Diego Ortiz da Silva, Leonardo Carlos Jeronimo Corvalán, Ramilla Dos Santos Braga-Ferreira, Cíntia Pelegrineti Targueta, Marcio Roberto Pie, Leo Caetano Fernandes Silva, Rhewter Nunes, Mariana Pires de Campos Telles
{"title":"Complete mitochondrial genomes of three Cichla species: Annotation, diversity, and phylogenetic insights.","authors":"Diego Ortiz da Silva, Leonardo Carlos Jeronimo Corvalán, Ramilla Dos Santos Braga-Ferreira, Cíntia Pelegrineti Targueta, Marcio Roberto Pie, Leo Caetano Fernandes Silva, Rhewter Nunes, Mariana Pires de Campos Telles","doi":"10.1590/1678-4685-GMB-2025-0008","DOIUrl":"10.1590/1678-4685-GMB-2025-0008","url":null,"abstract":"<p><p>The Cichlidae family, especially the South American genus Cichla, is notable for its rapid diversification and ecological impacts following introductions outside its native range. In this study, we first describe the mitogenomes of three Cichla species. The mitogenome of Cichla piquiti was sequenced from a sample collected at Serra da Mesa Lake, located in the state of Goiás, Brazil. Additionally, the mitogenomes of Cichla monoculus and Cichla temensis were assembled using public data. The mitogenomes were assembled using NovoPlasty, and comparative analyses were performed, including those of the Cichla ocellaris mitogenome data. The mitogenomes ranged from 16,526 bp (C. monoculus) to 16,536 bp (C. piquiti), exhibiting a conserved genomic structure with 13 protein-coding genes, 22 tRNAs, and two rRNAs. These mitogenomes were validated by reconstructing phylogenetic relationships within the Cichlinae subfamily. We identified nucleotide composition biases and observed high nucleotide diversity in the D-loop region. Phylogenetic analysis based on complete mitogenome data indicated that Cichla species form a clade with C. ocellaris, a sister clade to Retroculini. This study provides new mitogenomic insights into Cichla, offering valuable genomic resources for species identification and ecological monitoring.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 3","pages":"e20250008"},"PeriodicalIF":1.7,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148591218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gustavo Medina Tavares, Bastien Llamas, Rafael Bisso-Machado
{"title":"Continuity and discontinuity in Native American populations: Insights from ancient and modern mitochondrial DNA.","authors":"Gustavo Medina Tavares, Bastien Llamas, Rafael Bisso-Machado","doi":"10.1590/1678-4685-GMB-2025-0248","DOIUrl":"10.1590/1678-4685-GMB-2025-0248","url":null,"abstract":"<p><p>Ancient DNA research has expanded dramatically in recent years, transforming reconstructions of how and when humans settled the American continent. In this review, we synthesize evidence for genetic temporal continuity and discontinuity in Native American population history using mitochondrial DNA (mtDNA) from ancient and contemporary individuals. We systematically surveyed studies indexed in PubMed, ResearchGate, and Google Scholar, extending earlier compilations with publications through October 2025. For each population, we compiled sample sizes, mtDNA haplogroup frequencies, geographic coordinates, and associated archaeological and chronological information. These data were used to map the spatial distribution of founding mtDNA lineages, examine regional trajectories of haplogroup frequencies, and characterize patterns of mitochondrial population structure. Geographic distance showed a statistically detectable but limited association with mtDNA differentiation. Time-ordered haplogroup frequency series revealed region-specific dynamics, including long-term persistence of maternal lineages as well as marked episodes of turnover, some coincident with major cultural transitions. Genetic data were obtained from 315 studies. The dataset for contemporary populations included 23,315 individuals from 322 populations, while ancient DNA data included 4,192 individuals associated with 211 archaeological populations. Together, these data provide a comprehensive synthesis of mtDNA-based temporal and spatial patterns relevant to the peopling of the American continent.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250248"},"PeriodicalIF":1.7,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148535796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Taíssa Maíra Thomaz Araújo, Bianca de Fátima Dos Reis Rodrigues, Jessica Manoelli Costa da Silva, Myrth Soares do Nascimento Remígio, Fabiano Cordeiro Moreira, Samir Mansour Moares Casseb, Williams Fernandes Barra, Geraldo Ishak, Ana Karyssa Mendes Anaissi, Leandro Magalhães, Amanda Vidal, Ronald Matheus da Silva Mourão, Eliel Barbosa Teixeira, Diego Pereira, Valéria Cristiane Santos da Silva, Daniel de Souza Avelar, Rubem Ferreira Silva, Ândrea Kely Ribeiro Dos Santos, Samia Demachki, Livia Erika Carlos Marques, Rommel Rodriguez Burbano, Paulo Pimentel de Assumpção
