The -1195A>G polymorphism in Ciclooxygenase-2 gene is associated with lower risk of endometriosis.

OBJECTIVES: This study aimed to evaluate the potential role of the PTGS2 single nucleotide polymorphisms (SNPs) -1195 A>G and +8473 T>C in endometriosis' development, and characterizing their association with the prognostic features of the disease. STUDY DESIGN: DNA from 254 women with endometriosis and 267 controls, recruited from two reference hospitals from the Brazilian public health system, were genotyped using TaqMan allelic discrimination assays. The association between SNPs and endometriosis features was evaluated by multivariate logistic regression, using the adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI). RESULTS AND CONCLUSION: There were significant differences between cases and controls regarding age (P < 0.001), body mass index (BMI) (P = 0.001), educational level (P < 0.001), physical activity (P = 0.003), smoking status (P < 0.001), contraception use (P = 0.02), family history of endometriosis (P = 0.002) and all symptoms (P < 0.001). The distribution of -1195 A > G was statistically different between the groups, suggesting a lower risk of developing the disease for the carriers of the -1195 GG genotype (OR = 0.19; 95% CI = 0.04 - 0.93). No differences were found for the +8473 T>C between the two groups and neither in prognostic features of the disease for both PTGS2 SNPs. In conclusion, PTGS2 -1195A>G SNP was negatively associated with development of endometriosis and the two groups were statistically different regarding age, BMI, educational level, physical activity, smoking status, contraception use, history of endometriosis and all endometriosis symptoms.

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes.

The aim of the study was to investigate whether genetic variants in VEGF and KDR genes can be correlated with susceptibility of tendinopathy in volleyball athletes. This study was conducted at the Brazilian Volleyball Federation, and comprised 179 volleyball athletes: 88 had a confirmed diagnosis of tendinopathy (cases), whereas 91 had no evidence of the disease (controls). The VEGF (-2578C>A, -460T>C and +936C>T) and KDR (-604C>T, 1192G>A and 1719T>A) polymorphisms were determined by TaqMan real-time polymerase chain reaction. The odds ratio (OR) with their 95% confidence intervals (CI) were calculated using an unconditional logistic regression model. The evaluation of demographic and clinical characteristics revealed the athlete age (P < 0.001), years of practice in volleyball (P < 0.001) and presence of pain (P = 0.001) were risk factors for tendinopathy. KDR 1192 GA and GA + AA genotypes were associated with lower risk of tendinopathy (OR: 0.41, 95% CI: 0.19-0.88 and OR: 0.47, 95% CI: 0.23-0.98, respectively). The KDR (-604C>T, 1192G>A and 1719T>A) haplotypes CGA and CAT were associated with decreased tendinopathy risk (OR: 0.46, 95% CI: 0.21-0.99 and OR: 0.23, 95% CI: 0.07-0.76, respectively). With regards to pain, traumatic lesion and away from training due to injury, VEGF and KDR polymorphisms were not associated with clinical symptoms complaints. The present results provide evidence that the KDR polymorphisms were associated with development of tendinopathy, and can contribute to identify new therapeutic targets or personalized training programs to avoid tendinopathy development in athletes.