The Influence of Vitamin D Receptor Gene Polymorphisms in Spondyloarthritis.

Spondyloarthritis (SpA) is an inflammatory rheumatic disease related to low bone mineral density. Because vitamin D plays an important role in bone metabolism and immune system modulation, the aim of this study was to evaluate the influence of polymorphisms in vitamin D receptor genes () in the development of SpA. In this case-control study, a total of 244 patients with SpA and 197 individuals with no SpA were included.

Association of functional polymorphisms with cancer and cardiovascular disease: a meta-analysis.

Introduction: Interleukin-16 (IL-16) is a chemotactic cytokine that is found to increase in Cancer and cardiovascular diseases (CVD). Single nucleotide polymorphisms (SNPs) in were associated with diseases. Thus, we conducted a systematic review and meta-analysis to evaluate possible associations between rs4778889, rs11556218, rs4072111, and rs1131445 SNPs and the risk for cancer or CVD.

Influence of inflammasome NLRP3, and IL1B and IL2 gene polymorphisms in periodontitis susceptibility.

The pathogenesis of periodontitis (PD) involves several molecules of the immune system that interact in a network to eliminate the periodontopathogens, yet, they contribute to periodontal tissue destruction. The different mechanisms that lead to periodontal tissue damage are not clear. Despite this, immune response genes have been related to the development of PD previously, such as those involved in inflammasomes which are multiprotein complexes and cytokines including Interleukin-1.

The Influence of , , , and Polymorphisms in Periodontitis: A Case-Control Study.

The pathogenesis of periodontitis involves a complex interaction between the microbial challenge and the host immune response. The individual immunoinflammatory response has a great contribution in the pathogenesis of the disease and becomes a trigger in the process of bone remodeling which is a characteristic of the disease. Thus, the aim of this study was to evaluate the influence of the A896G (rs4986790), C1196T (rs4986791), C-260T (rs2569190), (, rs2277438), and ( C163T, rs3102735) polymorphisms in periodontitis.

Polymorphism and Periodontitis Susceptibility, Regardless of , , and Smoking Habits.

Genetic variations contribute to the susceptibility in the development of periodontitis. The aim of this study was to investigate the influence of , , and polymorphisms in the chronic periodontitis. This case-control study involved 381 individuals matched by gender and age.

Killer-cell immunoglobulin-like receptors associated with polycystic ovary syndrome.

Unlabelled: Polycystic ovary syndrome (PCOS) affects the endocrine system and is associated with low-grade inflammation. Natural killer (NK) cells are involved in the defense of the female reproductive tract, folliculogenesis, ovulation and the menstrual cycle. The killer-cell immunoglobulin-like receptors (KIR) on the surface of NK cells modulate the activation and function of these cells after interacting with human leukocyte antigen (HLA) class I ligands.

KIR and HLA ligands demonstrate genetic inheritance diversity in Japanese descendants from Paraná, Brazil.

In order to investigate killer immunoglobulin-like receptors (KIR) and their ligands, human leukocyte antigen (HLA), diversity in the Brazilian population influenced by migrations, unrelated Brazilian Japanese descendants were selected and genotyped for the KIR genes and HLA class I allele groups. Genetic heterogeneity in Brazil Paraná Japanese was observed for KIR genes, whose frequency distributions demonstrated similarity with mixed Brazilian populations and with the Japanese population, suggesting gene flow. The data contributed to the identification of the genetic constitution of the Brazilian population influenced by immigrations and two new genotypes were defined.

Cytokine gene polymorphisms in populations from Parana, Southern Brazil.

In this study, were genotyped 22 single nucleotide polymorphisms (SNPs) in 13 genes that encode the pro-inflammatory (IL-1α, IL-1β, IL-1R, IL-4Rα, IL-12, IFN-γ, TNF-α, and IL-2) and anti-inflammatory (IL-1RA, TGF-β, IL-4, IL-6 and IL-10) cytokines of 350 individuals by PCR-SSP (polymerase chain reaction - sequence specific primer). A total of 473 individuals were genotyped for IL17A and IL17F genes by PCR-RFLP (restriction fragment length polymorphism). The sample consisted of healthy and unrelated subjects from a mixed population from Parana state, in the South region of Brazil.

Polymorphisms of Cytokine Genes and Polycystic Ovary Syndrome: A Review.

Background: Polycystic ovary syndrome (PCOS) is the endocrinopathy that affects women in their reproductive age. The physiopathology involves multifactorial mechanisms, including cytokine gene regulation.

Methods: The review was conducted in the database PubMed, with articles published between 2005 and 2015.

Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients.

The classical chromosome Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of disorders that share clinical, hematological, and histological features. Proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) are elevated in patients with MPN. The aim of this study was to verify the association between the polymorphisms of TNF gene (-308G/A and -238 G/A) in BCR-ABL-negative MPN in our population.

Genetics factors associated with myelodysplastic syndromes.

The myelodysplastic syndromes (MDS) are a clinically and cytogenetically heterogeneous group of clonal diseases. Clonal chromosomal abnormalities are observed in 30-50% of patients with MDS. The deletions are among the most common alterations, and often involve the long arms of chromosomes 5, 7, 8, 13, and 20 and the short arms of chromosomes 12 and 17.

Importance of immune response genes in hemophilia A.

Hemophilia A is a disease caused by a deficiency of coagulation factor VIII resulting from genetic inheritance linked to chromosome X. One treatment option is the administration of plasma or recombinant FVIII. However, some patients develop inhibitors or antibodies against this factor.