{"title":"Molecular insights into ANPEP in gastric adenocarcinoma.","authors":"Taíssa Maíra Thomaz Araújo, Bianca de Fátima Dos Reis Rodrigues, Jessica Manoelli Costa da Silva, Myrth Soares do Nascimento Remígio, Fabiano Cordeiro Moreira, Samir Mansour Moares Casseb, Williams Fernandes Barra, Geraldo Ishak, Ana Karyssa Mendes Anaissi, Leandro Magalhães, Amanda Vidal, Ronald Matheus da Silva Mourão, Eliel Barbosa Teixeira, Diego Pereira, Valéria Cristiane Santos da Silva, Daniel de Souza Avelar, Rubem Ferreira Silva, Ândrea Kely Ribeiro Dos Santos, Samia Demachki, Livia Erika Carlos Marques, Rommel Rodriguez Burbano, Paulo Pimentel de Assumpção","doi":"10.1590/1678-4685-GMB-2025-0110","DOIUrl":"10.1590/1678-4685-GMB-2025-0110","url":null,"abstract":"<p><p>Alanyl aminopeptidase (ANPEP) has been implicated in various cancers, but its specific role in gastric adenocarcinoma (GC) remains incompletely understood. This study analyzed ANPEP gene expression in gastric cancer (GC), peritumoral tissue (PTT), metaplasia (M), and normal tissue (N). Total RNA was extracted, libraries were prepared and sequenced on the Illumina NextSeq 500. Data were processed using the nf-core/rnaseq pipeline. Transcript quantifications were imported with tximport and normalized using DESeq2. Differential expression (|log₂FC| > 1; adj. p < 0.05) and Kruskal-Wallis tests identified key genes. ANPEP was significantly upregulated in GC, PTT, and M compared to normal tissue (p < 0.01), suggesting its involvement in early mucosal transformation and malignant progression. Heatmap and pathway enrichment analysis revealed upregulation of genes related to immune function and oxidative stress, indicating an immunosuppressive and apoptosis-resistant tumor microenvironment. Correlation analyses identified strong positive associations between ANPEP and genes involved in cytoskeletal remodeling, immune modulation, and metabolic regulation, suggesting that ANPEP supports both the invasive potential of tumor cells and the establishment of an immunosuppressive, therapy-resistant niche. These findings position ANPEP as a promising biomarker for early detection and a candidate for targeted therapies.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250110"},"PeriodicalIF":1.7,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148535808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evolutionary patterns in squamate mitogenomes: Are selective regimes associated with fossoriality and limblessness?","authors":"Anieli Guirro Pereira, Vinicius Anelli, Rubens Pasa, Karine Frehner Kavalco, Fabiano Bezerra Menegidio, Tiana Kohlsdorf","doi":"10.1590/1678-4685-GMB-2025-0226","DOIUrl":"10.1590/1678-4685-GMB-2025-0226","url":null,"abstract":"<p><p>The snakelike phenotype is characterized by limb reduction and body elongation, and independently evolved in several vertebrate lineages. This phenotype is often interpreted as adaptive to fossoriality or use of complex habitats. Limblessness and fossoriality might impose different energetic requirements for locomotion, affecting selective rates on mitochondrial genes. Previous studies identified signals of differential selection in mitochondrial genes of limbless lizards and fossorial rodents. However, it remains unclear which of these factors most intensely shapes mitochondrial genome evolution in Squamata. Amphisbaenia is a key group to answer this question, as it is one of the largest lineages of limbless and fossorial squamates. Here we report a new complete mitochondrial genome of Amphisbaena alba and address the relationships between limblessness and fossoriality in the evolution of mitochondrial genes in Squamata. The full length of the A. alba mitochondrial genome was 16,800 bp (13 protein-coding genes, 22 transfer RNAs, two ribosomal RNAs and the control region). We performed selective tests, allowing different rates for clades with limbless and fossorial species separately. Fossorial species have significant changes in selective rates in more mitochondrial genes than the limbless species, a result suggesting fossoriality as a prevalent factor shaping selective pressures on mitochondrial genes.