Genetic Factors Research Articles

Chinese expert consensus on the systemic treatment of advanced clear cell renal cell carcinoma (2024 edition)

Renal cell carcinoma (RCC) accounts for approximately 2% to 3% of malignant tumors in adults, with a male-to-female ratio of approximately 1.5∶1 worldwide. It can occur in all age groups, with a peak incidence in the 60-70 age range, and the median age is approximately 64 years. The current causes of kidney cancer are still unclear, but smoking, obesity, hypertension, and some genetic factors are considered risk factors for kidney cancer development. Conducive to the gradual popularization of physical examination and screening, more and more patients with kidney cancer are being detected and treated in the early stages. However, nearly 30% of patients still have locally advanced or metastatic kidney cancer at the time of initial diagnosis. Traditional chemotherapy drugs are generally ineffective for advanced RCC, and currently, advanced RCC is mainly treated with anti-vascular and immunotherapy. At present, first-line treatment is mostly stratified based on clinical characteristics such as International mRCC Database Consortium (IMDC) prognosis risk, and there are multiple options available, including anti vascular therapy, anti-vascular combined immunotherapy, and dual immunotherapy. Subsequently, first-line treatment often selects drugs based on the composition, effectiveness, and safety of first-line treatment plans. In recent years, research has found that the molecular typing and metastasis characteristics of RCC also affect the prognosis of patients, leading to many controversies in the treatment of advanced RCC. This consensus is guided by the controversial clinical issues in the management of advanced RCC. After discussion and voting by multidisciplinary clinical experts, a consensus of 10 clinical issues has been reached. At the same time, experts recommend domestic clinical and research institutions to lead or participate in more large-scale clinical trials, providing more basis for clinical decision-making and the selection of the best beneficiaries.

Exploring the role of affective temperaments: predicting major depressive disorder in the context of borderline personality disorder

ABSTRACT Purpose Major depressive disorder (MDD) is a complex condition believed to arise from a multifaceted interplay of genetic, environmental, and biological factors. In the pursuit of understanding its etiology, two elements that warrant investigation are borderline personality disorder (BPD) and affective temperaments. We aim to gain deeper insights into the mechanisms underlying this debilitating mental health condition. Method The dataset comprises individuals who sought assistance from psychiatry outpatient clinics for diverse reasons during the period spanning from 2018 to 2022. These individuals underwent SCID-II assessments to diagnose borderline personality disorder (BPD) and also completed the TEMPS-A temperament tests. Results The mean years of schooling was lower in the MDD group (p = 0.014). Two groups are compared in terms of affective temperament. Depressive (p < 0.0001), cyclothymic (p < 0.0001), anxious (p = 0.001), and irritable (p < 0.0001) temperament scores were statistically higher in the MDD group. Apart from the scale scores, the prevalence of affective temperament was evaluated and the same temperaments (depressive (p < 0.0001), cyclothymic (p < 0.0001), anxious (p = 0.001), and irritable (p < 0.0001)) were found to be significantly higher in the MDD group. Diagnosis of BPD is higher in the MDD group (p = 0.002). Binary logistic regression analysis revealed that the presence of cyclothymic temperament and marital status may be predictor factors for the development of MDD (p < 0.0001, CI: 0.001–0.121 and p = 0.002, CI: 1.550–7.172, respectively). Conclusion Notably, higher scores in cyclothymic temperament and experiencing loneliness have been identified as significantly associated with MDD. Interestingly, in patients with comorbid BPD-MDD, the presence of cyclothymic temperament appears to be a more critical factor than personality traits. This finding underscores the potential role of cyclothymic temperament in contributing to the co-occurrence of BPD and MDD.

