Exercise training and DNA methylation profile in post-bariatric women: Results from an exploratory study.

Exercise training and bariatric surgery have been shown to independently modulate DNA methylation profile in clusters of genes related to metabolic and inflammatory pathways. This study aimed to investigate the effects of a 6-month exercise training program on DNA methylation profile in women who underwent bariatric surgery. In this exploratory, quasi-experimental study, we analyzed DNA methylation levels by array technology in eleven women who underwent Roux-en-Y Gastric Bypass and a 6-month, three-times-a-week, supervised exercise training program. Epigenome Wide Association Analysis showed 722 CpG sites with different methylation level equal to or greater than 5% (P < 0.01) after exercise training. Some of these CpGs sites were related to pathophysiological mechanisms of inflammation, specially Th17 cell differentiation (FDR value < 0.05 and P < 0.001). Our data showed epigenetic modification in specific CpG sites related to Th17 cell differentiation pathway in post-bariatric women following a 6-months exercise training program.

The intersection between COVID-19 and obesity in the context of an emerging country.

BACKGROUND & AIMS: The worldwide outbreak of the coronavirus disease 2019 (COVID-19) has already caused a substantial public health burden. Increasing number of studies linked obesity to more severe COVID-19 consequence and mortality, challenging health systems worldwide, especially in emerging countries like Brazil. Herein, we aimed to search the literature and present the current intersection between obesity and COVID-19 in the Brazilian population. METHODS: One hundred twenty-five articles were initially searched after duplicate removal, and nine were finally included in our analysis. RESULTS: Our findings emphasized the magnitude of COVID-19 infection in Brazil and the impact of obesity as a risk factor that aggravates the prognosis of outpatients or hospitalized patients. We also demonstrated social aspects of COVID-19 that could act enhancing the obesity condition in Latin American countries. CONCLUSIONS: A more careful look at the available data could help to understand better the dynamic between obesity and COVID-19, focusing on the Brazilian population and could eventually guide management strategies and therapies for COVID-19 in the future.

Weight loss normalizes enhanced expression of the oncogene survivin in visceral adipose tissue and blood leukocytes from individuals with obesity.

BACKGROUND/OBJECTIVES: Survivin is an oncogene associated with a decrease in apoptosis, an increase in tumor growth, and poor clinical outcome of diverse malignancies. A correlation between obesity, cancer, and survivin is reported in the literature. To date, the impact of weight loss on change in survivin levels is understudied. This study was aimed at: (1) comparing survivin levels in adipose tissue (AT) from lean and obese animal models and evaluating changes after weight loss induced by energy restriction and/or exercise; (2) comparing survivin levels in normal weighted and obese humans and evaluating changes in survivin levels after weight loss induced by a very-low-calorie ketogenic diet (VLCKD) or bariatric surgery in AT and/or blood leukocytes (PBL/PBMCs). SUBJECTS/METHODS: Survivin expression was evaluated in subcutaneous (SAT) and visceral (VAT) AT derived from animal models of monogenic (Zucker rats) and diet-induced obesity (Sprague Dawley rats and C57BL/6J mice) and after a 4-week weight-loss protocol of energy restriction and/or exercise. Plasma was used to measure the inflammatory status. Survivin expression was also evaluated in PBMCs from patients with obesity and compared with normal weight, in PBLs after VLCKD, and in SAT and/or PBLs after bariatric surgery. RESULTS: Survivin expression was specifically higher in VAT from obese that lean animals, without differences in SAT. It decreased after weight loss induced by energy restriction and correlated with adiposity and inflammatory markers. In humans, the correlation between being obese and higher levels of survivin was confirmed. In obese subjects, survivin levels were reduced following weight loss after either VLCKD or bariatric surgery. Particularly, a decrease in PBMCs expression (not in SAT one) was found after surgery. CONCLUSIONS: Weight loss is effective in decreasing survivin levels. Also, PBL/PBMC should be regarded as appropriate mirror of survivin levels in VAT for the identification of an obesity-related protumoral microenvironment.

