Search Results (256)

Malaria persists as a paradigmatic model of co-evolutionary complexity, emerging from the dynamic interplay among a human host, Anopheles vectors, and Plasmodium falciparum parasites. In human populations, centuries of selective pressures have sculpted an intricate and heterogeneous immunogenetic landscape. Classical adaptations, such as hemoglobinopathies, are complemented by a diverse array of genetic polymorphisms that modulate innate and adaptive immune responses. These genetic traits, along with the acquisition of functional immunity following repeated exposures, mitigate disease severity but are continually challenged by the parasite’s highly evolved mechanisms of antigenic variation and immunomodulation. Such host adaptations underscore an evolutionary arms race that perpetually shapes the clinical and epidemiological outcomes. Intermediaries in malaria transmission have evolved robust responses to both natural and anthropogenic pressures. Their vector competence is governed by complex polygenic traits that affect physiological barriers and immune responses during parasite development. Recent studies reveal that these mosquitoes exhibit rapid behavioral and biochemical adaptations, including shifts in host-seeking behavior and the evolution of insecticide resistance. Mechanisms such as enhanced metabolic detoxification and target site insensitivity have emerged in response to the widespread use of insecticides, thereby eroding the efficacy of conventional interventions like insecticide-treated bed nets and indoor residual spraying. These adaptations not only sustain transmission dynamics in intervention saturated landscapes but also challenge current vector control paradigms, necessitating the development of innovative, integrated management strategies. At the molecular level, P. falciparum exemplifies evolutionary ingenuity through extensive genomic streamlining and metabolic reconfiguration. Its compact genome, a result of strategic gene loss and pruning, is optimized for an obligate parasitic lifestyle. The repurposing of the apicoplast for critical anabolic functions including fatty acid, isoprenoid, and haem biosynthesis highlights the parasite’s ability to exploit host derived nutrients efficiently. Moreover, the rapid accumulation of mutations, coupled with an elaborate repertoire for antigenic switching and epigenetic regulation, not only facilitates immune escape but also accelerates the emergence of antimalarial drug resistance. Advanced high throughput sequencing and functional genomics have begun to elucidate the metabolic epigenetic nexus that governs virulence gene expression and antigenic diversity in P. falciparum. By integrating insights from molecular biology, genomics, and evolutionary ecology, this study delineates the multifaceted co-adaptive dynamics that render malaria a recalcitrant global health threat. Our findings provide critical insights into the molecular arms race at the heart of host–pathogen vector interactions and underscore promising avenues for the development of next generation therapeutic and vector management strategies aimed at sustainable malaria elimination. Full article

Fatty acid binding proteins FABP3 and FABP4 act as intracellular lipid chaperones that influence fatty acid transport and metabolism in mammary tissue, and genetic variation in these genes may affect milk composition. We examined the associations between FABP3 and FABP4 polymorphisms and milk composition and fatty acid profiles in 200 lactating Native Southern Yellow (NSY) cows. DNA from each cow was PCR-amplified and Sanger-sequenced for FABP3 and FABP4; genotypes were tested for their association with milk fatty acid concentrations and standard composition traits using linear models adjusted for relevant covariates. We detected a missense variant in FABP3 (c.3656G > A; p.Val45Met) and an intronic SNP in FABP4 (g.3509T > C). The FABP3 p.Val45Met AA genotype was associated with higher concentrations of butyric, palmitic, oleic, and α-linolenic acids. Cows with the FABP4 TC genotype exhibited elevated levels of myristoleic, γ-linolenic, conjugated linoleic, and arachidic acids, along with increased fat-free dry matter, protein, and lactose. In silico analyses provided mixed evidence for the structural effects of p.Val45Met, molecular docking suggested altered ligand affinity for several fatty acids, and splice site prediction implicated g.3509T > C in possible transcript processing changes. These variants constitute candidate markers for milk fatty acid composition in NSY cattle; replication in independent cohorts and functional validation are recommended to confirm their utility for milk quality improvement. Full article

