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Summary: Fruit development can be generally classified into a set of biologically sequential stages including fruit initiation, growth, and ripening. Cucumber, a globally important vegetable crop, displays two important features during fruit development: parthenocarpy at fruit initiation and prematurity at harvest for consumption. Therefore, fruit growth plays essential role for cucumber yield and quality formation, and has become the research hot spot in cucumber fruit development. Here, we describe recent advances in molecular mechanisms underlying fruit growth in cucumber, include key players and regulatory networks controlling fruit length variation, fruit neck elongation, and locule development. We also provide insights into future directions for scientific research and breeding strategies in cucumber. [ABSTRACT FROM AUTHOR]

Background: Alterations in EEG activity have been considered valid endophenotypes of substance use disorders (SUDs). Empirical evidence has supported the association between genetic factors (e.g., genes, single nucleotide polymorphisms [SNPs]) and SUDs, considering both clinical samples and individuals with a positive family history of SUDs [F+SUD]). Nevertheless, the relationship between genetic factors and intermediate phenotypes (i.e., altered EEG activity) among individuals with SUD phenotypes remains unclear. Objective(s): The current study aims at summarizing genetic factors linked to aberrant EEG activity among individuals with SUDs and those with F+SUD. Methods: Sixteen studies (5 [N = 986] + 11 from the Collaborative Studies On Genetics of Alcoholism [COGA] sample [432 ≤ N ≤ 8810]) were included for a qualitative systematic review. Thirteen studies (5 + 8 studies from the COGA sample) were used for multi-level meta-analytic procedures. Results: Qualitative analyses highlighted a multivariate genetic architecture linked to alterations in EEG waves among individuals with SUD phenotypes (i.e., augmented resting-state beta waves; reduced resting-state alpha waves; reduced resting-state and task-dependent theta waves). The most recurrent genetic factors were involved in cellular energy homeostasis, modulation of inhibitory and excitatory neural activity together with neural cell growth. Meta-analytic results showed a moderate association between genetic factors and altered resting-state and task-dependent EEG activity. Meta-analytic results also suggested non-additive genetic effects on altered EEG activity. Conclusions: Complex genetic interactions mediating neural activity and brain development might constitute a causal pathway toward intermediate phenotypes associated with phenotypic features, which in turn are linked to SUDs. [ABSTRACT FROM AUTHOR]

OBJECTIVES: To investigate the genetic determinants affecting the rate of change in CSF total tau (t-tau). METHODS: This study conducted a genome-wide association study (GWAS) on longitudinal CSF t-tau and genotype data from 319 non-Hispanic Caucasians within the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. The aim was to identify genetic determinants influencing the rate of change in CSF t-tau, a key biomarker in AD. RESULTS: The GWAS identified a significant single nucleotide polymorphism (SNP), rs17149074, within the C9orf171 (CFAP77) gene region that showed significant association with changes in CSF t-tau over time. Additionally, five other SNPs--rs10916844, rs10916846, rs9425869, rs3744474, and rs8078303--were found to potentially influence CSF t-tau variability. CONCLUSIONS: These findings not only enhance our understanding of t-tau's progression in AD but also suggest that these identified SNPs could serve as novel genetic biomarkers, potentially providing novel insights in the prognostic landscape of AD by refining the predictive value of CSF-tau measurements [ABSTRACT FROM AUTHOR]

Introduction: Remission rates for ulcerative colitis (UC) remain low despite significant progress in disease understanding and the introduction of novel therapeutic agents. Several challenges contribute to this, including the heterogeneity of the disease, suboptimal efficacy of current diagnostic and therapeutic tools, drug safety concerns, and limited access to newer treatment options. Areas covered: This review evaluates current treatment targets in UC, assessing the effectiveness of various therapies and management strategies in achieving remission. We explore the potential role of personalized medicine, which tailors treatment based on clinical predictors, genetic factors, and immunologic profiles. Personalized approaches show promise in improving remission rates by addressing the unique characteristics of each patient. We also discussed the feasibility of adapting such management models and suggested solutions to some of the challenges in their implementation. Expert opinion: Future efforts should prioritize the continued development of biologics, small molecules, and digital health solutions, alongside noninvasive monitoring techniques. These innovations could not only enhance patient outcomes by improving remission rates but also reduce healthcare costs by minimizing hospitalization and surgical interventions. Ultimately, a personalized, stratified approach to UC management is key to optimizing patient care and addressing the unmet needs in this field. [ABSTRACT FROM AUTHOR]

Migraine is a multidimensional disease affecting a large portion of the human population presenting with a variety of symptoms. In the era of personalized medicine, successful migraine treatment presents a challenge, as several studies have shown the impact of a patient's genetic profile on therapy response. However, with the emergence of contemporary treatment options, there is promise for improved outcomes. A literature search was conducted in PubMed and Scopus, in order to obtain studies investigating the impact of genetic factors on migraine therapy outcome. Overall, 23 studies were included in the current review, exhibiting diversity in the treatments used and the genetic variants investigated. Divergent genes were assessed for each category of migraine treatment. Several genetic factors were identified to contribute to the heterogeneous response to treatment. SNPs related to pharmacodynamic receptors, pharmacogenetics and migraine susceptibility loci were the most investigated variants, revealing some interesting significant results. To date, various associations have been recorded correlating the impact of genetic factors on migraine treatment responses. More extensive research needs to take place with the aim of shedding light on the labyrinthine effects of genetic variations on migraine treatment, and, consequently, these findings can promptly affect migraine treatment and improve migraine patients' life quality in the vision of precise medicine. [ABSTRACT FROM AUTHOR]

Objective: To optimize the algorithm for early diagnosis of urolithiasis (UL) in children, considering risk factors, clinical and functional characteristics of the disease, and immunogenetic predisposition in an outpatient setting Methods: The literature on managing children with UL outside the hospital was thoroughly analyzed to achieve the goal. Medical records, risk factors, including immunogenetic predisposition, and clinical and laboratory investigation results of 652 hospitalized children with UL were studied. Additionally, a retrospective study of 379 outpatient records (the control group) and a prospective study of 1275 children (the study group) aged 1 to 18 was conducted. Based on the outpatient records analysis, the effectiveness of current and optimized management algorithms for children with UL was compared Results: As a result of the research, an algorithm for early diagnosis and prediction of UL in children, considering risk factors, including immunogenetic predisposition, was developed. The algorithm evaluates the risk of developing UL based on a thirteen-point checklist that assesses benefits and risks to provide a personalized risk score for each child. Based on this risk score, additional therapeutic interventions are determined for each patient Conclusion: The algorithm developed for early diagnosis and prediction of UL in children helps identify the condition at a preclinical stage in an outpatient setting. This algorithm categorizes patients into low-, moderate-, or high-risk groups and guides their management accordingly