Changes in DNA Methylation and Gene Expression of Insulin and Obesity-Related Gene PIK3R1 after Roux-en-Y Gastric Bypass.

Weight regulation and the magnitude of weight loss after a Roux-en-Y gastric bypass (RYGB) can be genetically determined. DNA methylation patterns and the expression of some genes can be altered after weight loss interventions, including RYGB. The present study aimed to evaluate how the gene expression and DNA methylation of PIK3R1, an obesity and insulin-related gene, change after RYGB. Blood samples were obtained from 13 women (35.9 ± 9.2 years) with severe obesity before and six months after surgical procedure. Whole blood transcriptome and epigenomic patterns were assessed by microarray-based, genome-wide technologies. A total of 1966 differentially expressed genes were identified in the pre- and postoperative periods of RYGB. From these, we observed that genes involved in obesity and insulin pathways were upregulated after surgery. Then, the PIK3R1 gene was selected for further RT-qPCR analysis and cytosine-guanine nucleotide (CpG) sites methylation evaluation. We observed that the PI3KR1 gene was upregulated, and six DNA methylation CpG sites were differently methylated after bariatric surgery. In conclusion, we found that RYGB upregulates genes involved in obesity and insulin pathways.

INSIG2 gene polymorphism is associated with higher blood pressure and triglyceride levels in Brazilian obese subjects.

INTRODUCTION: Objective: this study aimed to evaluate the association between polymorphisms of INSIG, PCSK9 and FTO genes with anthropometric, biochemical characteristics and presence of metabolic syndrome in patients with severe obesity. Material and methods: the present study enrolled 150 patients with grade II or III obesity, who were submitted to nutritional assessment, blood pressure measurement and peripheral blood collection. INSIG2 (rs75666605), PCSK9 (rs505151), and FTO (rs9939609) polymorphisms were genotyped using TaqMan Pre-Designed SNP Genotyping Assays probes in real time polymerase chain reaction (PCR). The experimental data are processed in SPSS Statistics 22.0 (p < 0.05). Results: in this study, 72.2% of obese subjects had metabolic syndrome (MS). There was a higher prevalence of AA (86.9%), CG (51.1%) and AT (46.2%) genotypes for the PCSK9, INSIG2 and FTO polymorphisms, respectively. There was no association of these polymorphisms with the prevalence of MS (p > 0.05). On the other hand, individuals with at least one variant allele (G) for the INSIG2 gene had higher triglycerides levels, systolic and diastolic blood pressure (p < 0.05). Conclusions: the polymorphism rs7566605 of the INSIG2 gene is associated with higher triglycerides levels and blood pressure values, which are also considered as risk factors for the development of MS.

INTRODUCCIÓN: Objetivo: este estudio tuvo como objetivo evaluar la asociación entre polimorfismos de los genes INSIG, PCSK9 y FTO con las características antropométricas, bioquímicas y la presencia de síndrome metabólico (SM) en pacientes con obesidad grave. Material y métodos: el presente estudio incluyó 150 pacientes con obesidad de grado II o III, que fueron sometidos a evaluación nutricional, medición de la presión arterial y extracción de sangre periférica. Los polimorfismos INSIG2 (rs75666605), PCSK9 (rs505151) y FTO (rs9939609) fueron genotipados utilizando sondas TaqMan Pre-Designed SNP Genotyping Assays en la reacción en cadena de la polimerasa en tiempo real (PCR). Los datos experimentales se procesan en SPSS Statistics 22.0 (p < 0,05). Resultados: en este estudio, el 72,2% de los sujetos obesos tenían síndrome metabólico (EM). Hubo una mayor prevalencia de genotipos AA (86,9%), CG (51,1%) y AT (46,2%) para los polimorfismos PCSK9, INSIG2 y FTO, respectivamente. No hubo asociación de estos polimorfismos con la prevalencia de SM (p > 0,05). Por otro lado, los individuos con al menos una variante de alelo (G) para el gen INSIG2 tenían niveles más altos de triglicéridos, presión arterial sistólica y diastólica (p < 0,05). Conclusiones: el polimorfismo rs7566605 del gen INSIG2 se asocia con niveles más altos de triglicéridos y valores de presión arterial, que también se consideran factores de riesgo para el desarrollo del síndrome metabólico.