Background/Objectives: This systematic review aimed to gather the most recent evidence regarding the link between genetic polymorphisms and physical performance in team sports, with a focus on the practical utility of this information for athlete selection, training personalization, and injury prevention. Methods: Sixteen studies published between 2018 and 2025 were analyzed and selected from six international databases, in accordance with the PRISMA guideline. Only English-language studies were included, which evaluated active athletes in team sports and investigated associations between genetic variations, such as Actinin Alpha 3 (ACTN3 R577X), Angiotensin I Converting Enzyme (ACE I/D), Peroxisome Proliferator-Activated Receptor Alpha (PPARA), Interleukin 6 (IL6), and Nitric Oxide Synthase 3 (NOS3), and physical performance parameters. The methodological quality of the studies was assessed using the Q-Genie tool, with all studies scoring over 45 across all 11 items, indicating high quality. Results: The ACTN3 and ACE genes stood out due to their consistent association with traits such as strength, speed, endurance, and recovery capacity. Other genes, such as PPARA, Fatty Acid Amide Hydrolase (FAAH), Angiotensinogen (AGT), and NOS3, complemented this genetic profile by being involved in the regulation of energy metabolism and injury predisposition. An increasing number of studies have begun to adopt cumulative genotype scores, suggesting a shift from a monogenic approach to complex predictive models. Conclusions: The integration of genetic profiling into the evaluation and management of athletes in team sports is becoming increasingly relevant. Although current evidence supports the applicability of these markers, robust future research conducted under standardized conditions is necessary to validate their use in sports practice and to ensure sound ethical standards. Full article

Purslane is highly suitable for intensive microgreen cultivation due to its rapid growth, high germination rate, and exceptional nutritional profile, including omega-3 fatty acids, essential vitamins, and minerals. While previous studies have mostly emphasized its basic composition, our research investigated additional functional traits, such as pigment accumulation and antioxidant activity. We also explored the cultivation potential of a wild purslane genotype (G2), naturally growing in the Botanical Garden of the Slovak University of Agriculture in Nitra, as a sustainable alternative to commercially available seeds (G1). This study examined how genotype and substrate interactions influence growth performance, pigment concentration, and antioxidant capacity in Portulaca oleracea microgreens. Both genotypes were grown on two different substrates: agar mixed with perlite and mineral wool. Although conserved DNA-derived polymorphism marker analysis revealed a high degree of genetic similarity between G1 and G2, significant phenotypic differences were observed. G1 exhibited greater fresh biomass and shoot length, making it more visually appealing for commercial microgreen production. In contrast, G2 showed higher dry matter content and enhanced accumulation of chlorophylls and carotenoids. Antioxidant activity, measured by DPPH (2,2-diphenyl-1-picrylhydrazyl), ABTS (2,2′-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)), and FRAP (Ferric Reducing Antioxidant Power) assays, peaked in G1 cultivated on agar–perlite mix. These findings emphasize the importance of selecting the right genotype–substrate combination to optimize both quality and productivity in microgreen systems. Full article

Camelina sativa is an oilseed crop that has shown strong promise as a biofuel feedstock. The profile of fatty acids greatly influences the oil quality; however, genetic mechanisms that determine the natural variation of fatty acid composition in camelina are not fully understood. A genome wide association study (GWAS) was performed to uncover genetic loci that may contribute to the contents of major fatty acids such as oleic and linolenic acids in camelina seed. Two approaches were taken to improve the GWAS efficiency. First, growing a diversity panel of 212 accessions in four locations and two nitrogen fertilization conditions revealed great variation in fatty acid contents in seeds. Second, using an improved reference genome, abundant markers, including 203,320 single nucleotide polymorphisms (SNPs) and 99,067 insertions/deletions (indels), were developed, which refined the population structure of the diversity panel. GWAS resulted in 118 genetic markers across 31 trait/treatment conditions. Closely linked markers were determined based on linkage decay and by comparing secondarily associated markers when highly associated ones were removed. Candidate genes were examined by comparing the pangenomes of 12 high-quality reference genomes. This study provides new resources to understand seed lipid metabolism and improve camelina oils through molecular breeding. Full article