Abstract C054: Current anticancer drugs differentially impact Black and White prostate cancer cell lines

Abstract Introduction/Background: In pre-clinical models of prostate cancer (PCa) such as the utilization of cell lines, it is important to address the limited diversity present. This acknowledgment is vital to facilitate equitable assessment of the efficacy and safety of drug development across various races and ethnicities. Of all commercially available PCa cell lines, 98% of them are of European origin. The genetic and biological disparities between PCa cell lines derived from men of European ancestry (MEA) and men of African ancestry (MAA) may underlie the observed enhanced responsiveness of tumours to existing anticancer agents in MEA compared to MAA. This difference is notable given that MAA are 2.5 times more likely to succumb to PCa. This study compared the cytotoxic effects of five anticancer drugs (Docetaxel, Cabazitaxel, Abiraterone, Olaparib, Enzalutamide) and the natural product betaine on MAA (ACRJ-PC28, MDA-PCA-2b) and MEA (DU-145, PC-3) PCa cell lines. Method: After a 72-hour treatment with the anti-cancer drugs and the natural product, the inhibitory effects of these anti-cancer agents on the four cell lines were investigated using three different assays. CellTiter Aqueous, Neutral Red, and Crystal Violet assays were utilized due to distinct growth patterns observed in the various cell lines. By comparing the optical density (OD) readings and examining the cellular morphology through microscopic visualization, we aimed to determine which assay(s) yielded the most reliable results in determining accurate IC50 values. Results: Drug selectivity was observed for Abiraterone and Olaparib that were most effective in ACRJ-PC28 (IC50 = 1.10 μM) and PC-3 (IC50 = 0.28 μM) cells compared to the other PCa cell lines. Enzalutamide differentially impacted MAA, (IC50= 206 μM for ACRJ-PC28 and 104 μM for MDA-PCA-2b) and MEA (IC50 = 37 μM for PC-3 and 48 μM for DU-145) PCa cell lines. However, no distinct impact was observed for Docetaxel (IC50s = 0.05 nM for ACRJ-PC28; 0.08 nM for MDA-PCA-2b, 0.07 nM for PC-3 and 0.08 nM for DU-145) and Cabazitaxel ((IC50s = 0.56 nM for ACRJ-PC28; 0.45 nM for MDA-PCA-2b, 0.43 nM for PC-3 and 0.38 nM for DU-145) as both drugs impacted the cell lines very potently in the nM range. Conclusion: Due to the heterogenous nature of cancers, especially in PCa, a single drug or drug class may not be the best course of treatment. Instead, a combination of drugs with different mechanisms may be more suitable for addressing the diversity in cancer types. This points to the evolving understanding of personalized cancer treatment, where a strategic integration of first, second, and third-line therapies can effectively address the genetic and epigenetic factors that are unique to individuals in cancer management. Citation Format: Simone Badal, Bor-Jang Hwang, Ashlianne Nelson, Kristoff Frank, Rory Thompson, Belinda Morison, Valerie Marah, Camille Ragin. Current anticancer drugs differentially impact Black and White prostate cancer cell lines [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C054.

Abstract C001: Global disparities in prostate cancer burden: An analysis of the GLOBOCAN 2020 database

Abstract Background: Prostate cancer (PCr) is one of the most common cancers among men globally, with considerable variations in incidence and death rates between racial/ethnic groups and geographical regions. With more than 1.4 million new cases reported in 2020, the global burden of PCr is predicted to double over the next two decades, to 2.9 million new cases and approximately 700,000 fatalities. Understanding the disparities in PCr is crucial for designing targeted treatments, and interventions and addressing health inequities. This study seeks to provide a comprehensive analysis of the recent global trends in PCr, focusing on incidence, mortality, and disparities in disease burden. Methods:This study analyzed age-standardized PCr incidence and mortality rates from the GLOBOCAN 2020 database for 174 countries, categorized by region and income level. Descriptive statistics and regression analyses were used to investigate the relationships between PCr rates and socioeconomic factors like the Human Development Index (HDI) and healthcare expenditure (HE). The study evaluated PCr distribution across age and geography, with statistical significance set at p &amp;lt; 0.05. Results:PCr incidence rates were highest in developed regions like Northern America (73.8/100,000), Western Europe (69.1/100,000), and Australia/New Zealand (88.2/100,000), and lowest in Eastern Asia (10.5/100,000) and Northern Africa (9.7/100,000). Mortality patterns were similar, with highest rates in the Caribbean (29.3/100,000) and Sub-Saharan Africa (26.6/100,000), and lowest in Eastern Asia (4.1/100,000) and Northern Africa (8.3/100,000). While incidence correlated positively with the HDI (p&amp;lt;0.001), mortality showed no significant association after adjusting for HE. Conclusion:This global analysis revealed major disparities in PCr incidence and mortality rates. Incidence was higher in developed regions, while mortality was elevated in economically disadvantaged areas. Further research is needed to understand the complex genetic, environmental, and socioeconomic factors driving these disparities. Key Takeaways: There is a continued need for targeted interventions to reduce the global burden of PCr and address disparities in disease burden. Citation Format: Olumide Arigbede, Sarah G. Buxbaum, Sara Falzarano, Suhn K. Rhie. Global disparities in prostate cancer burden: An analysis of the GLOBOCAN 2020 database [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C001

SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy

BACKGROUND A significant subset of individuals with epilepsy fails to respond to currently available antiepileptic drugs, resulting in heightened mortality rates, psychosocial challenges, and a diminished quality of life. Genetic factors, particularly within the SCN1A gene, and the pro-inflammatory cytokine response is important in intricating the drug resistance in idiopathic epilepsy cases. In this extended study, we determined the correlation of rs6732655A/T single nucleotide polymorphism to understand the causative association of SCN1A gene with epilepsy drug resistance and inflammatory response. AIM To find the correlation of SCN1A gene rs6732655A/T polymorphism with the drug-resistant epilepsy and inflammatory response. METHODS The study enrolled 100 age and sex-matched patients of both drug-resistant and drug-responsive epilepsy cases. We analysed the rs6732655A/T polymorphism to study its association and causative role in drug-resistant epilepsy cases using restriction fragment length polymorphism technique. The diagnostic performance of interleukin (IL)-1β, IL-6, and high mobility group box 1 (HMGB1) protein levels was evaluated in conjunction with genotypic outcome receiver operating characteristic analysis. RESULTS AT and AA genotypes of rs6732655 SCN1A gene polymorphism were associated with higher risk of drug resistance epilepsy. Serum biomarkers IL-6, IL1β and HMGB1 demonstrated diagnostic potential, with cutoff values of 4.63 pg/mL, 59.52 pg/mL and 7.99 ng/mL, respectively, offering valuable tools for epilepsy management. Moreover, specific genotypes (AA and AT) were found to be linked to the elevated levels of IL-1β and IL-6 and potentially reflecting increased oxidative stress and neuro-inflammation in drug-resistant cases supporting the previous reported outcome of high inflammatory markers response in drug resistance epilepsy. CONCLUSION SCN1A genotypes AA and AT are linked to higher drug-resistant epilepsy risk. These findings underscore the potential influence of inflammation and genetics on epilepsy treatment resistance.

Pain in chronic pancreatitis: What can we do today?

The aim of this study is to illustrate the complexity of pain management in chronic pancreatitis (CP). In this context, pain represents the most common and debilitating symptom, and it deeply affects patient’s quality of life. Multiple rating scales (unidimensional, bidimensional and multidimensional) have been proposed to quantify CP pain. However, it represents the result of complex mechanisms, involving genetic, neuropathic and neurogenic factors. Considering all these aspects, the treatment should be discussed in a multidisciplinary setting and it should be approached in a stepwise manner. First, a lifestyle change is recommended and nonsteroidal anti-inflammatory drugs represent the gold standard among medical treatments for CP patients. The second step, after medical approach, is endoscopic therapy, especially for complicated CP. In case of failure, tailored surgery represents the third step and decompressive or resection procedures can be chosen. In conclusion, CP pain’s management is challenging considering all these complex aspects and the lack of international protocols.

