This result strengthened the importance of IL6 genotypes in the pathogenesis of RSA of unknown cause in the south Brazilian population.

No abstract

Our results indicate that RM could be associated with NK cell activation mediated by a profile rich in activating KIR genes.

A high proportion of human recurrent spontaneous abortions (RSA) remain unexplained. The possible association between RSA and different genetic polymorphisms within the human leucocyte antigen system (HLA system, the human major histocompatibility complex) has been investigated with conflicting results since many decades. Here, we describe a case-control study with 136 Southern Brazilian women of predominantly European ancestry (75 control and 61 cases with unexplained RSA). We investigated the relationship between unexplained RSA and alleles and genotypes from two classical loci of the HLA: HLA-DRB1 and HLA-DQB1, as well as three loci related to cytokine production and their serum levels: TNFA (-308G>A), IL10 (-1082G>A, -819T>C, -592A>C) and IFNG (+874A>T). Genotyping was performed by an allele-specific PCR method. While all results concerning cytokine-related genes turned out to be negative, we found the genotype HLA-DQB1*02:02, 03:01 to be significantly decreased and the allele HLA-DRB1*11:04 to be significantly increased among patients.

Our objective was to investigate the relationship between IFNG (+874 T/A) polymorphism and cervical intraepithelial neoplasia (CIN) in a population of Brazilian women. Ninety-six women, CIN II (48) and CIN III (48) and 50 normal controls, were enrolled in this study. DNA was extracted from blood samples by the salting out method and polymerase chain reaction (PCR) amplified. IFNG genotyping was performed by the PCR-Sequence Specific Primer method, using the Cytokine Genotyping Tray. There were no differences in genotypic frequencies between CIN patients and controls. However, after sample stratification into CIN II and III, a higher frequency of the AA genotype in CIN II versus control group (P = 0.05) was observed. When the comparison was performed between CIN groups, a higher frequency of the AA genotype in CIN II versus CIN III (P = 0.05) was observed. This study suggests that IFNG +874 T/A polymorphism responsible for the genetic differences in interferon (IFN)-gamma production may influence the human papillomavirus (HPV) clearance and cervical malignant progression. Further understanding of the role of this cytokine may contribute to the development of a biomarker of HPV infection and resulting in the improvement of squamous intraepithelial lesions treatment.