Bariatric Surgery and Precision Nutrition.

This review provides a literature overview of new findings relating nutritional genomics and bariatric surgery. It also describes the importance of nutritional genomics concepts in personalized bariatric management. It includes a discussion of the potential role bariatric surgery plays in altering the three pillars of nutritional genomics: nutrigenetics, nutrigenomics, and epigenetics. We present studies that show the effect of each patient's genetic and epigenetic variables on the response to surgical weight loss treatment. We include investigations that demonstrate the association of single nucleotide polymorphisms with obesity phenotypes and their influence on weight loss after bariatric surgery. We also present reports on how significant weight loss induced by bariatric surgery impacts telomere length, and we discuss studies on the existence of an epigenetic signature associated with surgery outcomes and specific gene methylation profile, which may help to predict weight loss after a surgical procedure. Finally, we show articles which evidence that bariatric surgery may affect expression of numerous genes involved in different metabolic pathways and consequently induce functional and taxonomic changes in gut microbial communities. The role nutritional genomics plays in responses to weight loss after bariatric surgery is evident. Better understanding of the molecular pathways involved in this process is necessary for successful weight management and maintenance.

The Ala55Val and -866G>A polymorphisms of the UCP2 gene could be biomarkers for weight loss in patients who had Roux-en-Y gastric bypass.

OBJECTIVE: The aim of this study was to investigate whether the Ala55Val and -866G>A polymorphisms of the UCP2 gene are related to weight loss and changes in body composition after bariatric surgery performed by Roux-en-Y gastric bypass (RYGB). METHODS: This longitudinal study enrolled obese patients submitted to RYGB. Data regarding weight (kg), body mass index (kg/m2), fat-free mass (FFM; kg), fat mass (kg), weight loss (kg and %), and percent excess weight loss were collected from both preoperative and 1-y postoperative medical records. Polymorphisms were genotyped by allelic discrimination using real-time polymerase chain reaction and TaqMan-predesigned single nucleotide polymorphism Genotyping Assay kits (Applied Biosystems, Foster City, CA, USA). The t test was used to compare variables between genotypes of each polymorphism to analyze the dominant and recessive models. Linear regression models were used to adjust the effects of initial weight, age, and sex on the variation of weight and body composition (P < 0.05). RESULTS: We analyzed 150 severely obese individuals (age 47.2 ± 10.5 y; 80% women). Genotype analysis showed a greater prevalence of heterozygous GA (41.3%) for -866G>A polymorphism and CT (39.3%) for Ala55Val polymorphism. Individuals who carried the T (CT+TT) and A (GA+AA) mutated alleles for Ala55Val and -866G>A, respectively, showed a higher weight and FFM loss. CONCLUSION: The mutated alleles T for Ala55Val and A for -866G>A polymorphism could be biomarkers of weight loss 1 y after RYGB.

UCP1 and UCP3 Expression Is Associated with Lipid and Carbohydrate Oxidation and Body Composition.

