RESUMEN
HLA-A*01:454 and HLA-A*31:229, two novel HLA-A alleles detected during routine typing by next-generation sequencing.
Asunto(s)
Alelos , Exones , Antígenos HLA-A , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Humanos , Antígenos HLA-A/genética , Análisis de Secuencia de ADN/métodos , Antígeno HLA-A1/genética , Secuencia de BasesRESUMEN
Severe forms of dengue, such as dengue haemorrhagic fever (DHF) and dengue shock syndrome, are examples of a complex pathogenic mechanism in which the virus, environment and host immune response interact. The influence of the host's genetic predisposition to susceptibility or resistance to infectious diseases has been evidenced in several studies. The association of the human leukocyte antigen gene (HLA) class I alleles with DHF susceptibility or resistance has been reported in ethnically and geographically distinct populations. Due to these ethnic and viral strain differences, associations occur in each population, independently with a specific allele, which most likely explains the associations of several alleles with DHF. As the potential role of HLA alleles in the progression of DHF in Brazilian patients remains unknown, we then identified HLA-A alleles in 67 patients with dengue fever and 42 with DHF from Rio de Janeiro, Brazil, selected from 2002-2008 by the sequence-based typing technique. Statistical analysis revealed an association between the HLA-A*01 allele and DHF [odds ratio (OR) = 2.7, p = 0.01], while analysis of the HLA-A*31 allele (OR = 0.5, p = 0.11) suggested a potential protective role in DHF that should be further investigated. This study provides evidence that HLA class I alleles might be important risk factors for DHF in Brazilian patients.
Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Dengue Grave/genética , Predisposición Genética a la Enfermedad/genética , Antígeno HLA-A1/genética , Alelos , Brasil , Estudios de Casos y Controles , Factores de RiesgoRESUMEN
A participaçäo genética nas doenças auto-imunes torna-se cada vez mais evidente. A imunogenética compreende a análise de genes e seus produtos, localizados na regiäo 6p21, no braço curto do cromossomo 6, que também é conhecida como complexo principal de histocompatibilidade (CPH). Antígenos HLA de classe I, II e III säo altamente polimórficos. Um grande número de doenças dermatológicas está associado ao HLA. Essas associaçöes variam em diferentes populaçöes e grupos étnicos. A determinaçäo do HLA pode estar associada ao curso da doença, predileçäo anatômica podendo ser utilizado como subsídio para o diagnóstico. Entretanto, o papel patogênico do HLA na suscetibilidade ou resistência a determinadas doenças cutâneas permanece incerto. Nesta revisäo, discutem-se alguns aspectos do sistema HLA, o papel patogênico dos antígenos HLA e sua associaçäo com doenças dermatológicas.
Asunto(s)
Humanos , Genes MHC Clase I/inmunología , Antígeno HLA-A1 , Sistema Inmunológico , Enfermedades de la Piel/genética , Formación de Anticuerpos , Antígeno HLA-A1/clasificación , Antígeno HLA-A1/genética , Antígeno HLA-A1/metabolismo , Antígeno HLA-A1 , Enfermedades Autoinmunes , Susceptibilidad a Enfermedades , Polimorfismo GenéticoRESUMEN
The association between both HLA-A1 and B5 antigens and chronic forms of human schistosomiasis was studied in 64 patients and 26 normal controls from a southern Brazilian hospital. No apparent correlation between the chronic forms of the disease and the expression of those antigens was detected. However, the analysis of these date together with those observed on an Egyptian sample suggests that the presence of either of the antigens and the hepatomegalic forms of schistosomiasis is significant, without heterogeneity. Converseley, the association of histocompatibility antigens with splenogegaly is consistent and significant only for HLA-B5, but not HLA-A1