The pathogenesis of systemic lupus erythematosus (SLE) is complex, with several susceptibility genes and environmental factors involved in its development and clinical manifestation. Currently, there is a great amount of interest in the identification of biomarkers, as cytokines, that can quantify the susceptibility of SLE, the risk of future organ involvement, and association of their changes with disease activity. To investigate the associations between polymorphisms in the gene of Interferon gamma (IFN-γ) and in the promoter of the Interleukin-10 (IL-10) gene and SLE. The polymorphisms +874 T/A (rs2430561) in the IFN-γ gene and -1082G/A (rs1800896) in the IL-10 promoter were determined in 99 SLE patients and 100 healthy controls among women Brazilian using the refractory mutation system polymerase chain reaction method. Disease activity was assessed using the SLE activity index. There were significant differences in the distribution of the genotype T/A in IFN-γ gene polymorphism (+874) (χ (2) = 7.168; P = 0.0074) and the genotype G/A in IL-10 promoter polymorphism (-1082) (χ (2) = 4.654; P = 0.0310) between the SLE and control groups. However, no association was observed between clinical features and the polymorphisms studied. This study presents preliminary evidence for association between IL-10 and IFN-γ polymorphism and SLE susceptibility, but not with clinical features in a Northeast population from Brazil.
Polymorphisms in chemokine receptors play an important role in the progression of
cervical intraepithelial neoplasia (CIN) to cervical cancer (CC). Our study examined
the association of CCR2-64I (rs1799864) andCCR5-Δ32
(rs333) polymorphisms with susceptibility to develop cervical lesion (CIN and CC) in
a Brazilian population. The genotyping of 139 women with cervical lesions and 151
women without cervical lesions for the CCR2-64I and
CCR5-Δ32 polymorphisms were performed using polymerase chain
reaction-restriction fragment length polymorphism. The individuals carrying
heterozygous or homozygous genotypes (GA+AA) for CCR2-64I
polymorphisms seem to be at lower risk for cervical lesion [odds ratio (OR) = 0.37, p
= 0.0008)]. The same was observed for the A allele (OR = 0.39, p = 0.0002), while no
association was detected (p > 0.05) with CCR5-Δ32 polymorphism.
Regarding the human papillomavirus (HPV) type, patients carrying the
CCR2-64Ipolymorphism were protected against infection by HPV type
16 (OR = 0.35, p = 0.0184). In summary, our study showed a protective effect
ofCCR2-64I rs1799864 polymorphism against the development of
cervical lesions (CIN and CC) and in the susceptibility of HPV 16 infection.
This study presents evidence for an association between the MTR A2756G polymorphism and retinoblastoma susceptibility in a Northeast population from Brazil.
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