BACKGROUND/OBJECTIVE: Uncoupling proteins (UCPs) are located in the inner membrane of mitochondria. These proteins participate in thermogenesis and energy expenditure. This study aimed to evaluate how UCP1 and UCP3 expression influences substrate oxidation and elicits possible changes in body composition in patients submitted to bariatric surgery. SUBJECTS/METHODS: This is a longitudinal study comprising 13 women with obesity grade III that underwent bariatric surgery and 10 healthy weight individuals (control group). Body composition was assessed by bioelectrical impedance. Carbohydrate and fat oxidation was determined by indirect calorimetry. Subcutaneous adipose tissue was collected for gene expression analysis. QPCR was used to evaluate UCP1 and UCP3 expression. RESULTS: Obese patients and the control group differed significantly in terms of lipid and carbohydrate oxidation. Six months after bariatric surgery, the differences disappeared. Lipid oxidation correlated with the percentage of fat mass in the postoperative period. Multiple linear regression analysis showed that the UCP1 and UCP3 genes contributed to lipid and carbohydrate oxidation. Additionally, UCP3 expression was associated with BMI, percentage of lean body mass, and percentage of mass in the postoperative period. CONCLUSIONS: UCP1 and UCP3 expression is associated with lipid and carbohydrate oxidation in patients submitted to bariatric surgery. In addition, UCP3 participates in body composition modulation six months postoperatively.

WEIGHT LOSS AND METABOLIC OUTCOMES 12 MONTHS AFTER ROUX-EN-Y GASTRIC BYPASS IN A POPULATION OF SOUTHEASTERN BRAZIL.

UNLABELLED: BACKGROUNGD: previous outcome research in bariatric surgery has to document positive changes in co-morbidities associated with obesity. OBJECTIVE: the study aimed report a description of the impact of bariatric surgery on weight loss and on the resolution of diseases associated with obesity in patients followed up for 12 months in the public health service of São Paulo/Brazil. METHODS: the study was conducted on the data for 598 selected patients with grade III obesity subjected to Rouxen- Y gastric bypass evaluated postoperatively and 6 and 12 months after surgery. Anthropometric, demographic and biochemical data and personal history were determined at each time point. Serum glucose, total cholesterol, LDL cholesterol, HDL cholesterol and triglycerides were determined in the biochemical evaluation. Data were analyzed statistically by the Chi-square test, by ANOVA followed by the Bonferroni post-test and by the Student t-test for independent data, significance set at p < 0.05. RESULTS: weight loss of 45.5 ± 13.7kg (33.5%) was observed during the first year after surgery. Serum glucose, total cholesterol and LDL cholesterol were reduced during the first six months after surgery and the values were maintained up to 12 months, whereas weight and triglycerides were reduced throughout the study period. A reduced prevalence of diabetes mellitus and dyslipidemia was observed after surgery (p < 0.001). CONCLUSIONS: Roux-en-Y gastric bypass is an important procedure for weight loss and control of comorbidities such as diabetes and dyslipidemia at least during the first postoperative year.

Introducción: la investigación de los resultados previa en cirugía bariátrica tiene que documentar los cambios positivos en las comorbilidades asociadas a la obesidad. Objetivo: el objetivo del estudio fue informar de una descripción de los efectos de la cirugía bariátrica sobre la pérdida de peso y en la resolución de enfermedades asociadas con la obesidad en pacientes seguidos durante 12 meses en el servicio de salud pública de São Paulo/Brasil. Métodos: el estudio se realizó con los datos de 598 pacientes seleccionados con obesidad grado III sometidos a bypass gástrico en Y de Roux evaluados antes y 6 y 12 meses después de la cirugía. En cada momento se determinaron la antropometría, los datos demográficos y bioquímicos y la historia personal. La glucosa sérica, el colesterol total, el colesterol LDL, el colesterol HDL y los triglicéridos fueron determinados en la evaluación bioquímica. Los datos fueron analizados estadísticamente por el test de Chi-cuadrado, por ANOVA seguido por el post-test de Bonferroni y por la prueba t de Student para datos independientes; significación fijada en p < 0,05. Resultados: se observó pérdida de peso de 45,5 ± 13,7 kg (33,5%) durante el primer año después de la cirugía. Glucosa sérica, colesterol total y colesterol LDL se redujeron durante los primeros seis meses después de la cirugía y los valores se mantuvieron hasta los 12 meses, mientras que el peso y los triglicéridos se redujeron en todo el período de estudio. Se observó una prevalencia reducida de diabetes mellitus y dislipidemia después de la cirugía (p < 0,001). Conclusiones: el bypass gástrico en Y de Roux es un procedimiento importante para la pérdida de peso y el control de las comorbilidades como la diabetes y la dislipidemia, al menos durante el primer año postoperatorio.

