from 2.9 to 3.7% during the study period. For men, their Low PA decreased from 80.7 to 78.4%, and High PA increased from 7.9 to 8.2% (p<0.001). The women’s middle PA increased from 6.6 to 11.3%, and their high PA decreased from 8.1 to 7.5% (p<0.001). Among obese individuals, men’s High PA decreased from 7.7 to 7.1%, and women’s High PA decreased from 8.5 to 6.8% (p<0.001). ConclusionObesity increased by 1.6% in men and by 0.8% in women over a decade. Low PA participation decreased, whereas middle PA increased in both men and women; thus, the overall PA participation rate increased. High PA increased in the normal weight BMI group, but it decreased in the obese group.

Variation of Growth Dynamics and Resource Allocation Patterns of Dictamnus albus

Dictamnus albus is a medicinally important plant distributed throughout South and central Europe, temperate Asia, and Himalayas. The present study was devised for the 1st time to understand the variation in growth characteristics and changes in allocation patterns in relation to altitude and habitats of Kashmir Himalaya. The present investigation revealed extensive variability in morphological parameters both within and across the individuals of different populations. Our findings clearly displayed significant divergence among sites which reveal a definite impact of altitude and habitat on morphological and reproductive features of the species under study. Our results are very useful to introduce the species into cultivation and developing strategies for conservation

Prevalence of low back pain in the elderly population: a systematic review

The aim of this study was to estimate the prevalence of low-back pain (LBP) and to identify the level of functional disability in elderly individuals in different populations. From January 1985 to October 2018, a search was performed using the following databases: Embase, LILACS, SciELO, Scopus, Medline, and the Web of Science. The descriptors were low-back pain, back pain, lower-back pain, prevalence, and elderly in Portuguese and English. Two independent reviewers conducted a search for studies and evaluated their methodological quality. The search strategy returned 2186 titles, and 35 were included in this review. The studies evaluated 135,059 elderly individuals aged between 60 and 102 years, and the prevalence of LBP ranged from 21% to 75%. The levels of functional disability, as well as functional difficulties, activities of daily living, and physical capacity, were identified in 60% of the studies. This review indicated a high prevalence of LBP in elderly individuals and functional disability that affects factors important for independence. However, the studies used different methodologies, suggesting that more studies be conducted with scientific accuracy, methodological quality, and low risk of bias to contribute to the proposal of preventive actions for elderly populations.

Transcriptomic population markers for human population discrimination

BackgroundNumerous studies have demonstrated significant differences in the expression level across continental human populations. Most of published results were performed on B-cell lines materials examined under specific laboratory conditions, without further validation in a primary biological material. The goal of our study was to identify mRNA markers characterized by a significant and stable difference in the gene expression profile in Caucasian and Chinese populations, both in the commercially available B-lymphocyte cell lines and in the primary samples of the peripheral blood.ResultsThe preliminary selection of population-differentiating transcripts was based on Illumina expression microarray analysis of the representative group of ethnically-specified B-lymphocyte cell lines. Twenty genes with the inter-population difference in the mean expression characterized by the at least 1.5-fold change and FDR < 0.05 were identified. Subsequently, a two-step validation procedure was carried out. In the first step, a subset of selected population- differentiating transcripts was tested in the independent set of B-lymphocyte cell lines, using TLDA cards. Based on TLDA analysis, three transcripts representing Fch > 2 were chosen for validation. The differentiating status was confirmed for all of them: UTS2, UGT2B17 and SLC7A7. The mean expression of UTS2 was higher in CHB (25.8-fold change compared to CEU), while the expression of UGT2B17 and SLC7A7 was higher in CEU (3.2- and 2.2-fold change, respectively).In the next validation step, two transcripts were verified in the primary biological material. As an ultimate result of our study, two mRNA markers (UTS2 and UGT2B17) exhibiting population differences in the expression level in both B-cell line and in the blood were identified. Further statistical analysis confirmed the discriminatory potential of these two markers.ConclusionsAn inter-population differences on the level of gene expression were identified in both B-cell lines and peripheral blood samples. These findings may have a practical application in the field of forensic science. In particular, these transcripts, targeted by specific probes, may be used as population-specific targets in the efforts aiming to separate mixture of blood from individuals of different populations. Notwithstanding, these results have to be confirmed on extended population group.

Association of P2X7 gene common polymorphisms with pulmonary tuberculosis in Lur population of Iran

BackgroundDifferent genetic and environmental factors are associated with susceptibility to pulmonary tuberculosis (TB) in different individuals of different populations. Based on previous studies role of P2X7 gene common polymorphisms in susceptibility to pulmonary TB was associated with ethnicities. AimWe intend to perform this study on genetic reservoir (gene pool) of Lur population of western Iran. MethodsFor the present case-control study, 100 unrelated pulmonary TB patients and 100 unrelated controls were enrolled through convenient sampling. TB confirmation was through smear and culture of sputum. Polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) was used for molecular assay. This study has been approved in the ethic committee of Lorestan University of Medical Sciences with registration number LUMS.REC.1396.253. ResultsAmong the genotypes of polymorphism 1513A/C, AA genotype was associated with susceptibility to pulmonary TB (P = .0001; OR = 4.750) whereas AC genotype was a protecting factor (P = .0001; OR = 0.192). Higher genetic reservoir of A allele was associated with more susceptibility to pulmonary TB (P = .0001; OR = 2.879) whereas C allele was a protecting factor (P = .0001; OR = 0.347). No significant result was found for −762T/C polymorphism. ConclusionIn Lur population of Iran, 1513A/C polymorphism of P2X7 is associated with susceptibility to pulmonary TB. It is suggested that bio-information banks should be established and developed in countries.