Background: Metabolic diseases, like type 2 diabetes mellitus and obesity, show a growing public health concern in Sri Lanka. Genetic predisposition and diet contribute to metabolic disease risk, but there are limited investigations into the impact of gene–diet interactions on metabolic disease risk in the Sri Lankan population. In this study, we examined whether a metabolic genetic risk score (GRS), constructed from 10 single nucleotide polymorphisms (SNPs), interacts with dietary factors to influence metabolic health indicators in Sri Lankan adults. Methods: This cross-sectional study included 105 generally healthy adults aged 25–50 years from the GOOD (Genetics of Obesity and Diabetes) study. Anthropometric, biochemical, and dietary data using food frequency questionnaires were collected using validated methods. Genotyping was performed using the KASP^® assay. The unweighted GRS was calculated by summing risk alleles across 10 SNPs in the TCF7L2, CAPN10, FTO KCNJ11, and MC4R genes. Gene–diet interaction analysis was conducted using regression models adjusted for confounders. Results: A statistically significant interaction was identified between the 10-SNP metabolic GRS and polyunsaturated fatty acid (PUFA) intake on waist circumference (P_{(interaction)} = 0.00009). Participants with a high GRS (≥6 risk alleles) and higher PUFA intake (≥3.1 g/day) exhibited significantly lower waist circumference (p = 0.047). Conclusions: This study provides novel insights to understand gene–diet interactions affecting metabolic traits in Sri Lankans. The findings suggest that higher PUFA intake may mitigate genetic susceptibility to central obesity, highlighting the importance of personalized dietary recommendations for metabolic disease prevention. Further studies in larger cohorts are warranted to confirm this finding. Full article

Background: Exfoliation syndrome (XFS) is a form of deleterious ocular aging mediated by genetic and environmental factors that frequently produces glaucoma (XFG). We aimed to develop a genetic risk score (GRS), assess its clinical utility, and identify metabolites/metabolite classes associated with a high GRS. Methods: For 39,472 Nurses’ Health Studies (NHS, 1980–2018; NHS2, 1989–2019) and Health Professionals Follow-up Study (1986–2018) participants aged ≥ 40 years reporting eye exams and no baseline glaucoma, we formed an eight-single nucleotide polymorphism Genetic Risk Score (GRS8) using loci with genome-wide associations with XFS. We estimated relative risks (RR) for incident XFG suspect (XFGS)/XFG (n = 118 cases) and Harrell’s C statistics. Among 7547 participants with plasma metabolites measured via liquid chromatography-mass spectrometry, we evaluated the relation between GRS8 and 427 individual metabolites and 20 metabolite classes, adjusting for multiple comparisons. Results: Higher GRS8 was associated with XFGS/XFG (GRS8 RR_{Quintile(Q)5vs.Q1} = 3.82, 95% CI: 1.76, 8.29). GRS8 significantly (p = 0.04) improved model prediction from C-index of 88% (95% CI: 0.84, 0.92) to 93% (95% CI: 0.91, 0.95) when added to a basic risk model including age, sex, period at risk, intraocular pressure, and glaucoma family history. Metabolite class analyses revealed positive associations of bile acids and inverse associations of fatty acyls with GRS8 (adjusted p < 0.001). Conclusions: XFS GRS8 improved XFGS/XFG prediction, and a higher XFS GRS8 was associated with altered levels of fatty acyl and bile acid metabolite classes. Full article

This study characterized the physicochemical properties of cocoa butter (CB) extracted from cocoa beans of the Criollo Nativo (Peru), Criollo (Mexico), and Forastero (Brazil) varieties subjected to spontaneous fermentation under traditional local conditions in each country. Cocoa samples were collected at 24-h intervals, and CB was extracted to evaluate its lipid composition through fatty acid profiling and spectroscopic techniques (FT-IR and NMR). Also, the thermal and structural properties via differential scanning calorimetry (DSC), including melting and crystallization profiles, crystallization kinetics, and polymorphism, were determined. The results revealed that stearic, oleic, and palmitic acids were predominant in all varieties, while trace levels of myristic and pentadecanoic acids contributed to molecular packing. FT-IR identified bands associated with glycerol chain formation in TAGs, which were confirmed by NMR through chemical shifts linked to the distribution of POS, SOS, and POP species. CB exhibited melting temperatures between 19.6 and 20.5 °C, favoring polymorphic transitions toward more stable forms. Form I (γ) predominated during early fermentation, while Forms II (α) and III (β′₂) were subsequently identified, particularly in Criollo varieties. These findings demonstrate that fermentation time significantly influences the chemical composition, oxidative stability, and crystalline structure of CB, providing valuable insights for optimizing cocoa processing and the development of high-quality chocolate products. Full article