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson's disease patients.

INTRODUCTION: The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). METHOD: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. RESULTS: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. CONCLUSION: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients / Mutação A53T da alfa-sinucleína não é frequente em amostra de população brasileira com doença de Parkinson

Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

Introdução A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.)Objetivos Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE).Método Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05.Resultados Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos.Conclusão DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.

Impact of genetic variants of apolipoprotein E on lipid profile in patients with Parkinson's disease.

The pathogenesis of Parkinson's disease (PD) seems to involve genetic susceptibility to neurodegeneration. APOE gene has been considered a risk factor for PD. This study aimed to evaluate the association of APOE polymorphism with PD and its influence on lipid profile. We studied 232 PD patients (PD) and 169 individuals without the disease. The studied polymorphism was analyzed by PCR/RFLP. The Fisher's exact test, chi-square, ANOVA, and t-test (P < 0.05) were applied. The APOE3/3 genotype was prevalent in PD patients and Controls (P = 0.713) followed by APOE3/4 (P = 0.772). Both groups showed recommended values for lipid profile, with increase in the values of total cholesterol and LDLc, as well as decreased values of triglycerides in PD patients compared with Controls (P < 0.05 for all of them). Increased levels of HDLc, in PD patients, were associated with the APOE3/3 versus APOE-/4 genotypes (P = 0.012). The APOE polymorphism does not distinguish PD patients from Controls, as opposed to the lipid profile alone or in association with APOE. Furthermore, a relationship between increase of HDLc levels and APOE3 in homozygous was found in PD patients only.

Renin angiotensin system blockage associates with insertion/deletion polymorphism of angiotensin-converting enzyme in patients with hypertensive emergency.

Hypertensive crisis (HC) stands out as a form of acute elevation of blood pressure (BP). It can manifest itself as hypertensive emergency (HE) or hypertensive urgency (HU), which is usually accompanied with levels of diastolic BP ≥120 mmHg. Angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism may influence manifestations of HC. Thus, this study evaluated the influence of ACE I/D polymorphism in individuals with HC. A total of 187 patients admitted with HC (HU [n=69] and HE [n=118]) and 75 normotensive individuals were included in the study. Peripheral blood was drawn for a biochemical and genetic analysis of the ACE I/D polymorphism by Polymerase Chain Reaction. HC group showed higher systolic BP, body mass index (BMI), glycemia, creatinine, and lower high-density lipoprotein (HDL) cholesterol compared with normotensive individuals. The use of renin-angiotensin system (RAS) blockers was more frequent in the HU group than in the HE group (p=0.020). The II genotype was more predominant in normotensive and HU individuals than among HE individuals (18.7%, 11.6%, and 2.5%, respectively; p=0.004). Higher BMI and glycemia were associated with HC in the logistic regression model. ACE II genotype (odds ratio [OR] 0.14; 95% confidence interval [CI] 0.04-0.51) and HDL cholesterol were protective for the development of HE. ACE II genotype was present in the HU group, compared with the HE group (OR 0.18; 95% CI 0.04-0.88). This study shows an association between the low prevalence of ACE I/D polymorphism II genotype and a greater occurrence of HE in Brazilian individuals. The lower blockage of RAS, which was detected in the HE group, may interact with the low frequency of II genotype, conferring an increased risk for HE.

Effect of genetic variants related to lipid metabolism as risk factors for cholelithiasis after bariatric surgery in Brazilian population.