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 2 Suppl 2","pages":"e20250226"},"PeriodicalIF":1.7,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13384248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148535752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"From assemblies to ancestry: Genomic advances illuminates legume evolution.","authors":"Thiago Nascimento, Andrea Pedrosa-Harand","doi":"10.1590/1678-4685-GMB-2025-0245","DOIUrl":"10.1590/1678-4685-GMB-2025-0245","url":null,"abstract":"<p><p>Legumes are diverse, wide-spread and important both ecologically and economically. These features prompted the establishment of hundreds of genome assemblies as resources to investigate key biological questions. In this review, we introduce the reader to the Fabaceae (Leguminosae) family highlighting the importance and great diversity of this group of plants. The major insights gained from studying genomic variation in the legumes are discussed, with focus on whole genome duplications, ancestral chromosome numbers and key biological novelties such as the ability to fix nitrogen through symbiosis with bacteria.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250245"},"PeriodicalIF":1.7,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13390786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148561567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diana Lucía Buitrago-Torres, Alejandra Bonilla-Sánchez, Isadora Teresa França Pereira, Caroline Charão Sartor, Tatiane Campos Trigo, Giovanna Medeiros Tavares de Oliveira, Tadeu Gomes de Oliveira, Fernando Angulo, Lizette Bermudez Larrazábal, Gianmarco Rojas Moreno, Jorge L Ramirez, Mariano Mavila, Tatiana Quevedo, Héctor E Ramírez-Chaves, Paola Pulido-Santacruz, Larissa R Oliveira, Eduardo Eizirik
{"title":"Strong evidence of mitochondrial polyphyly of the Leopardus tigrinus (Mammalia, Felidae) species complex revealed by expanded analyses of Andean populations.","authors":"Diana Lucía Buitrago-Torres, Alejandra Bonilla-Sánchez, Isadora Teresa França Pereira, Caroline Charão Sartor, Tatiane Campos Trigo, Giovanna Medeiros Tavares de Oliveira, Tadeu Gomes de Oliveira, Fernando Angulo, Lizette Bermudez Larrazábal, Gianmarco Rojas Moreno, Jorge L Ramirez, Mariano Mavila, Tatiana Quevedo, Héctor E Ramírez-Chaves, Paola Pulido-Santacruz, Larissa R Oliveira, Eduardo Eizirik","doi":"10.1590/1678-4685-GMB-2025-0231","DOIUrl":"10.1590/1678-4685-GMB-2025-0231","url":null,"abstract":"<p><p>Over the past two decades, molecular data have revealed a complex evolutionary history for the Neotropical felid genus Leopardus. A particularly problematic subset has been the L. tigrinus complex, which has been demonstrated to comprise more than one species. Recent molecular data indicated that it is not even monophyletic, comprising distinct Leopardus lineages with a similar morphology, which likely underlies the assumption that they formed a single species. To further investigate its composition and evolutionary history, we generated mtDNA data from multiple individuals sampled in Andean regions of Colombia and Peru. The Colombian samples formed a well-supported clade that was the sister-group of the Costa Rican lineage. Remarkably, the Peruvian L. tigrinus samples formed a different clade, placed at a distinct location within the Leopardus phylogeny, as a sister-group to (L. pardalis + L. wiedii). This unexpected result extends the inference of non-monophyly of the L. tigrinus complex, and raises the possibility that additional taxonomic entities may be contained in this genus.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20250231"},"PeriodicalIF":1.7,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148535779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Miguel Ángel Cáceres-Durán, Ândrea Ribeiro-Dos-Santos