Genetic susceptibility to acute viral bronchiolitis

Abstract Background Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may provide new insights into disease pathogenesis. Methods We conducted a genome-wide association study (GWAS) to examine the genetic contributions to bronchiolitis susceptibility in the FinnGen project data. We analyzed 1,465 infants hospitalized for bronchiolitis &amp;lt;2 years of age and 356,404 individuals without a history of acute lower respiratory infections (LRIs). Results GWAS identified associations (p&amp;lt;5×10-8) for variants in gasdermin B (GSDMB) and a missense variant in cadherin-related family member 3 (CDHR3). Children with bronchiolitis in infancy were more likely to develop asthma later in life compared to controls. The two associated loci were previously linked to asthma and susceptibility to wheezing illness by other causative agents than RSV. The identified loci associated with overall bronchiolitis, with larger effects in non-RSV than RSV-induced infection. Conclusion Our results suggest that genetic variants in CDHR3 and GSDMB modulate susceptibility to bronchiolitis, especially when caused by viruses other than RSV. Severe bronchiolitis in infancy may trigger the development of asthma in genetically susceptible individuals, or it could be a marker of genetic predisposition to asthma.

Phenome-wide association study of population-differentiating genetic variants around gene ACSL1

Abstract Background and objectives Demographic dynamics and natural selection during human evolution shaped the present-day patterns of genetic variations, and geographically varying genetic factors contribute to different disease prevalences across human populations. This study aims to evaluate the presence of positive selection on the gene encoding long-chain fatty acyl-CoA synthetase 1 (ACSL1) and the phenotypic impacts of population-differentiating genetic variants around this gene. Methodology Three types of statistical tests for positive selection, based on site frequency spectrum, extended haplotype homozygosity, and population differentiation, were applied to the whole-genome sequencing data from the 1000 Genomes Project. A phenome-wide association study of ACSL1 was performed with published genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS), including phenome-wide studies in biobanks. Results Genetic variants associated with ACSL1 expression in various tissues exhibit geographically varying allele frequencies. Three types of statistical tests consistently supported the presence of positive selection on the coding and regulatory regions of ACSL1 in African, European, South Asian, and East Asian populations. A phenome-wide association study of ACSL1 revealed associations with type 2 diabetes, blood glucose, age at menopause, mean platelet volume, and mean reticulocyte volume. The top allele associated with lower diabetes risk has the highest frequency in European populations, while the top allele associated with later menopause has the highest frequency in African populations. Conclusions and implications Positive selection on ACSL1 resulted in geographically varying genetic variants, which may contribute to differential phenotypes across human populations, including type 2 diabetes and age at menopause.

Why does perceived parenting in adolescence predict maladaptive personality in adulthood? Evidence for substantial genetic mediation.

Why is parenting in adolescence predictive of maladaptive personality in adulthood? This study sets out to investigate environmental and genetic factors underlying the association between parenting and maladaptive personality longitudinally in a large sample of twins. The present study addressed this question via a longitudinal study focused on two cohorts of twins assessed on aspects of perceived parenting (parent- and adolescent-reported) at age 14 years (n =1,094 pairs). Participants were followed to adulthood, and maladaptive personality traits were self-reported using the Personality Inventory for DSM-5 (PID-5) at age 24 or 34 years. We then modeled these data using a bivariate biometric model, decomposing parenting-maladaptive personality associations into additive genetic, shared environmental, and nonshared environmental factors. Numerous domains of adolescent-reported parenting predicted adult maladaptive personality. Further, we found evidence for substantial additive genetic (r a ranging from 0.22 to 0.55) and (to a lesser extent) nonshared environmental factors (r e ranging from 0.10 to 0.15) that accounted for the association between perceived parenting reported in adolescence and adult personality. Perceived parenting in adolescence and maladaptive personality in adulthood may be related due to some of the same genetic factors contributing to both phenotypes at different developmental periods.

Effect and interaction of PINK1 genetic polymorphisms and environmental factors on blood pressure in COEs-exposed workers

ABSTRACT Coke oven emissions (COEs) contain a variety of polycyclic aromatic hydrocarbons (PAHs), which can cause damage to the human cardiovascular system. In addition, myocardial mitochondria are susceptible to damage in hypertensive patients. However, it is not clear whether genetic variation, in single nucleotide polymorphisms (SNPs) in PINK1 affects COEs exposure-induced abnormal blood pressure. We surveyed and tested 518 workers exposed to COEs and statistically analyzed them with SPSS 21.0 software. SBP was greater in the high-exposure group than in the low-exposure group. Generalized linear model analysis showed that the interaction of PINK1 rs3738136 (GA+AA) and COEs had an effect on SBP [β(95%CI) = -6.537(−12.072, −1.002), p = 0.021] and DBP [β(95%CI) = -4.811(−8.567, −1.056), p = 0.012]. This study is the first to identify the role of PINK1 rs3738136 in COE- induced abnormal blood pressure, and to prove that the abnormal blood pressure of workers is the result of environmental and genetic factors.