Abstract In thrombotic diseases, coagulation, anticoagulation, and fibrinolysis are three key physiological processes that interact to maintain blood in an appropriate state within blood vessels. When these processes become imbalanced, such as excessive coagulation or reduced anticoagulant function, it can lead to the formation of blood clots. Genetic factors play a significant role in the onset of thrombotic diseases and exhibit regional and ethnic variations. The decision of whether to initiate prophylactic anticoagulant therapy is a matter that clinicians must carefully consider, leading to the development of various thrombotic risk assessment scales in clinical practice. Given the considerable heterogeneity in clinical diagnosis and treatment, researchers are exploring the application of artificial intelligence in medicine, including disease prediction, diagnosis, treatment, prevention, and patient management. This paper reviews the research progress on various genetic factors involved in thrombotic diseases, analyzes the advantages and disadvantages of commonly used thrombotic risk assessment scales and the characteristics of ideal scoring scales, and explores the application of artificial intelligence in the medical field, along with its future prospects.

Immunoglobulin A nephropathy (IgAN) is the most prevalent primary glomerular disease worldwide and it remains a leading cause of kidney failure. Clinical manifestations of IgA are exacerbated by infections, and emerging data suggest that aberrant mucosal immune responses are important contributors to the immunopathogenesis of this disease. However, the exact stimuli, location and mechanism of nephritis-inducing IgA production remains unclear. In this focused review we explore recent developments in our understanding of the contribution of the mucosal immune system and mucosal-derived IgA-producing cells to the development of IgAN. [ABSTRACT FROM AUTHOR]

Celiac disease is an immune-mediated enteropathy with typical symptoms of weight loss, abdominal bloating, diarrhea, vomiting, or constipation. Many shreds of evidence show that CeD is hereditary in origin and various biochemical pathways have been connected to its etiology. Numerous genes from different physiological pathways have been investigated in the last few decades, however a comprehensive analysis is required to address the gaps and provide a more integrated understanding of how these genetic factors contribute to the pathogenesis of disease. Present study attempts to summarize the historical and up-to-date findings to understand the role of genetics in Celiac disease. The literature was searched from sources such as PubMed and Google Scholar to analyze studies conducted on celiac disease from the years 1995 to 2024. Term maps were created to examine the frequency of studies related to various terms to understand the major focus of the studies till date. The study also concise the different genetic polymorphisms studied in a table to understand the role of genetics in celiac diseases. Early studies on celiac disease primarily focused on its pathophysiology, prevalence, and general aspects, with limited attention to genetics. However, recent studies have increasingly emphasized the genetic basis of the disease and highlighting the involvement of various pathways like inflammation, T-cell differentiation and activation, epithelial barrier function, stress and apoptosis pathways. However, present study indicate that most current research predominantly focus on cytokines, specifically the TNF alpha gene. Consequently, there is a need for additional research to gain a more comprehensive understanding of the genetics of celiac disease. [ABSTRACT FROM AUTHOR]

Dairy products, a major source of calcium, demonstrate a number of beneficial effects, not only protecting against the development of osteoporosis (OP) but also suppressing the onset of type-2 diabetes (T2DM) and improving bone mineral density (BMD). Dairy consumption is closely linked to lactose tolerance. One of the genetic factors predisposing individuals to lactose intolerance is rs4988235 polymorphism of the MCM6 gene. The aim of this reported study was to analyse the relationship between the rs4988235 variant of the MCM6 gene and bone mineral density and the risk of type-2 diabetes in women after menopause. Methods: The study was conducted among 607 female patients in the postmenopausal period in whom bone densitometry and vitamin-D3 levels were assayed and genotyping of the rs4988235 polymorphism of MCM6 gene was performed. The obtained results were analysed for the presence of T2DM, obesity surrogates, medical data, and past medical history. Results: The distribution of genotype frequencies was consistent with the Hardy–Weinberg equilibrium (p > 0.050). Postmenopausal women with the GG homozygote of rs4988235 polymorphism consumed significantly less calcium (dairy), which was probably related to the observed lactose intolerance. The GG homozygote of women with rs4988235 polymorphism was significantly more likely to have T2DM relative to the A allele carriers (p = 0.023). GG homozygotes had significantly lower femoral–vertebral mineral density despite the significantly more frequent supplementation with calcium preparations (p = 0.010), vitamin D (p = 0.01), and anti-osteoporotic drugs (p = 0.040). The obtained results indicate a stronger loss of femoral-neck mineral density with age in the GG homozygotes relative to the A allele carriers (p = 0.038). Conclusions: In the population of women after menopause, the carriage of the G allele of rs4988235 polymorphism of the MCM6 gene, i.e., among the patients with lactose intolerance, significantly increased the risk of developing T2DM and the loss of BMD. [ABSTRACT FROM AUTHOR]

The study explores the intricate biochemical mechanisms driving aging and their inferences for prolonged existence and to identify implicit remedial targets for interventions that promote healthier aging. A comprehensive literature investigation was conducted across different databases and search machines to identify material exploration papers, reviews, and studies concentrated on critical biochemical mechanisms driving aging. Data abstraction and synthesis were performed to organize findings into thematic sections, each devoted to a specific biochemical mechanism. The connection of these mechanisms and their relative influence on aging were investigated, and consequences for age-associated conditions and implicit strategies to enhance health span and lifetime were explored. The review highlights the pivotal function of cellular anility, genomic integrity, mitochondrial function, inflammation, genetics, epigenetic regulation, and nutrient seeing in shaping the aging process. Transcriptional processes, including RNA polymerase II extension speed and chromatin structure, are also intertwined in aging. Sirtuins, NAD, and circadian timepieces regulate lifetime and health span, while exercise and nutrition play pivotal functions in maintaining cellular health. Drugs targeting aging pathways and biomarkers for assessing aging processes show capacity. This study provides a comprehensive understanding of the molecular mechanisms underpinning aging and lifetime regulation, stressing the significance of interdisciplinary exploration in addressing the complex challenges of aging. The known biochemical mechanisms offer implicit remedial targets for interventions promoting healthier aging and extended life. Evolving trends and impending directions in longevity research are bandied, and limitations and challenges in deciphering exploration issues into practical interventions are addressed. [ABSTRACT FROM AUTHOR]

