Abstract Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the ...
Se ha sugerido que el haplotipo rs3749474T/rs4864548A del gen CLOCK aumentaría el riesgo de obesidad, pero se desconoce el patrón de variabilidad poblacional de estos alelos y del haplotipo. El objetivo de este estudio es determinar el nivel de ligamiento entre los alelos de riesgo rs3749474T y rs48645...
Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their...
Introdução: o gene NELL1 codifica a proteína semelhante ao fator de crescimento epidérmico (do inglês Epidermal Growth factor (EGF)-like). GWASs e estudos de associação com genes candidatos têm sido utilizados para estabelecer a conexão entre polimorfismos de nucleotídeo único (SNP) no NEL...
INTRODUCTION: The frequency of the premutation alleles of the FMR1 gene varies from 1:100 to 1:260 Israeli, Canadian, Finnish and American women, but it is unknown in Brazil. Premutation carriers may have reduced reproductive age and are at risk of transmitting the expanded allele to their offspring, and...
ABSTRACT Introduction The pro-inflammatory immune response underlies severe cases of COVID-19. Antigens of the Duffy blood group systems are receptors for pro-inflammation chemokines. The ACKR1 c.-67T>C gene variation silences the expression of Duffy antigens on erythrocytes and individuals presentin...
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...
Aldehído Reductasa/genética,
Alelos,
Estudios de Casos y Controles,
Diabetes Mellitus Tipo 2/complicaciones,
Diabetes Mellitus Tipo 2/genética,
Nefropatías Diabéticas/complicaciones,
Nefropatías Diabéticas/genética,
Frecuencia de los Genes,
Predisposición Genética a la Enfermedad,
Genotipo,
Polimorfismo de Nucleótido Simple
Noro, Fabio;
Alves-Leon, Soniza Vieira;
Fontes-Dantas, Fabricia Lima;
Valle Bahia, Paulo Roberto;
Andreiuolo, Rodrigo Ferrone;
Rueda Lopes, Fernanda Cristina;
Pereira, Valeria Coelho Santa Rita;
Abi-Haila, Livia de Almeida Afonso;
Coutinho, Renan Amaral;
Araujo, Amanda Dutra de;
Marchiori, Edson.
ABSTRACT Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retros...
Alelos,
Frecuencia de los Genes,
Genes MHC Clase II,
Predisposición Genética a la Enfermedad,
Cadenas alfa de HLA-DQ/genética,
Cadenas beta de HLA-DQ,
Cadenas HLA-DRB1/genética,
Imagen por Resonancia Magnética,
Esclerosis Múltiple/diagnóstico por imagen,
Esclerosis Múltiple/genética,
Estudios Retrospectivos
ABSTRACT Objective: As studies have reported the involvement of angiopoietin-2 (ANGPT-2) in the pathogenesis of diabetic retinopathy (DR), the aim of this study was to investigate the association between the ANGPT-2 rs2442598 polymorphism and DR. Materials and methods: This case-control study comprised...
SUMMARY OBJECTIVE The aim of this study was to investigate whether TCF7L2 gene mutation rs7903146 is in association with polycystic ovary syndrome (PCOS). METHODS A total of 44 PCOS and 48 control participants were recruited for this study. After DNA extraction from peripheral blood, quantitative PCR m...