Different Types of Milk Flow Curves and Factors Affecting Milkability in Buffalo Species

Buffaloes are characterized by longer teats and teat canals and stronger muscular resistance of the teat wall than cattle; it is necessary to have a high vacuum level to open the teat canal and begin milk ejection. In buffalo milking management, milk yield, and flow profiles are essential parameters to record and evaluate. The milking machine is a critical point, and the characteristics of the milking vacuum and the pulsation rate are closely related to milk flow observations. In Italy, the most used vacuum levels are 44-46 kPa (range 40-53 kPa). The data on the milkability traits of the Mediterranean Italian breed made it possible to classify eight different types of milk flow curves due to anatomical, physiological, and management differences. This study aims to evaluate the main factors influencing milkability in dairy buffaloes. The results suggest the detachment of the milking cluster to reduce the decreasing and blind phases with the following advantages: reduction of the total milking time and consequently of the worker's time, improvement of the farmer's profitability and milk quality through decreasing the incidence of mastitis. Milk ability is influenced by physiological, sanitary, management, and genetic factors. In Mediterranean Italian buffaloes milked with the Automatic Milking System (AMS), a considerable variation in milk ejection and, consequently, in the milk flow curve was found compared to the conventional one, with better pre-stimulation, independent milk ejection for each teat, optimal milking of all quarters. In conclusion, continuous milkability monitoring will help optimize milking practices by reducing labor time and increasing farmers’ income through better milk quality. In addition, the identification of buffaloes with desirable types of milk flow curves could be helpful for buffalo breeders’ associations to address farmer management and to define potential new breeding objectives.

Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways

Background The intricate molecular pathways and genetic factors that underlie the pathophysiology of cervical insufficiency (CI) remain largely unknown and understudied. Methods We sequenced exomes from 114 patients in Latvia and Lithuania, diagnosed with a short cervix, CI, or a history of CI in previous pregnancies. To probe the well-known link between CI and connective tissue dysfunction, we introduced a connective tissue dysfunction assessment questionnaire, incorporating Beighton and Brighton scores. The phenotypic data obtained from the questionnaire was correlated with the number of rare damaging variants identified in genes associated with connective tissue disorders (in silico NGS panel). SKAT, SKAT-O, and burden tests were performed to identify genes associated with CI without a priori hypotheses. Pathway enrichment analysis was conducted using both targeted and genome-wide approaches. Results No patient could be assigned monogenic connective tissue disorder neither genetically, neither clinically upon clinical geneticist evaluation. Expanding our exploration to a genome-wide perspective, pathway enrichment analysis replicated the significance of extracellular matrix-related pathways as important contributors to CI’s development. A genome-wide burden analysis unveiled a statistically significant prevalence of rare damaging variants in genes and pathways associated with steroids (p-adj = 5.37E-06). Rare damaging variants, absent in controls (internal database, n = 588), in the progesterone receptor (PGR) (six patients) and glucocorticoid receptor (NR3C1) (two patients) genes were identified within key functional domains, potentially disrupting the receptors’ affinity for DNA or ligands. Conclusion Cervical insufficiency in non-syndromic patients is not attributed to a single connective tissue gene variant in a Mendelian fashion but rather to the cumulative effect of multiple inherited gene variants highlighting the significance of the connective tissue pathway in the multifactorial nature of CI. PGR or NR3C1 variants may contribute to the pathophysiology of CI and/or preterm birth through the impaired progesterone action pathways, opening new perspectives for targeted interventions and enhanced clinical management strategies of this condition.