The development of antibiotic resistance in Staphylococcus aureus, particularly in methicillin-resistant S. aureus (MRSA), has become a significant health concern worldwide. The acquired mecA gene encodes penicillin-binding protein 2a (PBP2a), which takes over the activities of endogenous PBPs and, due to its low affinity for β-lactam antibiotics, is the main determinant of MRSA. In addition to PBP2a, other genetic factors that regulate cell wall synthesis, cell signaling pathways, and metabolism are required to develop high-level β-lactam resistance in MRSA. Although several genetic factors that modulate β-lactam resistance have been identified, it remains unclear how they alter PBP2a expression and affect antibiotic resistance. This review describes the molecular determinants of β-lactam resistance in MRSA, with a focus on recent developments in our understanding of the role of mecA-encoded PBP2a and on other genetic factors that modulate the level of β-lactam resistance. Understanding the molecular determinants of β-lactam resistance can aid in developing novel strategies to combat MRSA. [ABSTRACT FROM AUTHOR]

In thrombotic diseases, coagulation, anticoagulation, and fibrinolysis are three key physiological processes that interact to maintain blood in an appropriate state within blood vessels. When these processes become imbalanced, such as excessive coagulation or reduced anticoagulant function, it can lead to the formation of blood clots. Genetic factors play a significant role in the onset of thrombotic diseases and exhibit regional and ethnic variations. The decision of whether to initiate prophylactic anticoagulant therapy is a matter that clinicians must carefully consider, leading to the development of various thrombotic risk assessment scales in clinical practice. Given the considerable heterogeneity in clinical diagnosis and treatment, researchers are exploring the application of artificial intelligence in medicine, including disease prediction, diagnosis, treatment, prevention, and patient management. This paper reviews the research progress on various genetic factors involved in thrombotic diseases, analyzes the advantages and disadvantages of commonly used thrombotic risk assessment scales and the characteristics of ideal scoring scales, and explores the application of artificial intelligence in the medical field, along with its future prospects. [ABSTRACT FROM AUTHOR]

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD. [ABSTRACT FROM AUTHOR]

Introduction: The impact of the COVID-19 pandemic on head and neck cancer (HNC) has been suggested, but the causal relationship remains unclear. Methods: We explore this connection by utilizing the Mendelian randomization (MR) approach applied to publicly available genome-wide association study (GWAS) summary datasets for COVID-19 and HNC. The datasets included critical COVID-19 (13,769 cases, 1,072,442 controls), hospitalized COVID-19 (32,519 cases, 2,062,805 controls), SARS-CoV-2 infection (122,616 cases, 2,475,240 controls), and HNC (2,131 cases, 287,137 controls). Mechanistic underpinnings of the causal relationships identified by MR analysis were explored through functional annotation augmented by AI-based literature data mining. Results: Surprisingly, a genetic predisposition to contracting a milder form of COVID-19 substantially reduced the risks of developing HNC (OR: 0.52, 95% CI: 0.35-0.78, p = 1.42E-03), with no significant association between genetic liability to severe COVID-19 and the risk of HNC detected. Additionally, our findings highlighted 14 genes linked to SARS-CoV-2 infection, potentially playing a protective role in the context of HNC. These genes include OAS1, LOC107985887, BCL11A, DPP9, LOC107984685, LINC02326, MUC4, NXPE3, IFNAR2, LZTFL1, LOC105372437, NAPSA, LOC105376622, LOC107986082, and SLC6A20. Conclusion: Our study emphasizes the protective role of the genetic liability to milder COVID-19 in reducing the risk of HNC while refuting a causal relationship between severe COVID-19 and HNC. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to develop a combined predictive model for early pubertal development (EPD) in girls based on both non-genetic and genetic factors. Methods: The case-control study encompassed 147 girls diagnosed with EPD and 256 girls who exhibited normal pubertal development. The non-genetic risk score (NGRS) was calculated based on 6 independent biochemical predictors screened by multivariate logistic regressions, and the genetic risk score (GRS) was constructed using 28 EPD related single-nucleotide polymorphisms (SNPs). Area under receiver operator characteristic curve (AROC), net reclassification optimization index (NRI) and integration differentiation index (IDI) were used to evaluate the improvement of adding genetic variants to the non-genetic risk model. Results: Overweight (OR=2.74), longer electronic screen time (OR=1.79) and higher ratio of plastic bottled water (OR=1.01) were potential risk factors, and longer exercise time (OR=0.51) and longer day sleeping time (OR=0.97) were protective factors for EPD, and the AROC of NGRS model was 83.6% (79.3-87.9%). The GRS showed a significant association with EPD (OR=1.90), and the AROC of GRS model was 65.3% (59.7-70.8%). After adding GRS to the NGRS model, the AROC significantly increased to 85.7% (81.7-89.6%) (P=0.020), and the reclassification significantly improved, with NRI of 8.19% (P= 0.023) and IDI of 4.22% (P <0.001). Conclusions: We established a combined prediction model of EPD in girls. Adding genetic variants to the non-genetic risk model brought modest improvement. However, the non-genetic factors such as overweight and living habits have higher predictive utility. [ABSTRACT FROM AUTHOR]