Background/Objectives: Atherosclerosis is a major contributor to ischemic cardiovascular diseases (CVDs) such as myocardial infarction and stroke, which are leading causes of mortality and morbidity. The management of atherosclerosis through personalized nutrition has gained importance in recent years due to advancements in nutrigenomics, gut microbiome evaluation, and metabolomics. However, no systematic review has comprehensively evaluated the impact of personalized nutrition interventions on atherosclerotic plaque progression and clinical outcomes in humans. Methods: We adopted a systematic approach based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Key databases like PubMed, Cochrane, Google Scholar, and MEDLINE via EBSCOhost were searched using predefined terms related to personalized nutrition, atherosclerosis, nutrigenomics, and clinical outcomes. Results: Evidence evaluation using the framework of Boffetta et al. for cumulative evidence on the joint effects of genes and environments strongly suggested significant diet–gene interactions. Polymorphisms in the apolipoprotein A-II (APOA2) gene have been shown to influence body mass index and lipid levels. Furthermore, studies have demonstrated that omega-3 polyunsaturated fatty acids (PUFAs) can modulate microRNA expression, thereby impacting lipid metabolism. Epigenetic studies showed that dietary components can modify histone acetylation and non-coding RNA activity, which ultimately influence gene expression related to inflammation and lipid metabolism, improving clinical outcomes in atherosclerosis management. Conclusions: Integrating personalized nutrition into clinical practice promises to enhance atherosclerosis outcomes through targeted dietary interventions. Advancements in personalized nutrition offer a promising pathway toward more effective and personalized approaches to cardiovascular health. Full article

The endangered Bengal slow loris (Nycticebus bengalensis) relies heavily on captive/rescue populations for conservation. This study investigated the critical link between Major Histocompatibility Complex (MHC) class II DRB1 exon 2 (DRB1e2) genetic variation and gut microbiota in 46 captive individuals, aiming to improve ex situ management. Using standardized conditions across three enclosure types, we characterized DRB1e2 polymorphism via targeted sequencing and analyzed fecal microbiota using 16S rRNA gene amplicon sequencing. Results demonstrated that high DRB1e2 polymorphism significantly reduced microbial community evenness. Specific genotypes showed distinct microbial associations: G9 strongly correlated with beneficial short-chain fatty acid producers like Fructobacillus, and G2 positively correlated with Bifidobacterium spp., while G2, G3, and G4 correlated negatively with Buchnera (a nutrient-provisioning symbiont). Genotypes and polymorphism collectively explained 9.77% of microbiota variation, exceeding the weaker (5.15%), though significant, influence of enclosure type on β-diversity. These findings reveal that host DRB1e2 variation is a primary driver shaping gut microbiota structure and taxon abundance in captive slow lorises, providing evidence for MHC-mediated host–microbe co-adaptation. This offers a genetically informed framework for optimizing conservation strategies, such as tailoring diets or probiotics to specific genotypes, to enhance gut health and population viability. Full article

Flax (Linum usitatissimum L.) is a globally important oilseed crop, valued for its edible and industrial uses. Flax seeds are rich in unsaturated fatty acids. In this study, ethyl methyl sulfone was employed to construct a mutant library from the flax cultivar Longya 10 (WT). Screening efforts identified M45, a stable mutant with an oleic acid content of 43.22% at 40 days after flowering, representing a 21.23% increase over the wild-type. RNA-Seq analysis revealed the presence of two homologs of the SAD (stearoyl-ACP desaturase) family and two homologs of the FAD2 (fatty acid desaturase 2) family, which showed differential expression in a trend consistent with the phenotype of M45. A BSA-Seq analysis was conducted to identify genes with SNPs (single nucleotide polymorphisms) and Indel (insertions/deletions) variant loci that were associated with increased oleic acid. The combination of BSA-Seq, RNA-Seq, and metabolomic analyses identified L.us.o.g.scaffold122.86, a gene that may be co-expressed with L.us.o.g.scaffold7.26 to affect oleic acid accumulation via FAD2. Full article