Non-motor symptoms of Parkinson`s disease-insights from genetics.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by both motor and non-motor symptoms (NMS). NMS including sleep disturbances, depression, anxiety, and constipation are diverse, can precede motor symptoms, and significantly impact patients` quality of life. The severity and type of NMS vary based on age, disease severity, and motor symptoms, and while some respond to dopaminergic treatments, others may be induced or exacerbated by such treatments. NMS also play a role in differentiating PD from drug-induced parkinsonism and are related to gait dysfunction in both early and advanced stages. Genetic factors play a significant role in the development of NMS in PD, with mutations in genes such as SNCA, LRRK2, PRKN, and GBA being associated with severe and early NMS.Familial studies and identification of susceptibility factors have provided insights into the genetic underpinnings of NMS in PD. Neurobehavioral changes, including cognitive decline, are common NMS in PD, and their genetic basis involves a spectrum of mutations shared with other neurodegenerative disorders. Further research is needed to elucidate the functional implications of these genetic factors and their contributions to the pathogenesis of NMS in PD.

Nature and nurture in fussy eating from toddlerhood to early adolescence: findings from the Gemini twin cohort

BackgroundFood fussiness (FF) describes the tendency to eat a small range of foods, due to pickiness and/or reluctance to try new foods. A common behaviour during childhood, and a considerable cause of caregiver concern; its causes are poorly understood. This is the first twin study of genetic and environmental contributions to the developmental trajectory of FF from toddlerhood to early adolescence, and stability and change over time.MethodsParticipants were from Gemini, a population‐based British cohort of n = 4,804 twins born in 2007. Parents reported on FF using the Child Eating Behaviour Questionnaire ‘FF’ scale when children were 16 months (n = 3,854), 3 (n = 2,666), 5 (n = 2,098), 7 (n = 703), and 13 years old (n = 970). A mixed linear model examined the trajectory of FF, and a correlated factors twin model quantified genetic and environmental contributions to variation in and covariation between trajectory parameters. A longitudinal Cholesky twin model examined genetic and environmental influences on FF at each discrete age.ResultsWe modelled a single FF trajectory for all children, which was characterised by increases from 16 months to 7 years, followed by a slight decline from 7 to 13 years. All trajectory parameters were under strong genetic influence (&gt;70%) that was largely shared, indicated by high genetic correlations. Discrete age analyses showed that genetic influence on FF increased significantly after toddlerhood (16 months: 60%, 95% CI: 53%–67%; 3 years: 83%; 81%–86%), with continuing genetic influence as indicated by significant genetic overlap across every age. Shared environmental influences were only significant during toddlerhood. Unique environmental influences explained 15%–26% of the variance over time, with some enduring influence from 5 years onwards.ConclusionsIndividual differences in FF were largely explained by genetic factors at all ages. Fussy eating also shows a significant proportion of environmental influence, especially in toddlerhood, and may, therefore, benefit from early interventions throughout childhood. Future work needs to refine the FF trajectory and explore specific trajectory classes.

Effect of the Mediterranean Diet (MeDi) on the Progression of Retinal Disease: A Narrative Review

Worldwide, the number of individuals suffering from visual impairment, as well as those affected by blindness, is about 600 million and it will further increase in the coming decades. These diseases also seriously affect the quality of life in working-age individuals. Beyond the characterization of metabolic, genetic, and environmental factors related to ocular pathologies, it is important to verify how lifestyle may participate in the induction of the molecular pathways underlying these diseases. On the other hand, scientific studies are also contributing to investigations as to whether lifestyle could intervene in modulating pathophysiological cellular responses, including the production of metabolites and neurohormonal factors, through the intake of natural compounds capable of interfering with molecular mechanisms that lead to ocular diseases. Nutraceuticals are promising in ameliorating pathophysiological complications of ocular disease such as inflammation and neurodegeneration. Moreover, it is important to characterize the nutritional patterns and/or natural compounds that may be beneficial against certain ocular diseases. The adherence to the Mediterranean diet (MeDi) is proposed as a promising intervention for the prevention and amelioration of several eye diseases. Several characteristic compounds and micronutrients of MeDi, including vitamins, carotenoids, flavonoids, and omega-3 fatty acids, are proposed as adjuvants against several ocular diseases. In this review, we focus on studies that analyze the effects of MeDi in ameliorating diabetic retinopathy, macular degeneration, and glaucoma. The analysis of knowledge in this field is requested in order to provide direction on recommendations for nutritional interventions aimed to prevent and ameliorate ocular diseases.