Background: The choice of superior herd sires is essential for genetic improvement in dairy cattle, with sperm quality serving as a key factor. Bull semen’s superior qualities are essential for accelerating genetic improvement through AI. These characteristics are affected by several factors, including the environment, management techniques, physiological condition and hereditary factors. This study involved in evaluating genetic and non-genetic factors influencing seminal attributes. Methods: Data on 1,85,413 ejaculates from nine genetic groups viz. Jersey, Holstein Friesian, crossbred Jersey, crossbred Holstein Friesian, Bargur, Kangayam, Pulikulam, Umblachery and Red Sindhi were collected from four frozen semen stations of Tamil Nadu State. Semen production data viz. ejaculate volume (mL), spermatozoa concentration (million per mL), initial motility (percentage), post-thaw motility (percentage), total initial motile spermatozoa and total post-thaw motile spermatozoa were also examined for various genetic and non-genetic factors affecting them using linear mixed model with repeated measures. Result: The overall estimated marginal means for Volume of ejaculate, Concentration of spermatozoa, Initial motility, Total initial motile spermatozoa per ejaculate, Total doses per ejaculate, Post-thaw motility and Total post-thaw motile spermatozoa per ejaculate were 3.11±0.11 (mL), 963±30.60 (106 /mL), 79.50±1.29 (per cent), 1847±118 (106 ), 151.00±7.20, 51.00±0.42 (per cent) and 1535±80.20 (106 ) respectively. The effect of all genetic and non-genetic factors (farms, ejaculates, period, seasons, age) were observed to be significantly influencing the seminal traits considered in the study. However, the estimated marginal means of each trait displayed varied ranges of mean against non-genetic factors. [ABSTRACT FROM AUTHOR]

Mithun (Bos frontalis), a domestically raised herbivore, holds significant economic importance for the farming community of Northeast India. This study aimed to elucidate the genetic parameters governing Mithun body weight traits across different ages using data from the sole organized semi-intensive Mithun farm in India. Information was gathered from 110 Mithuns born over a period spanning from 2011 to 2022. Body weight taken at week 1 (W1), 1-month (M1), 3-months (M3), 6-months (M6), 9-months (M9), 12-months (M12), 30-months (M30) and 45-months (M45) were considered for the study. The genetic parameters estimation employed the BLUPF90 suite of programs, incorporating univariate Gibbs sampler animal model with fixed effects; season and period of birth, and sex of the animal. Variance and covariance components, including direct additive genetic effects, were estimated. Heritability estimates for the eight body weight traits ranged from 0.47 ± 0.0050 to 0.50 ± 0.0043, indicating varying genetic influence across growth stages. Results revealed that Mithun herd has a substantial genetic variability for growth traits and therefore there is ample scope to select for a better growth rate. Here, we conclude that Month 12 (M12) and Month 9 (M9) body weights exhibit higher heritability, indicating potential for genetic improvement through selective breeding. [ABSTRACT FROM AUTHOR]

Diabetic nephropathy, as a severe microvascular complication of diabetes, manifests in four clinical types: classic, albuminuria regression, a rapid decline in kidney function (RDKF), and non-proteinuric or non-albuminuric DKD. Rapidly progressive diabetic nephropathy advances to end-stage renal disease more swiftly than the typical form, posing significant risks. However, a comprehensive understanding of rapidly progressive diabetic nephropathy is currently lacking. This article reviewed latest developments in genetic and clinical risk factors associated with rapidly progressive diabetic nephropathy, aiming to broad perspectives concerning the diagnosis and interventions of this condition.

Amr Molla,1 Abdulfatah M Alayoubi,2 Raed Jannadi3 1Department of Medicine, College of Medicine, Taibah University, Madinah, Saudi Arabia; 2Department of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia; 3Department of Family & Community Medicine &, Medical Education, College of Medicine, Taibah University, Madinah, Saudi ArabiaCorrespondence: Amr Molla, Universities Road, P.O. Box: 344, Taibah, Madinah, 42353, Saudi Arabia, Tel +966504342992, Email amolla@taibahu.edu.saBackground: Vitiligo, a condition characterized by depigmented skin, has been observed to have a higher incidence in patients with a family history of the disease. This study investigates the relationship between parental consanguinity, family medical history, and the onset of childhood vitiligo, hypothesizing that genetic factors play a significant role.Methods: A cross-sectional study was conducted involving 382 people diagnosed with vitiligo in Saudi Arabia. The study assessed the prevalence of parental consanguinity and its correlation with the disease’s onset, employing statistical analysis to evaluate the data collected through medical records and family history questionnaires.Results: The findings reveal a significant association between parental consanguinity, particularly among first cousins, and the incidence of childhood-onset vitiligo. Additionally, a notable correlation was found between family medical history and the onset of the condition, with familial vitiligo being more prevalent in patients with adult-onset vitiligo.Conclusion: This study underscores the critical role of genetic predispositions in the development of childhood-onset vitiligo, highlighting the influence of parental consanguinity. The results advocate for increased awareness and screening in populations with high rates of consanguinity to facilitate early detection and management of vitiligo. Future research should focus on exploring the genetic mechanisms underlying this association to develop targeted interventions.Keywords: parental consanguinity, childhood-onset vitiligo, genetic factors, familial vitiligo, Saudi Arabia, cross-sectional study

The coronavirus disease-2019 (COVID-19) has been declared a global pandemic by the World Health Organization due to its spread to more than 90% of nations of the world with significant consequences on their health, social structure, and economy. The causative agent, severe acute respiratory syndrome coronavirus 2, is a highly contagious virus of the coronaviridae family that is known to survive on many surfaces for days at various temperatures. It is acid stable at a high titer (1.2 × 103 PFU) for up to an hour and inactivated when exposed to temperatures 33°C and above for up to 30 min. Chemical agents such as ethanol, diethyl ether, chlorine, per-acetic acid, and chloroform likewise inactivate it as well as exposure to ultraviolet (UV) rays at 254 nm. Emerging evidence indicate that while modes of transmission of the disease are the same across the globe, incidence rates, clinical manifestation, severity, and outcome of COVID-19 in tropical Africa differ from other continent. Patients in Africa have presented with less severe symptoms, higher rates of recovery, and lower case-fatality rates. There are suggestions that higher environmental temperature and humidity in African countries, immune status, dietary pattern, and sociocultural practices of the people may have contributed to this. This review of literature sought to investigate the probable influence of these factors on the impact of COVID-19 in Africa with recommendations to mitigate its spread and impact on morbidity and mortality.