This review explores the dual role of reactive oxygen species (ROS) and free radicals in the pathogenesis of endometriosis, aiming to deepen our understanding of these processes through a systematic literature review. To assess the induction and involvement of ROS in endometriosis, we conducted a comprehensive literature review using Cochrane Libraries, EMBASE, Google Scholar, PubMed, and SCOPUS databases. Of 30 qualifying papers ultimately reviewed, 28 reported a significant contribution of ROS to the pathogenesis of endometriosis, while two found no association. The presence of ROS in endometriosis is associated with infertility, irregular menstrual cycles, painful menstruation, and chronic pelvic discomfort. Among individual ROS types studied, hydrogen peroxide was most frequently investigated, followed by lipid peroxides and superoxide radicals. Notable polymorphisms associated with ROS in endometriosis include those for AT-rich interactive domain 1A (ARID1A) and quinone oxidoreductase 1 (NQO1) isoforms. Key enzymes for ROS scavenging and detoxification include superoxide dismutase, glutathione, and glutathione peroxidase. Effective inhibitors of ROS related to endometriosis are vitamins C and E, astaxanthin, fatty acid-binding protein 4, cerium oxide nanoparticles (nanoceria), osteopontin, sphingosine 1-phosphate, N-acetyl-L-cysteine, catalase, and a high-antioxidant diet. Elevated levels of ROS and free radicals are involved in the pathogenesis of endometriosis, suggesting that targeting these molecules could offer potential therapeutic strategies. Full article

Background: Non-contact tissue injury in elite athletes is influenced by multiple factors, including genetic predisposition. Although previous research has identified several genetic markers associated with injury susceptibility, the role of the CD36 (cluster of differentiation 36) gene, a key regulator of fatty acid transport into skeletal muscle and other vital tissues, remains unexplored in this context. A single-nucleotide polymorphism in the CD36 gene (rs1761667) involves an A-to-G substitution (with three genotypes = AA and GG homozygotes and AG heterozygotes), and previous data have reported that individuals carrying the AA genotype of the CD36 gene show reduced expression of the CD36 protein and poorer lipid metabolism. Additionally, it has been recently found that the frequency of the AA genotype is significantly lower in elite cyclists compared to field hockey players. No previous study has examined the association between the CD36 rs1761667 polymorphism and athlete injury risk. Therefore, the aim of this study was to investigate the potential association between the CD36 rs1761667 polymorphism and non-contact tissue injury susceptibility in elite Moroccan cyclists and field hockey players. Methods: Forty-three elite Moroccan male athletes, including 19 cyclists and 24 national team field hockey players, volunteered for this study. Non-contact tissue injuries during the 2022/2023 sports season have been recorded. Genotyping of the CD36 rs1761667 polymorphism was carried out using Sanger sequencing. Chi-square tests were used to analyze the Hardy–Weinberg equilibrium and compare the genotypes and characteristics of athletes with and without non-contact injuries. Results: During the 2022/2023 sports season, 21.05% of cyclists (4 out of 19) and 33.33% of field hockey players (8 out of 24) experienced non-contact tissue injuries. The genotypic frequency was similar in the injured and non-injured groups among cyclists (χ² and p not calculated because “AA = 0” in both groups), field hockey players (χ² = 3.30, p = 0.19), and all athletes (χ² = 1.73, p = 0.41). Additionally, the dominant model of the CD36 rs1761667 polymorphism (AA+AG vs. GG) did not reveal a significant risk of non-contact injuries among cyclists (OR: 1.20, 95% CI: 0.13–19.09, p > 0.9999), field hockey players (OR: infinity, 95% CI: 0.23-infinity, p = 0.53), and all athletes (OR: 2.75, 95% CI: 0.32–34.12, p = 0.65). Furthermore, the recessive model (AA vs. AG+GG) did not demonstrate any effect on the risk of non-contact injuries in cyclists (OR and 95% CI not calculated, p > 0.9999), field hockey players (OR: 0.33, 95% CI: 0.05–2.40, p = 0.38), and all athletes (OR: 0.55, 95% CI: 0.10–2.60, p = 0.69). Conclusions: This study suggests that the association between specific genotypes (AA, AG, and GG) or alleles (A and G) of the CD36 gene and susceptibility to non-contact tissue injuries in Moroccan cycling and field hockey players is uncertain. Given the small sample size, further studies will be needed to explore and confirm these findings. Full article

