Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess their relationship with self-reported skin color/race in an admixed population of Sao Paulo city. We analyzed 226,346 single-nucleotide polymorphisms from 841 individuals participating in the population-based ISA-Nutrition study. Our findings confirmed the admixed nature of the population, demonstrating substantial European, significant Sub-Saharan African, and minor Native American ancestries, irrespective of skin color. A correlation was observed between global genetic ancestry and self-reported color-race, which was more evident in the extreme proportions of African and European ancestries. Individuals with higher African ancestry tended to identify as Black, those with higher European ancestry tended to identify as White, and individuals with higher Native American ancestry were more likely to self-identify as Mixed, a group with diverse ancestral compositions. However, at the individual level, this correlation was notably weak, and no deviations were observed for specific regions throughout the individual’s genome. Our findings emphasize the significance of accurately defining and thoroughly analyzing race and ancestry, especially within admixed populations.

Background Cardiovascular diseases (CVDs) are the main cause of morbidity and mortality in Brazil. Objective To provide population-based data on prevalence and factors associated with CVD risk factors. Methods Individuals aged ≥20 years from two editions of the cross-sectional Health Survey of São Paulo focusing on Nutrition (ISA-Nutrition), performed in Sao Paulo city in 2008 (n=590) and 2015 (n=610), were evaluated for: obesity, central obesity, waist/height ratio, high blood pressure (HBP), dyslipidemia, diabetes, and number of CVD risk factors [...] Abstract Background Cardiovascular diseases (CVDs) are the main cause of morbidity and mortality in Brazil. Objective To provide population-based data on prevalence and factors associated with CVD risk factors. Methods Individuals aged ≥20 years from two editions of the cross-sectional Health Survey of São Paulo focusing on Nutrition (ISA-Nutrition), performed in Sao Paulo city in 2008 (n=590) and 2015 (n=610), were evaluated for: obesity, central obesity, waist/height ratio, high blood pressure (HBP), dyslipidemia, diabetes, and number of CVD risk factors

Objective: Breast cancer (BC) is the main cause of cancer-related deaths in women across the world. It can be classified into different subtypes, including triple-negative (TN), which is characterized by the absence of hormone receptors for estrogen and progesterone and the lack of the human epidermal growth factor receptor 2. These tumors have high heterogeneity, acquire therapeutic resistance, and have no established target-driven treatment yet. The identification of differentially expressed genes in TN breast tumors and the in silico validation of their prognostic role in these tumors. Materials and Methods: We employed a microarray dataset and, by using the GEO2R tool, we identified a list of differentially expressed genes. The in silico validation was conducted using several online platforms including the KM Plotter, cBioPortal, bc-GenExMiner, Prognoscan, and Roc Plotter. Results: We observed that FZD9 was among the top differentially expressed genes in a cohort of patients with different TNBC subtypes. The FZD9 expression was significantly different in TN breast tumors than in non-TN (nTN) breast tumors (p<0.0001), and the basal TN subtype showed the highest levels (p<0.0001). In addition, the FZD9 levels were significantly inversely and positively proportional (p<0.0001) to estrogen receptor, progesterone receptor, and human epidermal growth factor receptor-2 clinical parameters. The high levels of FZD9 were associated with worse overall survival (p=0.007), relapse-free survival (p=5.8e-05), and worse survival in patients who received chemotherapy (p=3.2e-05; 0.007). Conclusion: Our cumulative results demonstrated that FZD9 plays an important role in TNBC and may be a potential prognostic biomarker. Nevertheless, further in vitro and in vivo assays are necessary to confirm our findings and to strengthen the evidences about the mechanisms by which FZD9 functions in these tumors.

Introduction: The engagement in sports or habitual physical activity (PA) has shown an extensive protective role against multiple diseases such as cancer, obesity, and many others. Additionally, PA has also a significant impact on life quality, since it aids with managing stress, preserving cognitive function and memory, and preventing fractures in the elderly. Objective: Considering there has been multiple evidence showing that genetic variation underpins variation of PA-related traits, we aimed to estimate the heritability (h²) of these phenotypes in a sample from the Brazilian population and assess whether males and females differ in relation to those estimates. Methods: 2,027 participants from a highly admixed population from Baependi, MG, Brazil, had information regarding their PA and sedentary behavior (SB) phenotypes collected through a questionnaire (IPAQ-SF). After data cleaning and transformation procedures, we obtained four variables to be evaluated: total PA (TPA MET), walking time, (WK MET), moderate-vigorous PA (MVPA MET), and SB. A model selection procedure was performed using a single-step covariate inclusion approach. We tested for BMI, waist, hip and neck circumferences, smoking, and depression separately, and performed correlation tests among covariates. Linear mixed models, selection procedure, and the variance components approach to estimate h² were implemented using SOLAR-Eclipse 8.3.1. Results: We obtained estimates of 0.221, 0.109, 0.226, and 0 for TPA MET, WK MET, MVPA MET, and SB, respectively. We found evidence for gene-sex interactions, with males having higher sex-specific heritabilities than females for TPA MET and MVPA MET. In addition, we found higher estimates of the genetic variance component in males than females for most phenotypes. Discussion/Conclusion: The heritability estimates presented in this work show a moderate heritable set of genetic factors affecting PA in a sample from the Brazilian population. The evaluation of the genetic variance component suggests segregating genetic factors in male individuals are more heterogeneous, which can explain why men globally tend to need to practice more intense PA than women to achieve similar health benefits. Hence, these findings have significant implications for the understanding of the genetic architecture of PA and might aid to promote health in the future.

The rise in obesity and related chronic noncommunicable diseases (NCDs) during recent decades in Brazil has been associated with increases in the financial burden and risk of impoverishment due to out-of-pocket (OOP) health expenditure. Thus, this study investigated trends and predictors associated with impoverishment due to health expenditure, in the population of São Paulo city, Brazil, between 2003 and 2015. Household data from the São Paulo Health Survey (n = 5475) were used to estimate impoverishment linked to OOP health expenses, using the three thresholds of International Poverty Lines (IPLs) defined by the World Bank at 1.90, 3.20, and 5.50 dollars per capita per day purchasing power parity (PPP) in 2011. The results indicated a high incidence of impoverishment due to OOP disbursements for health care throughout the period, predominantly concentrated among low-income individuals. Lifestyle choices referring to leisure-time physical activity (OR = 0.766 at $3.20 IPL, and OR = 0.789 at $5.50 IPL) were linked to reduction in the risk for impoverishment due to OOP health expenditures whilst there were increases in the probability of impoverishment due to cardiometabolic risk factors referring to obesity (OR = 1.588 at $3.20 IPL, and OR = 1.633 at $5.50 IPL), and diagnosis of cardiovascular diseases (OR = 2.268 at $1.90 IPL, OR = 1.967 at $3.20 IPL, and OR = 1.936 at $5.50 IPL). Diagnosis of type 2 diabetes mellitus was associated with an increase in the probability of impoverishment at only the $1.90 IPL (OR = 2.506), whilst coefficients for high blood pressure presented lack of significance in the models. Health policies should focus on interventions for prevention of obesity to ensure the financial protection of the population in São Paulo city, Brazil, especially targeting modifiable lifestyle choices like promotion of physical activity and reduction of tobacco use.