Polymorphism
Mostrando 1-12 de 6125 artigos, teses e dissertações.
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1. PNPLA3 GENE POLYMORPHISM AND RED MEAT CONSUMPTION INCREASED FIBROSIS RISK IN NASH BIOPSY-PROVEN PATIENTS UNDER MEDICAL FOLLOW-UP IN A TERTIARY CENTER IN SOUTHWEST BRAZIL
RESUMO Contexto: Estudos recentes mostram um aumento da doença hepática gordurosa não alcoólica (DHGNA) em populações com maior consumo de carne vermelha, processada e cozida em altas temperaturas. Por outro lado, o polimorfismo rs738409 no gene Patatin-like fosfolipase contendo 3 (PNPLA3) tem sido implicado na suscetibilidade à DHGNA e fibrose hepá
Arquivos de Gastroenterologia. Publicado em: 2023
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2. Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis
SUMMARY OBJECTIVE: Sepsis is a complex and serious medical condition resulting from the activation of an innate host response to infections. The etiology of sepsis is complex and can be influenced by genetic susceptibility. The purpose of the present study was to investigate a possible association of Rho-kinase 1 (ROCK1) gene polymorphism with sepsis in a T
Revista da Associação Médica Brasileira. Publicado em: 2022
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3. 9p21 Locus Polymorphisms: Risk and Severity Factors of Coronary Artery Disease in Venezuelan Patients
Abstract Background: The 9p21 region is the most relevant locus associated with coronary heart disease in different populations. However, there are no studies that prove that this region is a risk factor in the Venezuelan population. Objectives: To analyze whether or not the 9p21 rs1333049 polymorphism is a risk factor for acute myocardial infarction (AMI)
International Journal of Cardiovascular Sciences. Publicado em: 2022
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4. The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population
ABSTRACT Objective: The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress, which is one of the main pathways related to chronic
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. Association of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals
Abstract Introduction Studies have shown that the loss of the FOXO3 transcriptional function is involved in the pathophysiology of some chronic erythroid disorders, including beta-thalassemia (β-thal). Therefore, the single nucleotide polymorphism (SNP) rs3800231 (35-2764A > G) could contribute to alterations in its transcriptional activity, acting as a mo
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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6. Association of methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms (C677T and A1298C) with thyroid dysfunction: A meta-analysis and trial sequential analysis
ABSTRACT Recent studies have shown that two common methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms (C677T and A1298C) might correlate with thyroid dysfunction, but the results remain inconsistent. We carried out a meta-analysis aiming to assess the relationship of both polymorphisms with thyroid dysfunction. The PubMed, EMBASE, CNKI (China N
Archives of Endocrinology and Metabolism. Publicado em: 2022
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7. Corrigendum on “IL-4-C-590T locus polymorphism and susceptibility to asthma in children: a meta-analysis”
Jornal de Pediatria. Publicado em: 2022
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8. Cannabinoid receptor gene polymorphisms and cognitive performance in patients with schizophrenia and controls
Objective: To test the hypothesis that genetic variations of cannabinoid receptors contribute to the pathophysiology of cognitive deficits in schizophrenia. Methods: In this genetic association case-control study, cannabinoid receptor polymorphisms CNR1 rs12720071 and CNR2 rs2229579 were tested for association with neurocognitive performance in 69 patients
Brazilian Journal of Psychiatry. Publicado em: 2022
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9. Interleukin-17A in Egyptian leprosy patients: a clinical, genetic, and biochemical study
Abstract Background: Leprosy represents a long-term communicable disease resulting from Mycobacterium leprae infection. IL-17A is one of the pro-inflammatory cytokines that protects humans against many fungal and bacterial pathogens. Objective: To investigate IL-17A (rs2275913) gene polymorphism and its circulating level in leprosy patients, and to correla
Anais Brasileiros de Dermatologia. Publicado em: 2022
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10. Link between obsessive-compulsive disorder and polymorphisms in HDAC genes
Objective: Recently, epigenetic mechanisms related to histone modifications including histone deacetylation (HDAC) have been emphasized in psychiatric diseases. Few studies have investigated the relationship of HDAC gene variations to psychiatric diseases, but these gene variations have never been studied in obsessive-compulsive disorder (OCD). The present c
Brazilian Journal of Psychiatry. Publicado em: 2022
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11. RESISTIN GENE POLYMORPHISM AND NONALCOHOLIC FATTY LIVER DISEASE RISK
RESUMO Contexto: A doença hepática gordurosa não alcoólica (DHGNA) é uma doença hepática crônica e um dos principais problemas de saúde global em que a gordura hepática ultrapassa 5% dos hepatócitos sem as causas secundárias de acúmulo lipídico ou consumo excessivo de álcool. Devido à ligação entre a DHGNA e resistência à insulina (IR) e
Arquivos de Gastroenterologia. Publicado em: 2022
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12. ABO blood group association and COVID-19. COVID-19 susceptibility and severity: a review
Abstract Introduction The SARS-CoV-2 pandemic has been affecting the health and economic, as well as social, life of the entire globe since the end of 2019. The virus causes COVID-19, with a wide range of symptoms among the infected individuals, from asymptomatic infection to mortality. This, along with a high infection rate, prompted efforts to investigate
Hematology, Transfusion and Cell Therapy. Publicado em: 2022