BACKGROUND: The manifestation of cholelithiasis after bariatric surgery may depend on genetic factors related to lipid metabolism, including apolipoprotein E (APOE) and cholesteryl ester transfer protein (CETP) gene polymorphisms. METHODS: We investigated the association between APOE HhaI and CETP TaqIB polymorphisms [PCR-RFLP] and occurrence of cholelithiasis over up to 8 months of follow-up after gastroplasty to Roux-en-Y gastric bypass in 220 patients distributed in Group 1 (G1) 114 with cholelithiasis postoperatively and Group 2 (G2) 106 without cholelithiasis, including biochemical and anthropometric profiles analyses. RESULTS: In our series, the allelic and genotypic distributions of CETP TaqIB and APOE HhaI polymorphisms were similar in both groups (P > 0.05). The subgroup analysis evidenced that 54% of the patients from G1, APOE*4 allele carriers compared with APOE*3/3 carriers, presented altered low-density lipoprotein cholesterol (LDL cholesterol) serum levels (P = 0.022) before bariatric surgery. The B1 allele for CETP was associated to more quickly elevation of HDL cholesterol levels just in individuals without cholelitiasis (P < 0.0001). The multivariate logistic regression analysis demonstrates correlation between APOE*4 allele, higher total cholesterol (TC) serum levels and prediposition to cholelitiasis in preoperative period. However, the presence of postoperative cholelithiasis was not associated with altered lipid profile. CONCLUSIONS: The CETP TaqIB and APOE HhaI polymorphisms do not seem to have association with gallstones in the late postoperative bariatric surgery, considering that these genetic variants do not differ subgroups of patients who are eligible to routine prophylactic cholecystectomy, at least in Brazilian population.

Prevalência de síndrome metabólica em indivíduos com acompanhamento cardiológico / Prevalence of metabolic syndrome in individuals with cardiologic medical assistance

Introdução: A síndrome metabólica (SM) é associada com risco aumentado para eventos cardiovasculares. Esse estudo teve como objetivo avaliar a prevalência de SM em indivíduos brasileiros com acompanhamento cardiológico, considerando antecedentes pessoais e uso de medicamentos. Métodos: Foram estudados 163 adultos (85 pacientes e 78 controles). SM foi caracterizada de acordo com os critérios da International Diabetes Federation. Analisou-se história prévia de diabetes mellitus (DM), dislipidemia, doença arterial coronária (DAC), acidente vascular encefálico (AVE), tabagismo, etilismo, sedentarismo, além de medicamentos utilizados. Admitiu-se nível de significância P<0,05. Resultados: Maior frequência de SM (59%) e de pressão arterial elevada (71%) foi observada entre os pacientes se comparado aos controles (3% e 13%, respectivamente, P<0,0001 para ambos). No grupo dos pacientes detectou-se maior prevalência de níveis reduzidos de fração de colesterol de lipoproteína de alta densidade (HDLc: 41%) e de níveis aumentados de triglicérides (TG: 39%) quando comparados aos controles (17%, P=0,0010 e 19%, P=0,0095; respectivamente). A incidência de obesidade visceral foi semelhante em pacientes (77%) e controles (64%, P=0,0890). O uso contínuo de drogas anti-hipertensivas (67%), hipoglicemiantes (18%) e hipolipemiantes (42%) foi mais prevalente em pacientes comparado aos controles (P<0,0001). Uma maior proporção de pacientes com DM,DAC e dislipidemia foi observada (P<0,0010) e história pessoal de AVE foi detectada apenas nesses indivíduos(6%, P=0,0598). Entretanto, maior frequência de tabagismo (P=0,0015), alcoolismo (P=0,0070) e sedentarismo(P=0,0236) foi observada nos controles. Conclusão: Neste estudo SM, assim como particularmente pressão arterial elevada, nível baixo de HDLc e elevado de TG destacam-se em casuística brasileira com acompanhamento cardiológico, confirmando a necessidade de combate agressivo aos fatores de risco já consagrados...

