Random Forest Analysis of Out-of-Pocket Health Expenditures Associated with Cardiometabolic Diseases, Lifestyle, Lipid Profile, and Genetic Information in São Paulo, Brazil.

There is a lack of empirical studies of out-of-pocket health expenditures associated with dyslipidemias, which are major cardiovascular risk factors, especially in underrepresented admixed populations. The study investigates associations of health costs with lipid traits, GWAS-derived genetic risk scores (GRSs), and other cardiometabolic risk factors. Data from the observational cross-sectional 2015 ISA-Nutrition comprised lifestyle, environmental factors, socioeconomic and demographic variables, and biochemical and genetic markers related to the occurrence of cardiometabolic diseases.

Genetic Ancestry and Self-Reported "Skin Color/Race" in the Urban Admixed Population of São Paulo City, Brazil.

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.

Missense genetic variants in major bitter taste receptors are associated with diet quality and food intake in a highly admixed underrepresented population.

Background And Aims: To investigate associations between Single Nucleotide Polymorphisms (SNPs) in the TAS1R and TAS2R taste receptors and diet quality, intake of alcohol, added sugar, and fat, using linear regression and machine learning techniques in a highly admixed population.

Methods: In the ISA-Capital health survey, 901 individuals were interviewed and had socioeconomic, demographic, health characteristics, along with dietary information obtained through two 24-h recalls. Data on 12 components related to food groups, nutrients, and calories was combined into a diet quality score (BHEI-R).

Association of dyslipidemia with single nucleotide polymorphisms of the cholesteryl ester transfer protein gene and cardiovascular disease risk factors in a highly admixed population.

Background And Aims: Cardiovascular diseases (CVD) are major causes of mortality worldwide, leading to premature deaths, loss of quality of life, and extensive socioeconomic impacts. Alterations in normal plasma lipid concentrations comprise important risk factors associated with CVD due to mechanisms involved in the pathophysiology of atherosclerosis. Genetic markers such as single nucleotide polymorphisms (SNPs) are known to be associated with lipid metabolism, including variants in the cholesteryl ester transfer protein (CETP) gene.

Heritability and Sex-Specific Genetic Effects of Self-Reported Physical Activity in a Brazilian Highly Admixed Population.

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.

Bayesian diagnostic analysis for quantitative trait mapping.

QTL mapping is an important tool for identifying regions in chromosomes which are relevant to explain a response of interest. It is a special case of the regression model where an unknown number of missing (non-observable) covariates is involved leading to a complex variable selection procedure. Although several methods have been proposed to identify QTLs and to estimate parameters in the associated model, minimum attention has been devoted to the estimated model adequacy.

Variance-Preserving Estimation of Intensity Values Obtained From Omics Experiments.

Faced with the lack of reliability and reproducibility in omics studies, more careful and robust methods are needed to overcome the existing challenges in the multi-omics analysis. In conventional omics data analysis, signal intensity values (denoted by and values) are estimated neglecting pixel-level uncertainties, which may reflect noise and systematic artifacts. For example, intensity values from two-color microarray data are estimated by taking the mean or median of the pixel intensities within the spot and then subjected to a within-slide normalization by LOWESS.

Assessing functional status after intensive care unit stay: the Barthel Index and the Katz Index.

Objective: To assess the functional status of post-ICU patients using the Barthel Index (BI) and the Katz Index (KI) and to assess which is more suitable for this population.

Design: Retrospective longitudinal study.

Setting: Public tertiary hospital in São Paulo (Brazil).

Cohort profile: the Baependi Heart Study-a family-based, highly admixed cohort study in a rural Brazilian town.

Purpose: Cardiovascular disease (CVD) is a major challenge to global health. The same epidemiological transition scenario is replayed as countries develop, but with variations based on environment, culture and ethnic mixture. The Baependi Heart Study was set up in 2005 to develop a longitudinal family-based cohort study that reflects on some of the genetic and lifestyle-related peculiarities of the Brazilian populations, in order to evaluate genetic and environmental influences on CVD risk factor traits.

Bayesian Variable Selection in Multilevel Item Response Theory Models with Application in Genomics.

The goal of this paper is to present an implementation of stochastic search variable selection (SSVS) to multilevel model from item response theory (IRT). As experimental settings get more complex and models are required to integrate multiple (and sometimes massive) sources of information, a model that can jointly summarize and select the most relevant characteristics can provide better interpretation and a deeper insight into the problem. A multilevel IRT model recently proposed in the literature for modeling multifactorial diseases is extended to perform variable selection in the presence of thousands of covariates using SSVS.

