VDR, SOD-2, and CYP24A1 Gene Expression in Different Genotypes of BsmI SNP of the Vitamin D Receptor Gene in Individuals with Hypovitaminosis.

BACKGROUND: Hypovitaminosis D is a public health problem due to its implications for various diseases. Vitamin D has numerous functions, such as modulating the metabolism of cellular tissues, and it is expressed through the vitamin D receptor (VDR) gene that may influence gene expression modulation, which plays an important role in vitamin D metabolism. OBJECTIVE: To evaluate the effect of the genotypes of BsmI single nucleotide polymorphism (SNP) of the VDR gene on VDR, SOD2, and CYP24A1 gene expression in individuals with low serum vitamin D levels. METHODS: This was a cross-sectional analytical study. After signing the informed consent form, individuals were invited to participate and answered a structured questionnaire with identification data. Blood was collected for biochemical analysis, and vitamin D was measured by chemiluminescence; BsmI polymorphism was determined using real-time polymerase chain reaction (PCR) assays with TaqMan allelic discrimination, and gene expression was conducted by qRT-PCR using QuantiFast SYBR® Green PCR Master Mix. Data were analyzed using the SPSS 20.0 software, and differences were considered significant at p < 0.05. RESULTS: 98 individuals with vitamin D ≤ 20 ng/dL were evaluated, and the BsmI SNP of the VDR gene showed CYP24A1 overexpression and low SOD2 expression. CONCLUSION: BsmI SNP of the VDR gene can modulate the expression of the genes evaluated without interfering with serum levels.

The Val16Ala MnSOD gene polymorphism is associated with hypertension in self-declared black individuals.

Hypertension is the leading contributor to cardiovascular disease worldwide; the prevalence of hypertension is higher among black adults than other racial/ethnic groups. One of the cellular defense mechanisms against reactive oxygen species are the antioxidants, such as the enzyme superoxide dismutase (SOD). Therefore, this study aimed to analyze the influence of the SNP Val16Ala of the SOD2 gene on oxidative stress and hypertension in a community population of self-declared black individuals in southern Brazil. The 158 participants declared themselves black (black/brown) regarding their skin color, being 89 (56.3%) self-declared black and 69 (43.7%) brown. A real-time polymerase chain reaction determined the MnSOD Ala16Val polymorphism, and oxidative stress marker levels were significant, in addition to differences in the hypertensive group regarding the levels of carbonyl (p = .016), thiobarbituric acid reactive substances (p = .040), ischemia-modified albumin (p = .046), total antioxidant capacity (p = .011), and Nitric oxide metabolites (p = .029). The SOD Val/Val genotype was considered a risk factor regardless of the other variables for hypertension (p = .034). The Val16Ala polymorphism of the MnSOD gene presented an association with hypertension.

Association between carriers of the G allele of the + 45T> G variant of the ADIPOQ gene (rs 2241766) and the cardiometabolic profile in sickle cell trait.

AIMS: investigate the association between the +45T > G variant of the ADIPOQ gene and the metabolic syndrome (MS) in patients with sickle cell trait (SCT). 33 patients with SCT and 35 control group participated in the study. Lower levels of HDL and adiponectin were observed in patients with G allele and sickle cell trait. There were no differences between the prevalence of MS between the groups and there was no association between the +45T > G variant of the ADIPOQ gene and MS risk allele. MATERIALS AND METHODS: Participants with and without sickle cell anemia answered a questionnaire, performed anthropometric and laboratory analyzes. They were genotyped for the +45T > G variant of the ADIPOQ gene and evaluated for the presence or absence of metabolic syndrome. The study was approved by the Research Ethics Committee of UNIPAMPA (RS/Brazil). KEY FINDINGS: The GG + TG genetic model, it was associated with lower levels of adiponectin and HDL cholesterol in the SCT group. There was no association between the other studied markers and MS. SIGNIFICANCE: For the first time, an association was demonstrated between the G allele of the +45T > G variant of the ADIPOQ gene and a worse cardiometabolic profile (lower serum concentrations of adiponectin and HDL cholesterol) in patients with sickle cell trait.

Polymorphism eNOS Glu298Asp modulates the inflammatory response of human peripheral blood mononuclear cells.

INTRODUCTION: Nitric oxide is a gaseous radical produced by the nitric oxide endothelial synthase (eNOS) whose most studied physiological action is the vasodilation. However, it also acts in the defense of the organism through the formation of cytotoxic radicals, which can potentiate the inflammatory lesion of the cells. The Glu298Asp is a single nucleotide polymorphism (SNP) in the eNOS gene related to the risk of cardiovascular disease. Blacks present a higher prevalence of hypertension and cardiovascular mortality. Then, we aimed to evaluate the influence of Glu298Asp polymorphism on inflammatory response in vitro and gene expression in blacks. MATERIAL AND METHODS: Peripheral blood mononuclear cells (PBMC) from blacks with different Glu298Asp genotypes were treated with phytohemagglutinin (PHA), a mitogen and activator of T cells. Oxidative, inflammatory markers, and expression of inflammation genes were evaluated. RESULTS: The genotype frequencies were TT 6.7%; TG 29.3% and GG 64.0%. Activation of PBMCs with 125 µg of PHA modulated the expression of inflammatory genes and increased levels of inflammatory cytokines. The T allele showed increased susceptibility to inflammation (higher levels of interleukin 1, interleukin 6 and tumor necrosis factor alpha; p < 0.001). The G allele exhibited protection through higher levels of nitric oxide (p < 0.001) and fewer inflammatory cytokines. CONCLUSION: Despite methodological limitations related to in vitro assays, the whole of results suggested that Glu298Asp modulates inflammatory genes, the T allele is more susceptible to inflammation and the G allele is protective.

ADIPOQ + 45T≥G Polymorphism, Food Ingestion, and Metabolic Syndrome in Elderly Persons.

INTRODUCTION: The current nutritional transition process contributes further to accelerate the onset of metabolic disorders, as do a number of environmental factors that lead to the diagnosis of chronic diseases, as a diet of low nutritional value, is possibly related to the incidence of metabolic syndrome. In addition to these factors, metabolic syndrome may also be related to genetic factors, the ADIPOQ + 45T> G polymorphism has been associated with serum adiponectin levels, insulin sensitivity, and obesity, which affects adiponectin levels act as protective factor for cardiovascular disease. In this way, the present study aimed to analyze the possible association between the ADIPOQ + 45T> G gene polymorphism, usual diet and metabolic syndrome in the elderly. METHODS: We evaluated inflammatory and biochemical markers compared with older age groups (age 60 years) with and without metabolic syndrome. In addition to the anthropometric measurements of weight, height and waist circumference, the ADIPOQ + 45T> G gene polymorphism was determined by PCR- RFLP, and food consumption was investigated using a food frequency questionnaire. RESULTS: The study included 111 elderly individuals. Our main results show that there was a significant relationship between the habitual consumption of milk for the group that had metabolic syndrome (p < 0.05). HDL-c levels, glucose, triglycerides, diastolic blood pressure and weight, height and waist circumference had to be altered in patients with metabolic syndrome. There was an association between habitual dietary intake of white meat with haplotypes TG and GG. CONCLUSION: We conclude that the relationship between the habitual consumption of certain food groups and ADIPOQ indicates the need for further studies to develop a better understanding of this relationship; however, there was no association between the ADIPOQ + 45T> G gene polymorphism and metabolic syndrome in the group of elderly studied.