Annals of Human Biology最新文献

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and subsequent COVID-19 has spread world-wide and become pandemic with about 7 million deaths reported so far. Interethnic variability of the disease has been described, but a significant part of the differences remain unexplained and may be attributable to genetic factors.

Aim: To analyse genetic factors potentially influencing COVID-19 susceptibility and severity in European Roma minority.

Subjects and methods: Two genetic determinants, within OAS-1 (2-prime,5-prime-oligoadenylate synthetase 1, a key protein in the defence against viral infection; it activates RNases that degrade viral RNAs; rs4767027 has been analysed) and LZTFL1 (leucine zipper transcription factor-like 1, expressed in the lung respiratory epithelium; rs35044562 has been analysed) genes were screened in a population-sample of Czech Roma (N = 302) and majority population (N = 2,559).

Results: For both polymorphisms, Roma subjects were more likely carriers of at least one risky allele for both rs4767027-C (p < 0.001) and rs35044562-G (p < 0.00001) polymorphism. There were only 5.3% Roma subjects without at least one risky allele in comparison with 10.1% in the majority population (p < 0.01).

Conclusions: It is possible that different genetic background plays an important role in increased prevalence of COVID-19 in the Roma minority.

Background: Given the rapidly increasing interest in national futures programmes, and the associated significant increased resource investment, there is a pressing need for data specific to futures programmes to inform practice across world football.

Aim: To investigate the differences in the physical and perceptual demands of match-play using Global Positioning Software technology and Rating of Perceived Exertion (RPE) in traditional youth international team and age-matched international future teams for biologically late-maturing players over one in-season period.

Subjects and methods: A total of 18 U15 future team (FT) players and 21 national team (NT) players were examined.

Results: The results showed that FT players performed 9% greater total distances (p = 0.008, Cohen's d 1.29) and accumulated 20% greater total player loads (p < 0.001, Cohen's d 1.88) than NT players during matches. In contrast, NT players covered 113% greater sprinting distances (p = 0.033, Cohen's d 0.63) and performed 62% more high-intensity accelerations (p = 0.015, Cohen's d 0.90) than FT players. There were no differences in high-intensity and very high-intensity running distances, number of accelerations, number of decelerations or high-intensity decelerations, or match-play RPE. When accounting for biological maturation, the adjusted marginal means were not different between FT and NT players in any physical metric except for total player load (p = 0.046) and high-intensity accelerations (p < 0.030).

Conclusion: We conclude that while several physical performance metrics differ significantly between FT and NT match-play, the most robust differences after controlling for maturation are in sprint performance and high-intensity accelerations.

Background: The face has been widely investigated using professionally taken frontal and lateral photographs, however, there is a lack of studies of non-professional facial photographs. It is not known if they could be suitable for facial analysis. The analysis of non-professional photographs could allow the performance of cost- effective longitudinal studies.

Aim: To determine if non-professional photographs could be used for a reliable analysis of facial features.

Subjects and methods: The frontal profiles of 18-21-year-olds (35 males, 39 females) were measured by direct anthropometry, in addition, professional photographs were taken and non-professional photographs were obtained. Anthropometric landmarks were superimposed on those photographs. The indices calculated on the basis of the measurements of direct anthropometry and both types of photographs were compared.

Results: The comparison of the measurements of direct anthropometry and professional photographs showed no difference between 14 out of 25 male and 10 out of 25 female facial indices (p > 0.05) after comparing the results of direct anthropometry with those of non-professional photographs, no difference was found in 8 out of 25 male and 7 out of 25 female indices. These indices were mostly composed of vertical parameters and eye measurements.

Conclusion: Vertical facial dimensions and eye measurements may not only be used interchangeably for both facial photographs and direct anthropometry, but may also be suitable for objective and reliable facial analyses.

Background: Mitophagy and ferroptosis occur in intracerebral haemorrhage (ICH) but our understanding of mitophagy and ferroptosis-related genes remains incomplete.

Aim: This study aims to identify shared ICH genes for both processes.

Methods: ICH differentially expressed mitophagy and ferroptosis-related genes (DEMFRGs) were sourced from the GEO database and literature. Enrichment analysis elucidated functions. Hub genes were selected via STRING, MCODE, and MCC algorithms in Cytoscape. miRNAs targeting hubs were predicted using miRWalk 3.0, forming a miRNA-hub gene network. Immune microenvironment variances were assessed with MCP and TIMER. Potential small molecules for ICH were forecasted via CMap database.

Results: 64 DEMFRGs and ten hub genes potentially involved in various processes like ferroptosis, TNF signalling pathway, MAPK signalling pathway, and NF-kappa B signalling pathway were discovered. Several miRNAs were identified as shared targets of hub genes. The ICH group showed increased infiltration of monocytic lineage and myeloid dendritic cells compared to the Healthy group. Ten potential small molecule drugs (e.g. Zebularine, TWS-119, CG-930) were predicted via CMap.