Nutritional Qualities, Metabolite Contents, and Antioxidant Capacities of Yardlong Beans (Vigna unguiculata subsp. sesquipedalis) of Different Pod and Seed Colors

Studying the effects of genetic and environmental factors on plant biochemical components helps in selecting the best varieties for the food industry and breeding programs. This study analyzed the nutritional qualities, secondary metabolites, and antioxidant activities of 14 field-grown yardlong beans accessions and how they are affected by differences in pod and seed colors. The analyzed parameters varied significantly among the yardlong bean accessions, with variances ranging from 1.36% in total unsaturated fatty acid content to 51.01% in DPPH• scavenging activity. Accessions YLB4, YLB7, and YLB14 performed the best, showing antioxidant indices of 100.00, 70.10, and 67.88%, respectively. Among these, YLB14 showed a characteristic property, having the highest levels of vitamin C (2.62 mg/g) and omega-6 to omega-3 ratio (2.67). It also had the second highest dietary fiber (21.45%), stearic acid (4.44%), and linoleic acid (40.39%) contents, as well as the lowest thrombogenicity index (0.38). Although cluster and principal component analyses did not clearly separate the yardlong beans based on pod or seed color, analysis of variance revealed that these factors and their interaction had significant effects on total phenol, DPPH• scavenging activity, ABTS•+ scavenging activity, and reducing power. In contrast, the nutritional parameters, except for dietary fiber, were not significantly affected by pod and seed color variations. Therefore, consuming yardlong beans of different pod and seed colors may not affect the overall nutrient intake. In general, this study identified yardlong beans with green pods and black seeds as good sources of antioxidants. Accordingly, further metabolomics and genomics studies are suggested to thoroughly explore their characteristics.

Morph-linked variation in female pheromone signalling and male response in a polymorphic moth.

Understanding the maintenance of genetic variation in reproductive strategies and polymorphisms in the wild requires a comprehensive examination of the complex interactions between genetic basis, behaviour and environmental factors. We tested the association between three colour genotypes and variation in female pheromone signalling and male antennal morphology in the wood tiger moth (Arctia plantaginis). These moths have genetically determined white (WW, Wy) and yellow (yy) hindwings that are linked to mating success and fitness, with heterozygotes (Wy) having an advantage. We hypothesized that attractiveness and reproductive success are correlated, with Wy females being more attractive than the other two genotypes which could contribute to maintaining the polymorphism. Female attractiveness was tested by baiting traps with females of the three colour genotypes both in low- (i.e. field set-up) and in high-population density (i.e. large enclosure set-up). Male's ability to reach females was correlated to their own colour genotype and antennal morphology (length, area and lamellae count). Contrary to our prediction, morph-related reproductive success and attractiveness were not correlated. Heavier Wy females attracted a lower proportion of males compared to WW and yy females. Specifically, an increase in weight corresponded to a decreased Wy but increased yy female attractiveness. yy females were generally more attractive than others likely due to earlier pheromone release. In males, lamellae count and genetic colour morph were linked to the male's ability to locate females. Furthermore, male traits affected their ability to reach females in a context-specific way. Males with denser antennae (i.e. higher lamellae count) and white males reached the females faster than yellows in the enclosure, while yellow males located females faster than whites in the field. Our results indicate that higher yy female attractiveness was likely affected by the combined effect of early pheromone release, female weight and higher population density. Males' searching success was affected by morph-specific behavioural strategies and local population density. Ultimately, the combined effect of genotype-related pheromone signalling strategies of females together with environment-dependent male behaviour affect male response and potentially contribute to maintaining variation in fitness-related traits.

