RESUMO
BACKGROUND AND AIMS: There is a link between genetics with metabolic balance and adiposity homeostasis on metabolic syndrome (MetS). Polymorphism in adipokine genes such as leptin and adiponectin may play an important role in its development. This study aimed to determine the association of the individual and general components of MetS with genetic alterations in LEP (rs7799039 and rs2167270) and ADIPOQ (rs1501299 and rs2241766) genes in the Mexican population. METHODS AND RESULTS: The polymorphisms of the LEP gene rs7799039 and rs2167270, together with rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) on 328 individuals (n = 131 MetS). The rs7799039 under the recessive inheritance model was found to be associated with increased risk of MetS (OR = 2.16, 95% CI = 1.06-4.37), dyslipidemia (OR = 7.97, 95% CI = 2.17-29.36), low HDL (OR = 7.01, 95% CI = 1.65-29.71) and hypertension (OR = 13.02, 95% CI = 1.76-96.44); the heterozygote demonstrate a protective effect on MetS (OR = 0.48, 95% CI = 0.28-0.88) and diabetes (OR = 0.09, 95% CI = 0.02-0.53) under the over the dominant model. Haplotype analysis showed linkage disequilibrium between the SNPs of ADIPOQ rs1501299/rs2241766, and their association as risk factors for low HDL and hypertension. CONCLUSION: The association of rs7799039 with the presence of MetS, suggests a risk factor for the development of dyslipidemia, as well as its heterozygous as a protective factor for DM. There is a linkage disequilibrium between the SNPs of ADIPOQ.
RESUMO
Prostate cancer (PCa) is one of the most common types of cancer in men. The aetiology of the disease is not well established, but it has been related to one of the main pathways of regulation of prostate proliferation, mediated by androgens. The androgen receptor (AR) gene encodes the androgen-receptor protein, which functions as a transactivation factor for steroid hormones. It has been proposed that the AR gene transcription levels are mediated by short tandem repeats corresponding to the CAG sequence. However, there are conflicting results in this relationship. We evaluated the expression levels of the AR gene and identified the number of CAG repeats (CAGn) in the Mexican population, establishing the relationship between expression levels and increase in the number of CAG repeats. We evaluated the expression levels of AR in tissue samples of PCa and benign prostate disease, such as benign prostatic hyperplasia, or prostatitis, to determine the difference in their expression levels. Our results showed a statistically insignificant underexpression of 0.64-fold decrease in AR levels of PCa patients compared to benign prostate disease patients (P = 0.623) and suggest that the number of CAGn was correlated with the relative expression of the AR gene (P = 0.009) and this correlation was positive, moderate, and proportional (ρ = 0.467) and no correlation was found between CAGn with other clinical features.