Using item response theory to model multiple phenotypes and their joint heritability in family data.

Many important complex diseases are composed of a series of phenotypes, which makes the disease diagnosis and its genetic dissection difficult. The standard procedures to determine heritability in such complex diseases are either applied for single phenotype analyses or to compare findings across phenotypes or multidimensional reduction procedures, such as principal components analysis using all phenotypes. However each method has its own problems and the challenges are even more complex for extended family data and categorical phenotypes.

Brazilian urban population genetic structure reveals a high degree of admixture.

Advances in genotyping technologies have contributed to a better understanding of human population genetic structure and improved the analysis of association studies. To analyze patterns of human genetic variation in Brazil, we used SNP data from 1129 individuals--138 from the urban population of Sao Paulo, Brazil, and 991 from 11 populations of the HapMap Project. Principal components analysis was performed on the SNPs common to these populations, to identify the composition and the number of SNPs needed to capture the genetic variation of them.

Genetic analysis of age-at-onset for cardiovascular risk factors in a Brazilian family study.

Background/aims: Statistical analysis of age-at-onset involving family data is particularly complicated because there is a correlation pattern that needs to be modeled and also because there are measurements that are censored. In this paper, our main purpose was to evaluate the effect of genetic and shared family environmental factors on age-at-onset of three cardiovascular risk factors: hypertension, diabetes and high cholesterol.

Methods: The mixed-effects Cox model proposed by Pankratz et al.

Congenic strains provide evidence that four mapped loci in chromosomes 2, 4, and 16 influence hypertension in the SHR.

To dissect the genetic architecture controlling blood pressure (BP) regulation in the spontaneously hypertensive rat (SHR) we derived congenic rat strains for four previously mapped BP quantitative trait loci (QTLs) in chromosomes 2, 4, and 16. Target chromosomal regions from the Brown Norway rat (BN) averaging 13-29 cM were introgressed by marker-assisted breeding onto the SHR genome in 12 or 13 generations. Under normal salt intake, QTLs on chromosomes 2a, 2c, and 4 were associated with significant changes in systolic BP (13, 20, and 15 mmHg, respectively), whereas the QTL on chromosome 16 had no measurable effect.

Erbium, chromium:yttrium scandium gallium garnet laser for caries removal: influence on bonding of a self-etching adhesive system.

This study evaluated the influence of the dental substrates obtained after the use of different caries removal techniques on bonding of a self-etching system. Forty, extracted, carious, human molars were ground to expose flat surfaces containing caries-infected dentine surrounded by sound dentine. The caries lesions of the specimens were removed or not (control--G1) either by round steel burs and water-cooled, low speed, handpiece (G2), or by irradiation with an erbium, chromium:yttrium scandium gallium garnet (Er,Cr:YSGG) laser (2W, 20 Hz, 35.

Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5.

Background: The genetic mechanisms underlying interindividual blood pressure variation reflect the complex interplay of both genetic and environmental variables. The current standard statistical methods for detecting genes involved in the regulation mechanisms of complex traits are based on univariate analysis. Few studies have focused on the search for and understanding of quantitative trait loci responsible for gene x environmental interactions or multiple trait analysis.

Longitudinal familial analysis of blood pressure involving parametric (co)variance functions.

Background: For analyzing longitudinal familial data we adopted a log-linear form to incorporate heterogeneity in genetic variance components over the time, and additionally a serial correlation term in the genetic effects at different levels of ages. Due to the availability of multiple measures on the same individual, we permitted environmental correlations that may change across time.

Results: Systolic blood pressure from family members from the first and second cohort was used in the current analysis.

Strategy and model building in the fourth dimension: a null model for genotype x age interaction as a Gaussian stationary stochastic process.

Background: Using univariate and multivariate variance components linkage analysis methods, we studied possible genotype x age interaction in cardiovascular phenotypes related to the aging process from the Framingham Heart Study.

Results: We found evidence for genotype x age interaction for fasting glucose and systolic blood pressure.

Conclusions: There is polygenic genotype x age interaction for fasting glucose and systolic blood pressure and quantitative trait locus x age interaction for a linkage signal for systolic blood pressure phenotypes located on chromosome 17 at 67 cM.