Major Depressive Disorder (MDD) is a highly prevalent multifactorial psychopathology affected by neurotransmitter levels. Monoamine Oxidase A (MAOA) influences several neural pathways by modulating these levels. This systematic review (per PRISMA protocol and PECOS strategy) endeavors to understand the MAOA uVNTR polymorphism influence on MDD and evaluate its 3R/3R and 3R* genotypic frequencies fluctuation in MDD patients from different populations. We searched the Web of Science, PubMed, Virtual Health Library, and EMBASE databases for eligible original articles that brought data on genotypic frequencies related to the MAOA uVNTR variant in patients with MDD. We excluded studies with incomplete data (including statistical data), reviews, meta-analyses, and abstracts. Initially, we found 43 articles. After removing duplicates and applying the inclusion/exclusion criteria, seven articles remained. The population samples studied were predominantly Asians, with high 3R and 4R allele frequencies. Notably, we observed higher 3R/3R (female) and 3R* (male) genotype frequencies in the healthy control groups and higher 4R/4R (female) and 4R* (male) genotype frequencies in the MDD groups in the majority of different populations. Despite some similarities in the articles analyzed, there is still no consensus on the MAOA uVNTR variant’s role in MDD pathogenesis.

Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (−248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (−248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123–0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163–0.793). The BAX gene polymorphism (−248 G > A) was associated with papillary thyroid cancer. BAX (−248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.

Background/Objectives: Stroke remains a leading global cause of death and disability, resulting from acute focal injury to the central nervous system. The brain-derived neurotrophic factor (BDNF) gene has been extensively investigated for its involvement in post-stroke neuroplasticity and recovery. This systematic review examines the influence of the BDNF Val66Met (rs6265) variant on functional recovery during the acute and early subacute phases of primary stroke. Methods: The review followed PRISMA guidelines and was registered in PROSPERO (CRD42024549967). Comprehensive literature searches were performed in PubMed, Web of Science, and the Virtual Health Library in December 2024 to identify observational and interventional studies involving adults with acute or subacute primary stroke that evaluated this polymorphism. Results: Of 475 records identified, 11 studies met the inclusion criteria. Sample sizes ranged from 14 to 829 participants, with follow-up intervals ranging from 2 days to 3 months post-stroke. All studies included ischemic stroke, and seven also included hemorrhagic stroke cases. Outcomes assessed were motor recovery, cortical excitability, swallowing, and language function. Overall, most studies reported poorer recovery among Met allele carriers (Val/Met or Met/Met), particularly in motor outcomes. Evidence for cortical excitability and swallowing also suggested unfavorable effects, while language outcomes were inconclusive. Methodological heterogeneity contributed to inconsistent findings. Conclusions: The Met carriers were the most prevalent and frequently associated with poorer post-stroke outcomes, though results varied. These findings underscore the complex interplay between genetics and post-stroke recovery and indicate the need for more robust, standardized research across diverse populations.

Objetivo: Descrever a presença do polimorfismo da região codante do gene CHGA Glu264Asp e associa-lo com as características clinicas da doença. Método: Trata-se de um estudo transversal, descritivo e de caso controle para investigar o polimorfismo da CHGA Glu264Asp por meio de amostras de sangue de 53 indivíduos sendo o grupo caso, formado por 23 pacientes, de ambos os sexos, que sofreram a tireoidectomia e foram submetidos ao tratamento com o Radiofármaco Iodeto de Sódio (I131). Para a genotipagem foi utilizada a técnica PCR-RFLP. Foi adotado o nível de significância de 5%. Resultados: Houve diferença estatística significativa na distribuição alélica entre indivíduos com câncer papilífero da tireoide e os sadios. Com tudo, a presença do alelo G é um fator de risco para o câncer papilífero da tireoide. Observou-se uma correlação entre o genótipo GG com o aumento do nível de TSH em pacientes que apresentavam essa patologia. Conclusão: Demostrou-se que o alelo selvagem pode ser um fator de risco para o desenvolvimento da neoplasia tireoidiana do tipo papilar. Por ser uma doença de etiologia multifatorial, são necessários outros estudos em populações diferentes para melhor compreensão da doença.

Introduction: PCSK9 encodes a protein that regulates cholesterol homeostasis by promoting degradation of the low-density lipoprotein receptor (LDLR), thereby increasing plasma LDL-cholesterol levels and influencing cardiovascular risk

Introduction: Cytochrome P450 (CYP) enzymes are essential for metabolizing drugs, hormones, and environmental compounds