Age-related macular degeneration (AMD) is a chronic disease, which often develops in older people, but this is not the rule. AMD pathogenesis changes include the anatomical and functional complex. As a result of damage, it occurs, in the retina and macula, among other areas. These changes may lead to partial or total loss of vision. This disease can occur in two clinical forms, i.e., dry (progression is slowly and gradually) and exudative (wet, progression is acute and severe), which usually started as dry form. A coexistence of both forms is possible. AMD etiology is not fully understood. Extensive genetic studies have shown that this disease is multifactorial and that genetic determinants, along with environmental and metabolic-functional factors, are important risk factors. This article reviews the impact of heavy metals, macro- and microelements, and genetic factors on the development of AMD. We present the current state of knowledge about the influence of environmental factors and genetic determinants on the progression of AMD in the confrontation with our own research conducted on the Polish population from Kuyavian-Pomeranian and Lubusz Regions. Our research is concentrated on showing how polluted environments of large agglomerations affects the development of AMD. In addition to confirming heavy metal accumulation, the growth of risk of acute phase factors and polymorphism in the genetic material in AMD development, it will also help in the detection of new markers of this disease. This will lead to a better understanding of the etiology of AMD and will help to establish prevention and early treatment. [ABSTRACT FROM AUTHOR]

Background: Dual-systems models, positing an interaction between two distinct and competing systems (i.e. top-down self-control, and bottom-up reward- or emotion-based drive), provide a parsimonious framework for investigating the interplay between cortical and subcortical brain regions relevant to impulsive personality traits (IPTs) and their associations with psychopathology. Despite recent developments in multivariate analysis of genome-wide association studies (GWAS), molecular genetic investigations of these models have not been conducted. Methods: Using IPT GWAS, we conducted confirmatory genomic structural equation models (GenomicSEM) to empirically evaluate dual-systems models of the genetic architecture of IPTs. Genetic correlations between dual-systems factors and relevant cortical and subcortical neuroimaging phenotypes (regional/structural volume, cortical surface area, cortical thickness) were estimated and compared. Results: GenomicSEM dual-systems models underscored important sources of shared and unique genetic variance between top-down and bottom-up constructs. Specifically, a dual-systems genomic model consisting of sensation seeking and lack of self-control factors demonstrated distinct but related sources of genetic influences (rg = 0.60). Genetic correlation analyses provided evidence of differential associations between dual-systems factors and cortical neuroimaging phenotypes (e.g. lack of self-control negatively associated with cortical thickness, sensation seeking positively associated with cortical surface area). No significant associations were observed with subcortical phenotypes. Conclusions: Dual-systems models of the genetic architecture of IPTs tested were consistent with study hypotheses, but associations with relevant neuroimaging phenotypes were mixed (e.g. no associations with subcortical volumes). Findings demonstrate the utility of dual-systems models for studying IPT genetic influences, but also highlight potential limitations as a framework for interpreting IPTs as endophenotypes for psychopathology. [ABSTRACT FROM AUTHOR]

Environments shape people, and at the same time, people are attracted to environments that fit their characteristics because fit facilitates the achievement of people's desired life outcomes, such as relationship satisfaction, work success, and well-being. In this article, we outline how persons and environments can fit, the relevance of fit and misfit for different life outcomes, and the benefits and pitfalls of different (mis)fit measures. We propose three directions for future research: (a) the use of both subjective and objective (mis)fit measures; (b) the consideration of complex dynamics between person and environment characteristics via pathways through multiple biological, experiential, behavioral, and social layers across the life span; and (c) the integration of insights from different disciplines, including psychology, sociology, neuroscience, and genetics, to move the field forward. [ABSTRACT FROM AUTHOR]

Type 2 diabetes mellitus (T2DM) is a socially significant disease with increasing prevalence worldwide. It is characterized by heterogeneous metabolic disorders and is associated with various risk factors, including BMI, abnormal lipid levels, hypertension, smoking, dietary preferences, physical inactivity, sedentary lifestyle, family history of diabetes, prediabetes or gestational diabetes, inflammation, intrauterine environment, age, sex, ethnicity, and socioeconomic status. Assessing the genetic risk of developing T2DM in specific populations remains relevant. The ADIPOQ gene, encoding adiponectin, is directly related to the risk of developing T2DM, obesity, and cardiovascular diseases. Our study demonstrated significant associations of ADIPOQ gene polymorphisms with the risk of developing T2DM and obesity, as well as with fasting glucose levels and BMI, in the Kazakh population. Specifically, rs266729 was significantly associated with T2DM and obesity in the Kazakh population, while other studied polymorphisms (rs1501299, rs2241766, and rs17846866) did not show a significant association. These findings suggest that ADIPOQ gene polymorphisms may influence T2DM risk factors and highlight the importance of genetic factors in T2DM development. However, further research in larger cohorts is needed to confirm these associations. [ABSTRACT FROM AUTHOR]

Background: Variants in fat mass and the obesity-associated protein (FTO) gene have long been recognized as the most significant genetic predictors of body fat mass and obesity. Nevertheless, despite the overall evidence, there are conflicting reports regarding the correlation between different polymorphisms of the FTO gene and body mass index (BMI). Additionally, it is unclear whether FTO influences metabolic syndrome (MetS) through mechanisms other than BMI's impact. In this work, we aimed to analyze the impact of the following FTO polymorphisms on the BMI as well as MetS components in a population of young adult men. Methods: The patient group consisted of 279 Polish young adult men aged 28.92 (4.28) recruited for the MAGNETIC trial. The single-nucleotide polymorphisms (SNPs), located in the first intron of the FTO gene, were genotyped, and the results were used to identify "protective" and "risk" haplotypes and diplotypes based on the literature data. Laboratory, as well as anthropometric measurements regarding MetS, were performed. Measured MetS components included those used in the definition in accordance with the current guidelines. Data regarding dietary patterns were also collected, and principal components of the dietary patterns were identified. Results: No statistically significant correlations were identified between the analyzed FTO diplotypes and BMI (p = 0.53) or other MetS components (waist circumference p = 0.55; triglycerides p = 0.72; HDL cholesterol p = 0.33; blood glucose p = 0.20; systolic blood pressure p = 0.06; diastolic blood pressure p = 0.21). Stratification by the level of physical activity or adherence to the dietary patterns also did not result in any statistically significant result. Conclusions: Some studies have shown that FTO SNPs such as rs1421085, rs1121980, rs8050136, rs9939609, and rs9930506 have an impact on the BMI or other MetS components; nevertheless, this was not replicated in this study of Polish young adult males. [ABSTRACT FROM AUTHOR]