{"title":"Nutriepigenetics and nutriepigenomics: Exploring the interactions between nutrition, epigenetics, and epigenomics in the pathogenesis of noncommunicable diseases.","authors":"Miguel Ángel Cáceres-Durán, Ândrea Ribeiro-Dos-Santos","doi":"10.1590/1678-4685-GMB-2025-0113","DOIUrl":"10.1590/1678-4685-GMB-2025-0113","url":null,"abstract":"<p><p>The complex interaction between nutrition, epigenetics, and epigenomics in non-communicable diseases (NCDs) such as cardiovascular diseases, obesity, type 2 diabetes mellitus (T2DM), and cancer highlights the crucial role of nutrition as an environmental factor influencing gene expression through epigenetic mechanisms such as DNA methylation, histone modifications, and regulation through non-coding RNAs (ncRNAs). The aim of this review is to explore the importance of interactions between nutrition-epigenetics interactions in the pathogenesis of NCDs and in the development of personalized prevention and treatment strategies. These nutriepigenetic and nutriepigenomic processes are fundamental for understanding the underlying molecular mechanisms of NCDs development. Diet plays a central role in modulating gene expression, and studies indicate how nutrients and bioactive compounds in food can directly affect epigenetic patterns, influencing the risk and progression of NCDs. For example, dietary effects on DNA methylation and miRNA expression have been associated with changes in susceptibility to cardiovascular diseases, obesity, and T2DM. Additionally, phytochemicals such as curcumin, genistein, quercetin, equol, among others found in certain foods can epigenetically modulate gene expression, playing a role in cancer prevention. The complexity of nutriepigenetic and nutriepigenomic systems highlights the need for a personalized approach to disease prevention and treatment. Understanding how diet influences epigenetic patterns can provide crucial insights for the development of more targeted and effective therapeutic strategies, ultimately underscoring the growing translational value of nutriepigenetics and nutriepigenomics in advancing precision medicine and informing population-level interventions, reinforcing their clinical, preventive, and societal impact in mitigating the burden of NCDs.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250113"},"PeriodicalIF":1.7,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13378911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148470118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renata M S Ono, Jessica E B F Lima, John A S P Lira, Fernanda C A Sanches, Larissa O Piassi, Luisa B V Coelho, Natalia C S Moreira, Elza T Sakamoto-Hojo
{"title":"Molecular and cellular processes connecting type 2 diabetes to Alzheimer's disease, focusing on oxidative stress, metabolic dysfunction, and neurodegeneration.","authors":"Renata M S Ono, Jessica E B F Lima, John A S P Lira, Fernanda C A Sanches, Larissa O Piassi, Luisa B V Coelho, Natalia C S Moreira, Elza T Sakamoto-Hojo","doi":"10.1590/1678-4685-GMB-2025-0233","DOIUrl":"10.1590/1678-4685-GMB-2025-0233","url":null,"abstract":"<p><p>Advancing age has been associated with an imbalance between a gradual increase in reactive oxygen species (ROS) production and a decline in the efficiency of antioxidant defense mechanisms. Due to the fact that organisms are constantly exposed to endogenous and exogenous ROS sources, this condition of oxidative stress promotes a systemic pro-oxidant state that, in conjunction with many other risk factors, progressively worsens throughout life, triggering the development of chronic diseases, such as type 2 diabetes (T2D) and Alzheimer's disease (AD). These diseases have emerged as closely interconnected conditions that share some common molecular and cellular mechanisms. In this review, on the light of literature data, we explore the interconnection between several pathological processes implicated in both diseases, focusing on a series of cellular and molecular alterations, from metabolic dysfunction to neurodegeneration (including insulin resistance, oxidative stress, mitochondrial and endoplasmic reticulum dysfunction, among others). We highlight how the connection between those processes may culminate in the development of neurodegeneration and disease progression. Furthermore, we discuss the challenges and limitations to model those diseases, emphasizing some aspects of the current knowledge in terms of providing new perspectives to the development of multi-target therapeutic approaches.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250233"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bruno de Oliveira Cruz, Alessandro de Mello Varani, Sílvia de Oliveira Miranda, Juliana Ramos Martins, Daniel Guariz Pinheiro, Angel Roberto Barchuk