Conclusion: Several shared genes between mitophagy and ferroptosis potentially drive ICH progression via TNF, MAPK, and NF-kappa B pathways. These results offer valuable insights for further exploring the connection between mitophagy, ferroptosis, and ICH.

Background: Biological maturity and relative age player selection biases are well documented in youth sports. However, there has been limited examination of the relationship between these biases.

Aim: This study investigated the presence, strength, and independence of relative age and biological maturity selection biases in Gaelic football.

Subjects and methods: A total of 247 male players from U14 to U16, from two talent academies were assessed for relative age (decimal age (DA)) and biological maturity (discrepancy between biological and chronological age (BA-CA)).

Results: Relative age effects (RAE) were observed in the U14 (DA = 0.62, d = 0.40) and U15 squads (DA = 0.57. d = 0.26) only. A bias towards advanced maturity status was present at U14 (BA-CA = 0.60, d = 0.83), U15 (BA-CA = 0.78, d = 0.89), and U16 (BA-CA, d = 1.01). There was a trivial (U14, r(83) = -0.210; U15, r(88) = 0.060) and low (U16, r(76) = 0.352) correlation between relative age and maturity status.

Conclusion: Substantial maturity selection biases and, to a lesser degree, relative age biases are evident in youth Gaelic football. Critically, these biases are independent constructs. Coaches and policy makers should be educated on the distinct influences of relative age and maturation, and on strategies to address these biases.

Background: Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them.

Aim: To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia.

Subjects and methods: Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included. Data were obtained from: (1) haematological analyses; (2) biochemical tests: dHPLC was used to determine haemoglobin (Hb); and (3) DNA sequencing data through five SNPs.

Results: 101 samples were identified by rs334 through Sanger's Sequencing, structural haemoglobinopathies HbAS (34.65%), HbSS (2.97%) and HbAC (1.98%) were found. When contrasting the Hb identification results between SNP rs334 Vs. dHPLC/Isoelectric Focusing (IEF), a coincidence was found in 39/43 samples analysed, therefore, when comparing these techniques, a significant correlation was found (Pearson's correlation coefficient r = 0.998). 26 samples previously analysed by rs334 were classified into classical haplotypes CAR (50.0%), BEN (30.76%), CAM (7.69%), SEN (3.84%), and ATP-I (7.69%).

Conclusions: SCD characterisation and SNPs-based classification through Sanger's DNA sequencing have not been performed before in Colombia. The results of this work will make it possible to expand the data or records of carriers and those affected, which will benefit patients and their families.

Background: Research has shown that cultural activities may bring about improved health. However, large-scale quantitative analyses on cultural engagement and biomarkers are lacking to date. As a result, the mechanisms through which cultural activities may be associated with health are unclear.

Aim: Test quantitative associations between cultural engagement pattern (including active and passive engagement in arts, sports, and heritage activities) and indicators of biological dysregulation in a large dataset.

Subjects and methods: Understanding Society data were used to conduct cross-sectional linear regression analyses between a data-driven latent class model of cultural engagement and indicators of anthropometric, cardiovascular, metabolic, immune, and neuroendocrine function. Analyses were adjusted for age, gender, ethnicity, childcare responsibility, urbanicity, leisure time satisfaction, capacity-related factors, socioeconomic position, social and economic capital indicators, physical activity, and medication use.

Results: More culturally participants had better indicators of biological health, such as lower waist circumference and fibrinogen blood concentration. Specific associations between cultural engagement pattern and the different biological outcomes were also observed. The associations were explained in part by correlated factors (accounting for around half of the association).

Conclusions: Cultural engagement is cross-sectionally associated with biomarkers, although the characteristics of people who engage with culture are an important consideration when interpreting these findings.

Background: Alzheimer's disease (AD) is an irreversible neurodegenerative disorder with no fully curative treatment.

Aim: This study aims to identify effective biomarkers for AD diagnosis and treatment by combining multi-omics and Mendelian randomisation (MR) analyses.

Subjects and methods: Positron emission tomography (PET), single nucleotide polymorphism (SNP), and gene expression data of AD patients using advanced correlation analysis methods (AdaSMCCA, rAdaSMCCA, and unAdaSMCCA algorithms) are integrated.

Results: Several regions of interest, risk SNP sites, and risk genes associated with AD are identified. Expression quantitative trait loci (eQTL) for the top 100 risk genes are retrieved from public datasets. A two-sample MR analysis using genome-wide association study (GWAS) data reveals two genes (FAM117A and ACSL1) causally related to AD. Additionally, single-cell transcriptome (scRNA-seq) data from AD samples are analysed to identify high-scoring cell clusters and their interactions.

Conclusions: The identified multi-omics biomarkers and genes causally related to AD could inform clinical diagnosis and treatment.