Alzheimer's disease (AD) is a neurodegenerative condition that displays a high prevalence in Lebanon causing a local burden in healthcare and socio-economic sectors. Unfortunately, the lack of prevalence studies and clinical trials in Lebanon minimizes the improvement of AD patient health status. In this review, we include over 155 articles to cover the different aspects of AD ranging from mechanisms to possible treatment and management tools. We highlight some important modifiable and non-modifiable risk factors of the disease including genetics, age, cardiovascular diseases, smoking, etc. Finally, we propose a hypothetical genetic synergy model between APOE4 and TREM2 genes which constitutes a potential early diagnostic tool that helps in reducing the risk of AD based on preventative measures decades before cognitive decline. The studies on AD in Lebanon and the Middle East are scarce. This review points out the importance of genetic mapping in the understanding of disease pathology which is crucial for the emergence of novel diagnostic tools. Hence, we establish a rigid basis for further research to identify the most influential genetic and environmental risk factors for the purpose of using more specific diagnostic tools and possibly adopting a local management protocol. [ABSTRACT FROM AUTHOR]

Gestational diabetes mellitus (GDM) poses a significant global health concern, impacting both maternal and fetal well-being. Early detection and treatment are imperative to mitigate adverse outcomes during pregnancy. This review delves into the pivotal role of insulin function and the influence of genetic variants, including SLC30A8, CDKAL1, TCF7L2, IRS1, and GCK, in GDM development. These genetic variations affect beta-cell function and insulin activity in crucial tissues, such as muscle, disrupting glucose regulation during pregnancy. We propose a hypothesis that this variation may disrupt zinc transport, consequently impairing insulin production and secretion, thereby contributing to GDM onset. Furthermore, we discussed the involvement of inflammatory pathways, such as TNF-alpha and IL-6, in predisposing individuals to GDM. Genetic modulation of these pathways may exacerbate glucose metabolism dysregulation observed in GDM patients. We also discussed how GDM affects cardiovascular disease (CVD) through a direct correlation between pregnancy and cardiometabolic function, increasing atherosclerosis, decreased vascular function, dyslipidemia, and hypertension in women with GDM history. However, further research is imperative to unravel the intricate interplay between inflammatory pathways, genetics, and GDM. This understanding is pivotal for devising targeted gene therapies and pharmacological interventions to rectify genetic variations in SLC30A8, CDKAL1, TCF7L2, IRS1, GCK, and other pertinent genes. Ultimately, this review offers insights into the pathophysiological mechanisms of GDM, providing a foundation for developing strategies to mitigate its impact. [ABSTRACT FROM AUTHOR]

Breast cancer remains a significant contributor to morbidity and mortality within oncology. Risk factors, encompassing genetic and environmental influences, significantly contribute to its prevalence. While germline mutations, notably within the BRCA genes, are commonly associated with heightened breast cancer risk, a spectrum of other variants exists among affected individuals. Diagnosis relies on imaging techniques, biopsies, biomarkers, and genetic testing, facilitating personalised risk assessment through specific scoring systems. Breast cancer screening programs employing mammography and other imaging modalities play a crucial role in early detection and management, leading to improved outcomes for affected individuals. Regular screening enables the identification of suspicious lesions or abnormalities at earlier stages, facilitating timely intervention and potentially reducing mortality rates associated with breast cancer. Genetic mutations guide screening protocols, prophylactic interventions, treatment modalities, and patient prognosis. Prophylactic measures encompass a range of interventions, including chemoprevention, hormonal inhibition, oophorectomy, and mastectomy. Despite their efficacy in mitigating breast cancer incidence, these interventions carry potential side effects and psychological implications, necessitating comprehensive counselling tailored to individual cases. [ABSTRACT FROM AUTHOR]

Purpose of Review: In this narrative review, we aim to summarize recent insights into the complex interplay between environmental and genetic factors affecting the etiology, development, and progression of chronic migraine (CM). Recent Findings: Environmental factors such as stress, sleep dysfunction, fasting, hormonal changes, weather patterns, dietary compounds, and sensory stimuli are critical triggers that can contribute to the evolution of episodic migraine into CM. These triggers are particularly influential in genetically predisposed individuals. Concurrently, genome-wide association studies (GWAS) have revealed over 100 genetic loci linked to migraine, emphasizing a significant genetic basis for migraine susceptibility. Summary: In CM, environmental and genetic factors are of equal importance and contribute to the pathophysiology of the condition. Understanding the bidirectional interactions between these elements is crucial for advancing therapeutic approaches and preventive strategies. This balanced perspective encourages continued research into the complex gene-environment nexus to improve our understanding and management of CM. [ABSTRACT FROM AUTHOR]

Childhood obesity represents a pressing global public health concern due to its widespread prevalence and its close connection to early-life exposure to risk factors. The onset of obesity is contingent upon the interplay of genetic composition, lifestyle choices, and environmental as well as nutritional elements encountered during both fetal development and early childhood. This paper critically examines research discoveries in this area and concisely outlines the influence of breastfeeding on genetic predispositions associated with childhood obesity. Studies have demonstrated that breastfeeding has the potential to reduce childhood obesity by impacting anthropometric indicators. Moreover, the duration of breastfeeding is directly correlated with the degree to which it alters the risk of childhood obesity. Current explorations into the link between genetic factors transmitted through breast milk and childhood obesity predominantly focus on genes like FTO, Leptin, RXRα, PPAR-γ, and others. Numerous research endeavors have suggested that an extended period of exclusive breastfeeding is tied to a diminished likelihood of childhood obesity, particularly if sustained during the initial six months. The duration of breastfeeding also correlates with gene methylation, which could serve as the epigenetic mechanism underpinning breastfeeding's preventative influence against obesity. In summary, the thorough evaluation presented in this review underscores the intricate nature of the association between breastfeeding, genetic factors, and childhood obesity, providing valuable insights for future research efforts and policy formulation.

Ovarian carcinoma includes a wide variety of entities and appropriate subclassification is one of the chief goals in diagnostic gynecologic pathology. Over the years, several new entities have been added to the list of ovarian carcinomas. Moreover, recent advances in the pathogenesis of newer and “older” types of ovarian carcinoma have allowed for the development of ancillary studies that are important in both the subclassification and prognostication. The surgical pathologist must assimilate these new discoveries in ovarian carcinoma in addition to refining their morphology-based diagnostic skillset. The purpose of this review article is to provide an overview of specific genetic factors, clinical disease states, and microscopic queues that are important in the subclassification of ovarian carcinoma.

