RESUMO
Background: Atopic dermatitis is an inflammatory skin disease in which both genetic and environmental factors interact to determine the susceptibility and severity of the disease. Objective: The aim of this study was to determine the association between atopic dermatitis and IL-10 and TGF-Beta1 gene polymorphisms. Methods: The allele and genotype frequencies of genes encoding for IL-10 and TGF-Beta1 were investigated in 89 patients with atopic dermatitis in comparison with 138 in the control group using the PCR-SSP method. Results: A significant increase was found in the frequency of the TGF-Beta1 codon 10/C allele among patients (p < 0.001, OR = 6.77), whereas a significant decrease was observed in the frequency of the T allele at the same position (p < 0.001, OR = 0.14). The frequency of the TGF-Beta1 codon 25/G allele in the control group was significantly higher than among patients (p < 0.001, OR = 0.08). A significant positive correlation was seen between CC (p < 0.001, OR = 15.10) and CG (p < 0.001) genotypes and AD at codons 10 and 25, respectively. The most frequent haplotypes among patients was TGF-Beta1 CG which was significantly higher than in the control subjects (50% in patients vs. 39.9% in controls, p = 0.042). A significant increase was found in the frequency of TGF-Beta CC (36% in patients vs. 7.6% in controls, p < 0.001) and TC (14% in patients vs. 0% in controls, p < 0.001) haplotypes among patients compared to controls. By contrast, the TGF-Beta1 TG haplotype was significantly lower in patients than controls (0% in patients vs. 52.5% in controls, p < 0.001). There were no significant differences in the frequency of alleles, genotypes and haplotypes of the IL-10 gene. Conclusions: We found a strong association between the polymorphisms of the TGF-Beta1 gene at codon 10 and codon 25 positions and atopic dermatitis (AU)
No disponible
Assuntos
Humanos , Criança , Polimorfismo de Nucleotídeo Único/imunologia , Dermatite Atópica/imunologia , Interleucina-10/imunologia , Fator de Crescimento Transformador beta1/imunologia , Dermatite Atópica/genética , Predisposição Genética para Doença , Índice de Gravidade de Doença , Técnicas de Genotipagem , Haplótipos/imunologia , Irã (Geográfico)/epidemiologiaRESUMO
BACKGROUND: Atopic dermatitis is an inflammatory skin disease in which both genetic and environmental factors interact to determine the susceptibility and severity of the disease. OBJECTIVE: The aim of this study was to determine the association between atopic dermatitis and IL-10 and TGF-ß1 gene polymorphisms. METHODS: The allele and genotype frequencies of genes encoding for IL-10 and TGF-ß1 were investigated in 89 patients with atopic dermatitis in comparison with 138 in the control group using the PCR-SSP method. RESULTS: A significant increase was found in the frequency of the TGF-ß1 codon 10/C allele among patients (p<0.001, OR=6.77), whereas a significant decrease was observed in the frequency of the T allele at the same position (p<0.001, OR=0.14). The frequency of the TGF-ß1 codon 25/G allele in the control group was significantly higher than among patients (p<0.001, OR=0.08). A significant positive correlation was seen between CC (p<0.001, OR=15.10) and CG (p<0.001) genotypes and AD at codons 10 and 25, respectively. The most frequent haplotypes among patients was TGF-ß1 CG which was significantly higher than in the control subjects (50% in patients vs. 39.9% in controls, p=0.042). A significant increase was found in the frequency of TGF-ß CC (36% in patients vs. 7.6% in controls, p<0.001) and TC (14% in patients vs. 0% in controls, p<0.001) haplotypes among patients compared to controls. By contrast, the TGF-ß1 TG haplotype was significantly lower in patients than controls (0% in patients vs. 52.5% in controls, p<0.001). There were no significant differences in the frequency of alleles, genotypes and haplotypes of the IL-10 gene. CONCLUSIONS: We found a strong association between the polymorphisms of the TGF-ß1 gene at codon 10 and codon 25 positions and atopic dermatitis.
Assuntos
Dermatite Atópica/genética , Interleucina-10/genética , Fator de Crescimento Transformador beta1/genética , Criança , Pré-Escolar , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Irã (Geográfico) , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: X-linked lymphoproliferative disease (XLP) is an often fatal inherited immunodeficiency disorder characterised by fulminant infectious mononucleosis, acquired haemophagocytic lymphohistiocytosis, dysgammaglobulinaemia and malignant lymphoma. Given the paucity of data on the genetic stratification of XLP gene mutations in paediatric patients diagnosed with B-cell lymphoma, we sought to determine the existence of such association in the present study. METHODS: We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma. RESULTS: Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients. CONCLUSIONS: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early finding
No disponible
Assuntos
Humanos , Masculino , Criança , Adolescente , Pré-Escolar , Adulto Jovem , Linfoma de Células B/patologia , Linfoma não Hodgkin/genética , Transtornos Linfoproliferativos/genética , Infecções por Vírus Epstein-Barr/genética , Mutação/genética , Herpesvirus Humano 4/imunologia , Peptídeos e Proteínas de Sinalização Intracelular/genética , Análise Mutacional de DNA , Linfoma de Células B/metabolismo , Predisposição Genética para Doença , Irã (Geográfico) , Estudos de Associação GenéticaRESUMO
BACKGROUND: X-linked lymphoproliferative disease (XLP) is an often fatal inherited immunodeficiency disorder characterised by fulminant infectious mononucleosis, acquired haemophagocytic lymphohistiocytosis, dysgammaglobulinaemia and malignant lymphoma. Given the paucity of data on the genetic stratification of XLP gene mutations in paediatric patients diagnosed with B-cell lymphoma, we sought to determine the existence of such association in the present study. METHODS: We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma. RESULTS: Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients. CONCLUSIONS: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early findings.
