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- Apoe isoforms in patients with psoriasisPublication . Ferreira, J.C.P.; Torres, T.; Carvalho, C.A.; Bettencourt, A.; Leal, B.; Vasconcelos, C.; Costa, P.P.; Selores, M.; Silva, B.M.Introduction: Psoriasis is a chronic inflammatory skin disease affecting 2–3% of the world population. Patients with psoriasis (Ps) have higher prevalence of lipid disorders when compared to unaffected individuals. These patients, especially those with severe and prolonged disease, have an increased morbidity and mortality from cardiovascular events. Apolipoprotein E (ApoE), a protein involved in lipid metabolism, cholesterol and phospholipid transport, has functionally relevant gene variants. It has been described that the e4 allele may increase the risk to develop atherosclerosis, and the e2 allele has been associated with hyperlipoproteinemia type III. An increased risk of psoriasis among persons with these two alleles has also been reported. Nevertheless, the role of ApoE in Psoriasis remains controversial. Objectives: The aim of this work was to investigate the relationship between APOE-e2/e3/e4 variants and psoriasis in a Portuguese population. Materials and Methods: A cohort of 178 unrelated (74 females, 104 males) severe psoriatic patients [according to the Psoriasis Area and Severity Index (PASI)] from Centro Hospitalar do Porto/Hospital de Santo Ant onio and 285 ethnically-matched healthy controls were studied. Genotyping of APOE was performed using a Polymerase chain reaction restriction fragment-length polymorphism (PCR-RFLP) assay. Results: The frequency of the e4 allele was significantly higher in patients than in controls [(11.5% vs. 7.6%), p = 0.044, OR=1.57 (1.01–2.45)]. Conclusion: The ApoE e4 isoform could be a risk factor for psoriatic disease in this population. Our result is in agreement with previous studies in a Spanish population that associated the e4 isoform with severe psoriasis. These results support the hypothesis that ApoE has a modulatory role in inflammatory conditions.
- IL-6 and TNF-alpha polymorphisms in portuguese psoriatic patientsPublication . Ferreira, J.P.; Torres, T.; Carvalho, C.; Bettencourt, A.; Leal, B.; Vasconcelos, C.; Costa, P.P.; Selores, M.; Silva, B.M.Introduction: Cytokines regulate the growth, function and differentiation of cells and help to steer immune response and inflammation. In this study we focused our attention in two proinflammatory cytokines: IL-6 and TNFa. It is known that their overexpression is responsible for initiation, maintenance and recurrence of skin lesions in psoriatic patients. Therefore, it is important to investigate genetic biomarkers with functional effects in the genes of those cytokines that could help to predict the severity of Psoriasis. Objectives: To investigate the hypothesis that allelic variants in IL-6 and TNF-a genes are a risk factor for the developing of severe Psoriasis. Materials and Methods: A cohort of 178 (74 females, 104 males) psoriatic patients with severe plaque type psoriasis [according to the Psoriasis Area and Severity Index (PASI)] and 206 healthy individuals were selected. Several polymorphisms in the IL-6 gene (rs1800795, rs1800796, rs2069827, rs2069840) and TNF-a (rs361525, rs1799964, rs1800629) promoter region were genotyped. SNP genotyping was performed using Mass Spectrometry (MassARRAY iPLEX–Sequenom). Results: We observed a lower frequency in the minor allele (C) of the TNFa rs1799964 SNP in psoriatic patients, compared with controls [(21.9% vs. 29.4%), p = 0.02, OR = 0.675 (0.49–0.94)]. The frequency of the CC genotype in patients was 3.93% while in the healthy control group it was 9.22% [(p = 0.04, OR = 0.403 (0.17–0.98)]. No statistical significant differences were found in the other polymorphisms. Conclusion: Our data suggest that the rs1799964 C allele could be a protective factor for developing severe psoriasis. These results were similar to the findings of Gallo et al (2012) in a Spanish population. The mechanism to explain this association remains elusive, given the lack of evidence of a functional association.