Chronic obstructive pulmonary disease (COPD) is a lung disease which is the third most common cause of premature death globally. Inhaling dangerous gases, cigarette smoking, and exposure to pollution are the main factors contributing to the development of COPD. These factors may harm lung tissue and create COPD causes. Increased synthesis of inflammatory mediators and proteases because of cigarette smoking exposure to transcriptional factors. Dysfunction of mitochondria essential part to lead and development of several human illnesses, such as chronic obstructive pulmonary disease. Alpha-1 antitrypsin deficiency boosts neutrophil elastase activity, which promotes tissue deterioration and emphysema (particularly in smokers because cigarette smoke also boosts protease activity). In this review, we discussed all these factors and summarized the conventional drug currently present for the treatment of COPD. In addition, we also focused on various natural compounds categorized under the flavonoids, polyphenols, alkaloids, glycosides and marine compounds which were reported for the effective treatment of COPD.

Abstract Background Contralateral breast cancer (CBC) is the most common second primary cancer diagnosed in breast cancer survivors, yet the understanding of the genetic susceptibility of CBC, particularly with respect to common variants, remains incomplete. This study aimed to investigate the genetic basis of CBC to better understand this malignancy. Findings We performed a genome-wide association analysis in the Women’s Environmental Cancer and Radiation Epidemiology (WECARE) Study of women with first breast cancer diagnosed at age

Neuropathic pain is a severe and chronic condition widely found in the general population. The reason for this is the extensive variety of damage or diseases that can spark this unpleasant constant feeling in patients. During the processing of pain, the dorsal root ganglia constitute an important region where dorsal root ganglion neurons play a crucial role in the transmission and propagation of sensory electrical stimulation. Furthermore, the dorsal root ganglia have recently exhibited a regenerative capacity that should not be neglected in the understanding of the development and resolution of neuropathic pain and in the elucidation of innovative therapies. Here, we will review the complex interplay between cells (satellite glial cells and inflammatory cells) and factors (cytokines, neurotrophic factors and genetic factors) that takes place within the dorsal root ganglia and accounts for the generation of the aberrant excitation of primary sensory neurons occurring in neuropathic pain. More importantly, we will summarize an updated view of the current pharmacologic and nonpharmacologic therapies targeting the dorsal root ganglia for the treatment of neuropathic pain.

Thoracic aortic dissection (TAD) is an important cause of sudden cardiac death and is characterized by high morbidity, mortality, and a poor prognosis. Patent ductus arteriosus (PDA) is a common congenital heart disease. The pathogenesis of both TAD and PDA has been reported to be related to genetic factors. The MYH11 gene, which encodes myosin heavy chain 11, has been reported in individuals with both TAD and PDA. Herein, we first detected a harmful MYH11 missense variant (c. T3728C, p. L1243P) in a TAD and PDA family. This missense variant co-segregated with the TAD/PDA phenotype in this family of four individuals, providing evidence of its harmfulness. Histopathological examinations revealed the presence of fragmented, broken, and lessened elastic fibers and the deposition of proteoglycans in the median of aortic dissection. Moreover, the immunofluorescence results showed that the labeled MYH11 protein in the tissue of the aortic dissection was weaker than that in the normal aorta. We present this familial case to stress the necessity of postmortem genetic testing in such cases among forensic practices. Identifying those culprit gene variants can direct effective genetic counseling and personalized health management in family members (especially first-degree relatives) with high-risk genotypes. [ABSTRACT FROM AUTHOR]

Thrombosis is a multifaceted process involving various molecular components, including the coagulation cascade, platelet activation, platelet–endothelial interaction, anticoagulant signaling pathways, inflammatory mediators, genetic factors and the involvement of various cells such as endothelial cells, platelets and leukocytes. A comprehensive understanding of the molecular signaling pathways and cell interactions that play a role in thrombosis is essential for the development of precise therapeutic strategies for the treatment and prevention of thrombotic diseases. Ongoing research in this field is constantly uncovering new molecular players and pathways that offer opportunities for more precise interventions in the clinical setting. These molecular insights into thrombosis form the basis for the development of targeted therapeutic approaches for the treatment and prevention of thrombotic disease. The aim of this review is to provide an overview of the pathogenesis of thrombosis and to explore new therapeutic options. [ABSTRACT FROM AUTHOR]

Introduction: Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods: WWE registered at West China Hospital between January 2022 and October 2022 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded, and blood samples were collected for hormones, glucose metabolism testing, and whole-genome sequencing. Results: After sample sequencing, quality control, and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS "burden score" of each individual were calculated to count the deleterious variants. A total of 95 WWE were included in this study and 19 patients were diagnosed with PCOS. WWE with PCOS showed a significantly different hormone profiles and a tendency of impaired glucose metabolism. The most commonly associated genes were ZFYVE28, COL19A1, SIK3, ANKK1, PPIG, and REPIN1. The top 3 canonical pathways are adipogenesis pathway, epoxysqualene biosynthesis signaling, and glutamate degradation signaling. The most significant common variant was rs11914038 located in gene CELSR1 and rs651748 located in gene ZBTB16. In human gene connectome prioritizations, ITGA9, PNPLA2, and DAB2 are the top 3 genes having the shortest distance to known PCOS genes. Conclusion: Genetic factors involved in the abnormal regulation of glucose and insulin metabolism are likely to be associated with the comorbidity of PCOS in WWE. Interventions targeting these processes should be given more priority in clinical practice. [ABSTRACT FROM AUTHOR]

In high-altitude environments, the oxygen and air density are decreased, and the temperature and humidity are low. When individuals enter high-altitude areas, they are prone to suffering from acute mountain sickness (AMS) because they cannot tolerate hypoxia. Headache, fatigue, dizziness, and gastrointestinal reactions are the main symptoms of AMS. When these symptoms cannot be effectively alleviated, they can progress to life-threatening high-altitude pulmonary edema or high-altitude cerebral edema. If the risk of AMS can be effectively assessed before people enter high-altitude areas, then the high-risk population can be promptly discouraged from entering the area, or drug intervention can be established in advance to prevent AMS occurrence and avoid serious outcomes. This article reviews recent studies related to the early-warning biological indicators of AMS to provide a new perspective on the prevention of AMS. [ABSTRACT FROM AUTHOR]