Cleft lip/palate patients’ oral health status: an epidemiological study at a Brazilian pediatric hospital

Cleft lip/palate is a congenital maxillofacial malformation which results from genetic and environmental factors. In Brazil, the prevalence is 1 in every 673 live births. Several alterations result from oral clefts and affects function, aesthetics, and social life. Due to morphofunctional changes, these patients are more susceptible to disorders of the oral cavity. This study aimed to conduct an epidemiological study about alterations of the stomatognathic complex in cleft lip/palate patients at Albert Sabin Pediatric Hospital in Fortaleza, Ceará, Brazil. Files containing medical records, imaging exams and dental models of 64 patients from 2005 to 2017 were analyzed. There was a higher prevalence of males, patients from the countryside and the left unilateral transforaminal cleft subtype. 85.9% of the patients had undergone cheiloplasty and palatoplasty. About 74% of patients had dental agenesis, 71.9% developed the precanine tooth, 26.6% presented dental shape anomalies and 65.6% presented maxillary atresia. The mean DMFT index (decayed, missing, and filled teeth) of the patients was 3.51. These results corroborate and add valuable information to the available literature on cleft lip/palate patients. Our results demonstrate that cleft patients present dental and skeletal alteration that need specialized treatment.

Identification and Characterization of Key Genes Associated with Amelogenesis

Abstract Objectives The identification of key genes associated with amelogenesis would be helpful in finding solutions to genetic disorders in oral biology. The study aimed to use in silico analysis to identify the key genes involved in tooth development associated with preameloblasts (PABs) and secretory ameloblasts (SABs). Material and Methods The data was subjected to quality analysis and uniform manifold approximation and projection analysis. To examine the distribution of the genes and identify important upregulated loci, a p-value histogram, a quantile plot, a mean difference and mean-variance plot, and a volcano plot were generated. Finally, protein-protein interaction and gene enrichment analyses were performed to determine the ontology, relevant biological processes, and molecular functions of selected genes. Results A total of 157 genes were found to be significant in the PAB versus SAB comparison. HIST1H31 revealed strong interaction with HIST1H2BM, and EXO1, ASPM, SPC25, and TTK showed strong interactions with one other. The STRING database revealed that NCAPG, CENPU, NUSAP1, HIST1H2BM, and HIST1H31 are involved in biological processes. NCAPG, CENPU, SPC25, ETV5, TTK, ETV1, FAM9A, NUSAP1, HIST1H2BM, and HIST1H31 are involved in cellular components. Conclusion The TTK, NUSAP1, CENPU, NCAPG, FAM9A, ASPM, SPC25, and HIST1H31 genes demonstrate functions in cell division. These genes might play a role in ameloblast development. These results will be useful in developing new methods to stimulate ameloblast development, which is essential for tooth regeneration and tissue engineering. However, more research is required to validate the functions of these genes and the genes with which they interact. A wide variety of genetic, epigenetic, and exogenous signaling factors regulate these genes and pathways throughout development and differentiation, cell fate, and behavior.

Performance and Stability for Grain Yield and Its Components of Some Rice Cultivars under Various Environments

Refine current agricultural practices considering environmental changes are crucial for finding tolerant rice varieties that can meet the demands of human consumption. To this end, stability analysis assesses a crop genotype’s ability to adapt to various conditions. Therefore, the objective of this study was to (1) examine the interaction between rice genotypes and environmental conditions; (2) evaluate the stability of twelve rice genotypes using various stability methods; (3) identify representative environments for multi-environment testing; and (4) determine superior genotypes for specific environments. The evaluated rice cultivars were Sakha 101, Sakha 104, Sakha 105, Sakha 106, Sakha 107, Sakha 108, Giza 177, Giza 178, Giza 179, Giza 182, Egyptian Yasmine, and Sakha super 300. The experiment followed a strip-plot design, with three replications. The findings revealed significant differences among the rice varieties across various environments for the majority of the assessed characteristics. The joint regression analysis of variance demonstrated highly significant differences among rice cultivars for all the studied traits in terms of genotype-by-environment interaction (G × E). The statistical significance of the interaction between genetic and environmental factors was evident for all variables demonstrating heritable variation among the rice cultivars, specifically Sakha 108, Sakha 104, Giza 177, and Giza 178, concerning grain yield per feddan. These rice cultivars exhibited stability parameters that were not significantly different from unity for the regression coefficient (bi) and from zero for the deviations from regression (S2di) for those traits. Overall, stability criteria are essential for ensuring reliable rice production, meeting human consumption, advancing genetic improvement, and promoting environmental sustainability in agriculture.