RESUMO
Behçet's disease (BD) is a chronic immune-mediated systemic disease, characterized by oral and genital lesions and ocular inflammation. Several cytokine genes may play crucial roles in host susceptibility to BD, because the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the interleukin (IL)-2 gene polymorphisms with the susceptibility to BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD and 76 healthy control subjects. Polymorphisms of IL-2 gene at position -330 and +166 were determined using the polymerase chain reaction with sequence-specific primers. In the patients with BD, there was a significantly increased frequency of IL-2 -330 GT genotype. Interestingly, we demonstrated that the frequencies of IL-2 -330 GT and IL-2 + 166 GG genotypes were increased in BD patients with ocular involvement, whilst IL-2 -330 TT genotype was significantly decreased. Also, analysis of allele frequency demonstrated that the presence of G allele at position +166 of IL-2 seems to be a risk factor for ocular involvement. These results reveal that IL-2 -330 GT genotype may be a susceptibility factor for BD, whereas IL-2 -330 TT genotype seems to display a protective association with BD. Additionally, IL-2 gene polymorphisms might be associated with ocular involvement in BD.
Assuntos
Síndrome de Behçet/genética , Olho/imunologia , Interleucina-2/genética , DNA/genética , Olho/patologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Inflamação/imunologia , Linfócitos/imunologia , Masculino , Neutrófilos/imunologia , Polimorfismo de Nucleotídeo Único , TurquiaRESUMO
Several cytokine genes may play crucial roles in host susceptibility to Behçet's Disease (BD), since the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the IL-1 cluster gene polymorphisms with the development of BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD, and 77 healthy control subjects. All genotyping (IL-1α, IL-1ß, IL-1R and IL-1Ra) experiments were performed using sequence specific primers PCR (PCR-SSP). When compared to the healthy controls, the frequencies of IL-1Ra IL-1α and IL-1R gene polymorphisms were not significantly different in BD patients. The frequency of IL-1ß-511 TT genotype was higher in the BD group in comparison to the control group. Interestingly, we demonstrated that IL-1 ß +3962 gene polymorphism seems to be associated with the presence of Erythema nodosum in BD patients. Our data suggest that polymorphisms in IL-1ß gene may affect host susceptibility to BD. In order to confirm the biological significance of our results, further studies should be performed in a large-scale study and/or in different ethnic groups.
Assuntos
Síndrome de Behçet/genética , Interleucina-1/genética , Família Multigênica/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , TurquiaRESUMO
Several cytokine genes may play crucial roles in host susceptibility to Behçet's Disease (BD), because the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the IL-4 and IL-4Rα gene polymorphisms with the susceptibility to BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD and 76 healthy control subjects. All genotyping (IL-4 and IL-4Rα) experiments were performed using PCR sequence-specific primers. When compared with the healthy controls, the frequency of IL-4 -1098 TG and -590 CT genotypes was higher in the patients with BD. Analysis of allele frequencies showed that IL-4 -1098 G and IL-4 -590 T alleles were more common in the patients with BD when compared with healthy controls. Also, IL-4 TTC and haplotypes were found to confer BD. Interestingly, we demonstrated that IL-4Rα gene polymorphism seems to be associated with the Pathergy test positivity in patients with BD. Our data suggest that IL-4 gene promoter polymorphisms may affect susceptibility to BD and increase risk of developing the disease. However, in order to confirm and assess the association of IL-4 and IL-4Rα gene polymorphisms with the BD, large cohort studies are needed.
Assuntos
Síndrome de Behçet/genética , Síndrome de Behçet/imunologia , Interleucina-4/genética , Adulto , Idade de Início , Síndrome de Behçet/epidemiologia , Distribuição de Qui-Quadrado , DNA/química , DNA/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Interleucina-4/imunologia , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Prevalência , Receptores de Interleucina-4/genética , Receptores de Interleucina-4/imunologia , Turquia/epidemiologiaRESUMO
The association of the cytokine gene polymorphisms with the development of Behçet's Disease (BD) was investigated in this study. DNA samples were obtained from a Turkish population of 97 unrelated patients with BD, and 127 unrelated healthy control subjects.All genotyping (IL-6, IL10, IFN-gamma, TGF-Beta1 and TNF-alpha) experiments were performed using sequence-specific primers PCR. The frequency of TGF-Beta1 codon 25 GG genotype was found significantly lower in BD patients compared to healthy control subjects. The IL-10 -1082 GA genotype was more frequent whereas the AA genotype was less common in the BD group compared to the control group. The association between clinial findings and cytokine gene polymorphisms was further investigated in the patients with BD. The frequency of IFN-gamma AA genotype was lower in the patients with genital ulcer. Additionally, it was found that the frequency of IL-6 -174 GG genotype was lower in the patients with Pathergy positivity. These results suggest that TGF-Beta1 and IL-10 gene polymorphisms may affect host susceptibility to BD. Also, to confirm the biological significance of our results, further studies should be performed on other population groups and in large number of cases.