INTRODUCTION: The associations of the Mediterranean‐DASH Intervention for Neurodegenerative Delay (MIND) diet with brain structural changes are unclear. METHODS: Among 26,466 UK Biobank participants, a 15‐point MIND score was calculated from 24‐hour diet recalls from 2009 to 2012. We assessed its associations with 17 magnetic‐resonance‐derived brain volumetric markers and their longitudinal changes and explored whether genetic factors modify the associations. RESULTS: Higher MIND adherence was associated with larger volumes of thalamus, putamen, pallidum, hippocampus, and accumbens (beta per 3‐unit increment ranging from 0.024 to 0.033) and lower white matter hyperintensities (P‐trends < 0.05), regardless of genetic predispositions of Alzheimer's disease. MIND score was not associated with their longitudinal changes (P > 0.05) over a median of 2.2 years among participants with repeated imaging assessments (N = 2963), but was associated with slower atrophy in putamen (beta: 0.026, P‐trend = 0.044) and pallidum (beta: 0.030, P‐trend = 0.033) among APOE ε4 non‐carriers (N = 654). DISCUSSION: The MIND diet showed beneficial associations with certain brain imaging markers, and its associations with long‐term brain structural changes warrants future investigation. Highlights: Adherence to the Mediterranean‐DASH Intervention for Neurodegenerative Delay (MIND) diet was significantly associated with higher volumes and larger gray matter volumes in certain brain regions in UK adults, and the associations were not modified by genetic factors.No significant associations were observed between MIND diet and longitudinal changes in the investigated brain structural markers over a median of 2.2 years.Higher MIND score was significantly associated with slower atrophy in the putamen and pallidum among APOE ε4 non‐carriers. [ABSTRACT FROM AUTHOR]

The development of personality is an ongoing and lifelong process that commences at conception and endures throughout an individual's lifespan. Both genetic factors and environmental variables contribute to its influence. Genetic variables constitute the fundamental underpinnings of personality development, while the environment furthermore assumes a significant role. Environmental influences, such as parents, family, friends, employment, and various social groups, significantly influence an individual's developmental trajectory. Therefore, personality development is a multifaceted process influenced by the interplay of hereditary and environmental influences, with both playing a role in facilitating the construction of one's personality. The primary objective of this systematic review is to investigate the influence of genetic and environmental factors on the development of personality, encompassing both infancy and adulthood. This study addresses the abovementioned issue by analyzing the most up-to-date research findings from the past decade. This study's experimental procedures and techniques are described in the following section. This study presents a comprehensive overview of the existing literature investigating the impact of genetic and environmental factors on personality development. Fifteen scholarly research publications were chosen, focusing on individuals mostly in their youth and exploring the impact of genetic and environmental factors. The primary objective of this study is to address inquiries about the genetic impact, environmental role, and the combined contribution and interaction of these elements, as well as to elucidate the underlying causes of this connection and influence. The inclusion criteria for the papers encompassed several factors: language, relevance to the subject matter, age range of participants, publication time, journal of publication, study type, and methodological quality. In conclusion, while genetic factors and the environment play critical roles in shaping individuals, their complex interplay truly defines outcomes. Neither genes nor environment dictate destinies in isolation; their combined, intricate dance sculpts the vast diversity of human experiences. This interplay is fundamental to psychology, medicine, sociology, and even policymaking. [ABSTRACT FROM AUTHOR]

Aim: Investigate the role of host genetic variations in high-risk human papillomaviruses (HR-HPVs). Methods: This cross-sectional study recruited 238 cervical cancer patients. Variants in transport (ABCC2), xenobiotic metabolism (GSTP, GSTT1, GSTM1, NQO1), DNA repair (ERCC1, XRCC1), immune response (TLR4) and apoptosis (CASP8, FASL, p53) genes were characterized. Tumor DNA was genotyped for 14 HR-HPVs. Results:GSTP rs1695GG, XRCC1 rs1799782TT and GSTT1 del/del were associated with HPV51 (odds ratio [OR]: 3.9; 95% confidence interval [CI]: 1.3–11.7; p = 0.02) and HPV58 (OR: 2.4; 95% CI: 1.2–5.8; p = 0.048), respectively. CASP8 rs3834129del/del was associated with HPV16/18 (OR: 2.7; 95% CI: 1.2–6.0; p = 0.017) and HPV monoinfections (OR: 2.3; 95% CI: 1.2–4.4; p = 0.008). Conclusion:GSTP, GSTT1, XRCC1 and CASP8 variants were associated with HPV-positivity. With further research, a genetic-based screening tool can be developed, to use with HPV vaccines toward preventing cervical cancer. Cervical cancer is caused by human papillomavirus (HPV). Some people's genetics will increase their likelihood of getting an HPV infection, which in turn increases cervical cancer risk. There is not much research on genetics and HPV among African populations, even though Africans are not genetically the same as other populations. In this study, alterations in three genes were associated with HPV infections in women with cervical cancer from Zimbabwe. More studies are needed to confirm what is reported here and to find ways of identifying people that are more likely to develop infections with HPV. [ABSTRACT FROM AUTHOR]

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Background: Nevi is a common benign proliferation of melanin-producing cells. Many triggers can influence their transformation into either benign or malignant, thus it is important to understand these triggers and their incidence across different populations to take adequate prevention. Here, we aim to examine the different etiologies of nevi changes across the Jordanian population.Methods: We carried out a cross-sectional observational study focusing on patients seeking dermatological consultation for normal nevi or nevi with minimal changes. Demographic and clinical variables were collected from the patient's case history. Nevi's characteristics were also recorded. A skilled dermatologist assessed nevi morphology and changes using the ABCDE criteria for potential signs of melanoma. Nevi biopsy samples were fixed in formalin and sent for histopathological analysis and were stained with hematoxylin and eosin (H&E).Results: A total of 231 patients were enrolled, with a majority of females (85%) and a median age of 37. Past medical history was positive in 17% of the samples, with hypertension, endocrine diseases, and diabetes mellitus being the most common. The majority of patients (61%) had fewer than three nevi. Changes in nevus size, configuration, and color were reported in 10% of patients, with multiple changes observed in 36% of patients. Microscopic analysis revealed polypoidal intradermal melanocytic blue nevi as the most common histopathological finding (84%). Positive medical history and the number of nevi were significantly associated with nevi changes.Conclusion: Our results report that the number of nevi, as well as medical history, is linked to changes in their appearance. Additionally, we provide a detailed account of the various types of observed changes and their occurrence rates. [ABSTRACT FROM AUTHOR]