Background: The metabolic syndrome (MS) is associated with an increased risk of major cardiovascular events. This study aimed to evaluate the prevalence of MS in Brazilian individuals with cardiologic medical assistance, considering their personal history and use of drugs. Methods: One hundred sixty-three adults (85patients and 78 controls) were studied. MS was characterized using International Diabetes Federation definitions. History of diabetes mellitus (DM), dyslipidemia, coronary artery disease (CAD), stroke, smoking,alcohol consumption, sedentary lifestyle, and habitual therapy were analyzed. Significance level was definedas P<0.05. Results: Higher frequency of MS (59%) and elevated blood pressure levels (71%) were observed among patients compared to controls (3% and 13%, respectively, P<0.0001 for both). In the group of patients were detected higher prevalence of reduced levels of high-density lipoprotein cholesterol fractions (HDLc)(41%) and increased levels of triglycerides (TG: 39%) when compared to controls (17%, P=0.0010 and 19%,P=0.0095; respectively). The incidence of visceral obesity was similar in patients (77%) and controls (64%,P=0.0890). The habitual therapy with anti-hypertensive (67%), anti-hyperglycemic (18%) and lipid-lowering drugs (42%) was more prevalent in patients when compared to controls (P<0.0001). A higher rate of DM,CAD and dyslipidemia was observed in patients (P<0.0010) and personal history of stroke was detected only among these individuals (6%, p=0.0598). However, higher frequencies of smoking (P=0.0015), alcohol consumption (P=0.0070), and sedentary life style (P=0.0236) was observed among controls. Conclusions: In this study MS, particularly high blood pressure, low HDLc and high TG levels stand out in Brazilian subjects with cardiologic medical assistance, supporting the importance in order to combat the classic clustering of cardiovascular disease risk factors. In addition, the expressive rate of visceral obesity...

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.

Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95% = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total cholesterol (O.R. = 0.16, CI95% = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95% = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68%) with elevated serum triglyceride levels, compared to patients (48%, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors.

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95 percent = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total cholesterol (O.R. = 0.16, CI95 percent = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95 percent = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68 percent) with elevated serum triglyceride levels, compared to patients (48 percent, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors.

Glutathione S-transferase variants increase susceptibility for late-onset Alzheimer's disease: association study and relationship with apolipoprotein E epsilon4 allele.

BACKGROUND: Several factors participate in the pathogenesis of Alzheimer's disease (AD), including free radicals, which when out of balance with their antioxidant capacity contribute to the oxidative stress process and neuronal death. The glutathione S-transferase (GST) polymorphisms are associated with the organism detoxification capacity and can help with the identification of sub-groups that present susceptibility to the development of AD. The aim of this study was to analyze the association of GSTs, including GSTP1, GSTT1 and GSTM1 and apolipoprotein E (apoE) with AD and the distribution of these polymorphisms in the first-degree relatives of patients. METHODS: For this, 41 patients with AD, 24 elderly without cognitive deficits (control group), 109 relatives of patients with AD and 41 relatives of controls were studied. A sample of peripheral blood was drawn for leukocyte DNA extraction. The genetic polymorphisms were analyzed by PCR-RFLP. RESULTS: There was a significantly higher frequency of the 4 allele in the patients (0.21) and in their relatives (0.25) when compared to controls (0.04; p=0.01) and their relatives (0.03; p<0.0001). The V allele of the GSTP1 polymorphism was higher in patients compared to controls (0.35 and 0.19, respectively; p=0.04). In contrast, the presence of the GSTT1 polymorphism prevailed in controls (79%) and their relatives. CONCLUSIONS: The V allele may be a risk factor for AD, mainly in the presence of the apoE 4 allele, while the presence of GSTT1 may indicate protection against the disease.