RESUMO Objetivo: Investigar a associação do Polimorfismo de nucleotídeo único rs35934224 no gene TXNRD2 com o glaucoma primário de ângulo aberto em uma população brasileira. Métodos: Tratou-se de um estudo transversal para verificar a associação entre o rs35934224 do TXNRD2 (tioredoxina redutase 2) e o glaucoma primário de ângulo aberto em uma população da região nordeste do Brasil. Foram incluídos 184 indivíduos: 94 casos com glaucoma primário de ângulo aberto (45 homens e 49 mulheres) e 94 controles (40 homens e 54 mulheres) do Instituto de Olhos de Recife. Resultados: A idade média foi de 68,85 anos para os pacientes com glaucoma e 68,55 anos para os controles. O DNA genômico foi isolado usando kits comerciais disponíveis e a detecção do polimorfismo de nucleotídeo único foi realizada por PCR em tempo real usando sondas TaqMan. A população estudada estava em equilíbrio de Hardy-Weinberg. O genótipo CT foi associado à proteção ao glaucoma primário de ângulo aberto (p=0,022). Conclusão: Nossos dados sugerem uma associação entre o polimorfismo do gene TXNRD2 (rs35934224) e o glaucoma primário de ângulo aberto em uma população brasileira. Este é o primeiro estudo a investigar esse polimorfismo de nucleotídeo único em indivíduos com glaucoma primário de ângulo aberto latino-americanos.

ABSTRACT Purpose: To investigate the association of the single-nucleotide polymorphism rs35934224 in the TXNRD2 gene with primary open-angle glaucoma in a Brazilian population. Methods: This was a cross-sectional study conducted to verify the association between the rs35934224 TXNRD2 (thioredoxin reductase 2) and primary open-angle glaucoma in a population from the Northeast region of Brazil. A total of 184 individuals were enrolled, including 94 with primary open-angle glaucoma (45 men and 49 women) and 94 controls (40 men and 54 women) from the Recife Eye Institute. Results: The mean age was 68.85 years for the patients with glaucoma and 68.55 years for the controls. Genomic DNA was isolated using commercially available kits, and single-nucleotide polymorphism was detected with real-time polymerase chain reaction using TaqMan probes. The studied population was in Hardy-Weinberg equilibrium. The CT genotype was associated with protection against primary open-angle glaucoma (p=0.022). Conclusion: Our data suggest an association between TXNRD2 gene polymorphism (rs35934224) with primary open-angle glaucoma in an admixed Brazilian po pulation. This is the first study to investigate this single-nucleo tide polymorphism in Latin American individuals with primary open-angle glaucoma.

Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.

Background: Infectious complications represent the main cause of morbidity and mortality in chronic lymphocytic leukemia. It has been reported that polymorphisms of the mannosebinding lectin 2 (MBL2) genes are correlated with MBL protein serum levels and, consequently, are associated with the development of infectious diseases. Objective: The purpose of this study was to investigate the possible association between MBL2 gene polymorphisms and risk of infection in chronic lymphocytic leukemia patients. Methods: Peripheral blood samples from 116 chronic lymphocytic leukemia patients were collected; after genomic DNA extraction, real time polymerase chain reaction was used to determine the polymorphisms of the promoter region and exon 1 of the MBL2 gene. Results: A high frequency of Binet stage A (p-value = 0.005) and absence of splenomegaly (p-value = 0.002) were observed in patients with no infection; however, variant alleles/ genotypes and haplotypes of this gene had no impact on the risk of infection. Conclusion: To the authors' knowledge, this is the first study describing the association between MBL2 polymorphisms and infectious disease in chronic lymphocytic leukemia. Although it was not possible to demonstrate any influence of MBL2 polymorphisms as a genetic modulator of infection in chronic lymphocytic leukemia, the authors believe that the present data are clinically relevant and provide the basis for future studies.