Eni Picchioni Bompeixe

A Case–Control Study in IL6 and TGFB1 Gene Polymorphisms and Recurrent Spontaneous Abortion in Southern Brazilian Patients

Problem:  A high proportion of recurrent spontaneous abortions (RSA) remains unexplained. Cytokine genotyping has been investigated. We studied the relationship between unexplained RSA, IL6 (−174 G→C) and TGFB1 (+869, T→C; +915, G→C) gene polymorphisms.

Activating killer cell immunoglobulin-like receptor genes' association with recurrent miscarriage.

Problem  Natural killer (NK) cells are regulated through NK cell receptors such as killer cell immunoglobulin‐like receptors (KIRs). KIRs are suspected of being involved in the causes of recurrent miscarriage (RM) as a higher proportion of activated NK cells were observed in women with RM when compared with that in controls. The aim of this study was to investigate if KIR genes coding for receptors known to have as ligands HLA class I molecules are correlated with RM.

ORIGINAL ARTICLE: Activating Killer Cell Immunoglobulin-Like Receptor Genes’ Association with Recurrent Miscarriage

Problem  Natural killer (NK) cells are regulated through NK cell receptors such as killer cell immunoglobulin‐like receptors (KIRs). KIRs are suspected of being involved in the causes of recurrent miscarriage (RM) as a higher proportion of activated NK cells were observed in women with RM when compared with that in controls. The aim of this study was to investigate if KIR genes coding for receptors known to have as ligands HLA class I molecules are correlated with RM.

IFNG (+874 T/A) Polymorphism and Cervical Intraepithelial Neoplasia in Brazilian Women

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.

HLA class II polymorphisms and recurrent spontaneous abortion in a Southern Brazilian cohort

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.

ORIGINAL ARTICLE: Activating Killer Cell Immunoglobulin-Like Receptor Genes’ Association with Recurrent Miscarriage: ACTIVATING KIR GENES AND RECURRENT MISCARRIAGE

Problem  Natural killer (NK) cells are regulated through NK cell receptors such as killer cell immunoglobulin‐like receptors (KIRs). KIRs are suspected of being involved in the causes of recurrent miscarriage (RM) as a higher proportion of activated NK cells were observed in women with RM when compared with that in controls. The aim of this study was to investigate if KIR genes coding for receptors known to have as ligands HLA class I molecules are correlated with RM.

Lack of association between parenchymal neurocysticercosis and HLA Class I and Class II antigens

A neurocisticercose, causada pelo cisticerco, a larva do cestoide Taenia solium, e a infeccao mais comum do sistema nervoso central e constitui importante problema de saude publica em muitos paises. A sua prevalencia na regiao de Curitiba, localizada no Estado do Parana, foi estimada em 9%, situando-se entre as mais elevadas do mundo. Os aspectos geneticos de suscetibilidade a neurocisticercose (NCC) ainda sao pouco conhecidos. Com o objetivo de investigar se genes do MHC influenciam a suscetibilidade individual a NCC, realizamos uma analise de associacao caso-controle. Cinquenta e dois pacientes caucasoides e 149 individuos-controle pareados foram tipados para antigenos dos locos HLA-A, B, C, DR e DQ. Todos os pacientes apresentavam tomografia computadorizada e sinais clinicos compativeis com NCC parenquimatosa. Imunofluorescencia indireta do liquido cefalo-raquidiano mostrou que 19 (37%) pacientes apresentavam anticorpos anti-cisticerco com titulos ³1:10. As frequencias de especificidades HLA no grupo total de pacientes e no subgrupo de pacientes que apresentaram anticorpos no liquor foram comparadas aquelas do grupo controle. Nenhuma diferenca significativa foi detectada. Esses resultados nao sustentam a hipotese de participacao dos genes HLA na suscetibilidade a neurocisticercose parenquimatosa.