{"title":"Molecular perspectives on life-history evolution in Bruchinae seed beetles.","authors":"Bruno de Oliveira Cruz, Alessandro de Mello Varani, Sílvia de Oliveira Miranda, Juliana Ramos Martins, Daniel Guariz Pinheiro, Angel Roberto Barchuk","doi":"10.1590/1678-4685-GMB-2025-0211","DOIUrl":"10.1590/1678-4685-GMB-2025-0211","url":null,"abstract":"<p><p>Phytophagous beetles represent one of the largest groups of plant-feeding insects. With about 135,000 described species, they exploit seeds, leaves, stems, and wood. Within this diversity, the subfamily Bruchinae has a distinctive ecological niche: larvae develop inside legume seeds. These beetles are major agricultural pests, responsible for up to 20% losses in legume grain value. This yield loss represents a severe problem, as legumes provide essential dietary protein for roughly 75% of people in developing countries. Despite their importance, the molecular foundations of life-history traits facilitating Bruchinae adaptation to seeds have only recently begun to be explored, leaving current knowledge sparse and fragmented. This review synthesizes current knowledge of the molecular mechanisms underlying the nutritional and digestive challenges faced by beetles during seed infestation, reproduction, and development, as well as during host shifts to novel or unusual legumes. Drawing on well-established examples, it examines key processes involved in the co-evolutionary dynamics between phytophagous insects and their host plants, while highlighting recent genomic advances that are accelerating discovery in these fields. Collectively, the review integrates both historical and contemporary molecular perspectives on life-history evolution in Bruchinae seed beetles.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250211"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Greice de L Cardoso-Costa, Fernando Mendes Paschoal Junior, Bruno Miranda, Alessandro Cardoso Rodrigues, Giovanna C Cavalcante, Caio S Silva, Saide Maria Sarmento Trindade, Sergio Antônio Batista Dos Santos, Milene Moraes Raiol, Cristina Maria Duarte Valente, Leticia Dias Martins, Nelson Machado da Silva de Lima, Joelma Karin Sagica Fernandes Paschoal, Fernanda Andreza P L Figueiredo, Sidney Santos, Eric Homero Albuquerque Paschoal, Ândrea Ribeiro-Dos-Santos
{"title":"Relationship between biomarkers and stroke risk in sickle cell disease odds in an Amazon folk.","authors":"Greice de L Cardoso-Costa, Fernando Mendes Paschoal Junior, Bruno Miranda, Alessandro Cardoso Rodrigues, Giovanna C Cavalcante, Caio S Silva, Saide Maria Sarmento Trindade, Sergio Antônio Batista Dos Santos, Milene Moraes Raiol, Cristina Maria Duarte Valente, Leticia Dias Martins, Nelson Machado da Silva de Lima, Joelma Karin Sagica Fernandes Paschoal, Fernanda Andreza P L Figueiredo, Sidney Santos, Eric Homero Albuquerque Paschoal, Ândrea Ribeiro-Dos-Santos","doi":"10.1590/1678-4685-GMB-2025-0107","DOIUrl":"10.1590/1678-4685-GMB-2025-0107","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is defined by important heterogeneity between patients, but this clinical presentation mutability is not well understood. Therefore, this immense phenotypic variability calls for research into risk factors associated with greater chance of developing stroke in a specific population at Amazon forest. This study sought to explore the relationship between genetic markers of inflammatory process and the clinical risk of stroke in people with sickle cell anemia. The authors presented 70 patients (87.5%) were classified in group 1, without a stroke clinic, and 10 patients (12.5%) in group 2, with this clinic. These groups were subdivided in relation to the Doppler examination. Detailed analysis of genetic polymorphisms in specific subgroups revealed that variants in the CYP19A1 and MDM2 genes, in the group of patients without clinical stroke, showed statistical significance, indicating a possible protective effect against the stroke phenotype. Among patients who had a stroke, the variant in the CASP8 gene was statistically significant, suggesting that some genotypes may have a greater effect on the evolution of the stroke in patients with sickle cell anemia. Future studies should seek to include more patients with complete Doppler data and explore other variables that may affect stroke risk.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250107"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}