Epidemiological studies report inconsistent findings regarding the association between dietary polyunsaturated fatty acid (PUFA) intake and cancer risk. Genetic variations—particularly single-nucleotide polymorphisms (SNPs) in the FADS1 and FADS2 genes—affect PUFA metabolism, linking circulating PUFA levels to the risk of several cancers, including breast, colorectal, prostate, and pancreatic cancers. This review aimed to investigate the relationship between FADS1 and FADS2 gene variants and dietary intake, supplementation, or intervention with omega-3 fatty acids, gamma-linolenic acid (GLA), or their combination in cancer patients. A secondary objective was to examine genetically determined fatty acid profiles—shaped by FADS1 and FADS2 polymorphisms—in cancer patients without intervention and their potential association with PUFA-related cancer risk. A systematic search of the Scopus, PubMed, and Web of Science databases (up to 2024) identified 11 eligible studies out of 298 initial records. Analysis of the available literature suggests that specific FADS genotypes influence long-chain PUFA (LC-PUFA) concentrations in blood and tissues and that altered LC-PUFA levels may contribute to cancer development. The most consistent association identified is between the rs174537 variant and altered PUFA metabolism in prostate and breast cancer. However, conclusive evidence is lacking on the impact of dietary patterns on FADS desaturase activity or expression. Only one study has examined omega-3 supplementation in relation to FADS gene variants in prostate cancer patients, while the effects of GLA supplementation remain unexplored. Given the relative novelty of this research area and the limited number of studies, future investigations should integrate dietary PUFA intake, genetic variation in PUFA-metabolizing enzymes, and potential gene–nutrient interactions involving FADS gene polymorphisms and PUFAs to clarify their role in cancer risk. Full article

As a globally important leguminous crop, soybean (Glycine max L.) serves as a vital source of edible oils and proteins for humans and livestock. Oils in leaves can help crops combat fungal infections, adapt to temperature changes via fatty acid modulation, and support resource recycling during leaf senescence. However, accumulating oils in leaves is a fundamental challenge due to the need to balance the inherently competing photosynthesis and fatty acid biosynthesis processes within chloroplasts. RETICULATA-RELATED (RER), known to regulate chloroplast function and plastid metabolism in Arabidopsis, plays an essential role in leaf development. Here, 14 non-redundant GmRER genes were identified in soybean and phylogenetically classified into four subclades. Most Arabidopsis RER genes were evolutionarily preserved as gene duplicates in soybean, except for GmRER5 and GmRER6. RNA secondary structures spanning the coding sequences (CDSs), the 5′- and 3′- untranslated regions (UTRs) of GmRERs, displayed exceptional structural plasticity in CDSs, while exhibiting limited conservation in UTRs. In contrast, protein structures retained conserved folds, underscoring evolutionary constraints on functional domains despite transcriptional plasticity. Notably, GmRER4a and GmRER4b represented an exceptional case of high similarity in both protein and RNA structures. Expression profiling across fourteen tissues and three abiotic stress conditions revealed a dynamic shift in expression levels between leaf-predominant and root-enriched GmRER paralogs after stress treatments. A comparative transcriptome analysis of six soybean landraces further revealed transcriptional polymorphism in the GmRER family, which was associated with the expression patterns of lipid biosynthesis regulators. Our comprehensive characterization of GmRERs may offer potential targets for soybean breeding optimization in overall plant oil production. Full article