HADASSA CAMPOS SANTOS
Projetos de Pesquisa
Unidades Organizacionais
LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina
5 resultados
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- A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set(2016) SANTOS, Hadassa C.; HORIMOTO, Andrea V. R.; TARAZONA-SANTOS, Eduardo; RODRIGUES-SOARES, Fernanda; BARRETO, Mauricio L.; HORTA, Bernardo L.; LIMA-COSTA, Maria F.; GOUVEIA, Mateus H.; MACHADO, Moara; SILVA, Thiago M.; SANCHES, Jose M.; ESTEBAN, Nubia; MAGALHAES, Wagner C. S.; RODRIGUES, Maira R.; KEHDY, Fernanda S. G.; PEREIRA, Alexandre C.The Brazilian population is considered to be highly admixed. The main contributing ancestral populations were European and African, with Amerindians contributing to a lesser extent. The aims of this study were to provide a resource for determining and quantifying individual continental ancestry using the smallest number of SNPs possible, thus allowing for a cost-and time-efficient strategy for genomic ancestry determination. We identified and validated a minimum set of 192 ancestry informative markers (AIMs) for the genetic ancestry determination of Brazilian populations. These markers were selected on the basis of their distribution throughout the human genome, and their capacity of being genotyped on widely available commercial platforms. We analyzed genotyping data from 6487 individuals belonging to three Brazilian cohorts. Estimates of individual admixture using this 192 AIM panels were highly correlated with estimates using similar to 370 000 genome-wide SNPs: 91%, 92%, and 74% of, respectively, African, European, and Native American ancestry components. Besides that, 192 AIMs are well distributed among populations from these ancestral continents, allowing greater freedom in future studies with this panel regarding the choice of reference populations. We also observed that genetic ancestry inferred by AIMs provides similar association results to the one obtained using ancestry inferred by genomic data (370 K SNPs) in a simple regression model with rs1426654, related to skin pigmentation, genotypes as dependent variable. In conclusion, these markers can be used to identify and accurately quantify ancestry of Latin Americans or US Hispanics/Latino individuals, in particular in the context of fine-mapping strategies that require the quantification of continental ancestry in thousands of individuals.
- Genomic ancestry as a predictor of haemodynamic profile in heart failure(2016) BERNARDEZ-PEREIRA, Sabrina; GIOLI-PEREIRA, Luciana; MARCONDES-BRAGA, Fabiana G.; SANTOS, Paulo Caleb Junior Lima; SPINA, Joceli Mabel Rocha; HORIMOTO, Andrea Roseli Vancan Russo; SANTOS, Hadassa Campos; BACAL, Fernando; FERNANDES, Fabio; MANSUR, Alfredo Jose; PIETROBON, Ricardo; KRIEGER, Jose Eduardo; MESQUITA, Evandro Tinoco; PEREIRA, Alexandre CostaObjective: The aim of this study is to assess the association between genetic ancestry, self-declared race and haemodynamic parameters in patients with chronic heart failure (HF). Methods: Observational, cross-sectional study. Eligible participants were aged between 18 and 80 years; ejection fraction was <= 50%. Patients underwent genetic analysis of ancestry informative markers, echocardiography and impedance cardiography (ICG). Race was determined by self-classification into two groups: white and non-white. Genomic ancestry was estimated using a panel of 101 348 polymorphic markers and three continental reference populations (European, African and Native American). Results: Our study included 362 patients with HF between August 2012 and August 2014. 123 patients with HF declared themselves as white and 234 patients declared themselves as non-white. No statistically significant differences were found regarding the ICG parameters according to self-declared race. The Amerindian ancestry was positively correlated with systolic time ratio (r=0.109, p<0.05). The thoracic fluid content index (r=0.124. p<0.05), E wave peak (r=0.127. p<0.05) and E/e' ratio (r=0.197. p<0.01) were correlated positively with African ancestry. In multiple linear regression, African ancestry remained associated with the E/e0 ratio, even after adjustment to risk factors. Conclusions: The African genetic ancestry was associated with worse parameters of diastolic function; the Amerindian ancestry correlated with a worse pattern of ventricular contractility, while self-declared colour was not helpful to infer haemodynamic profiles in HF.
- Cohort profile: the Baependi Heart Study - a family-based, highly admixed cohort study in a rural Brazilian town(2016) EGAN, Kieren J.; SCHANTZ, Malcolm von; NEGRAO, Andre B.; SANTOS, Hadassa C.; HORIMOTO, Andrea R. V. R.; DUARTE, Nubia E.; GONCALVES, Guilherme C.; SOLER, Julia M. P.; ANDRADE, Mariza de; LORENZI-FILHO, Geraldo; VALLADA, Homero; TAPOROSKI, Tamara P.; PEDRAZZOLI, Mario; AZAMBUJA, Ana P.; OLIVEIRA, Camila M. de; ALVIM, Rafael O.; KRIEGER, Jose E.; PEREIRA, Alexandre C.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. Participants: Probands were recruited in Baependi, a small rural town in the state of Minas Gerais, Brazil, following by first-degree and then increasingly more distant relatives. The first follow-up wave took place in 2010, and the second in 2016. At baseline, the study evaluated 1691 individuals across 95 families. Cross-sectional data have been collected for 2239 participants. Findings to date: Environmental and lifestyle factors and measures relevant to cardiovascular health have been reported. Having expanded beyond cardiovascular health outcomes, the phenotype datasets now include genetics, biochemistry, anthropometry, mental health, sleep and circadian rhythms. Many of these have yielded heritability estimates, and a shared genetic background of anxiety and depression has recently been published. In spite of universal access to electricity, the population has been found to be strongly shifted towards morningness compared with metropolitan areas. Future plans: A new follow-up, marking 10 years of the study, is ongoing in 2016, in which data are collected as in 2010 (with the exception of the neuropsychiatric protocol). In addition to this, a novel questionnaire package collecting information about intelligence, personality and spirituality is being planned. The data set on circadian rhythms and sleep will be amended through additional questionnaires, actimetry, home sleep EEG recording and dim light melatonin onset (DLMO) analysis. Finally, the anthropometric measures will be expanded by adding three-dimensional facial photography, voice recording and anatomical brain MRI.
conferenceObject Association between Amerindian (but not African or European) ancestry and diurnal preference (chronotype) within an admixed Brazilian population(2016) EGAN, K. J.; SANTOS, H. C.; DUARTE, N. E.; HORIMOTO, A. H. V. R.; KNUTSON, K. L.; PEREIRA, A. C.; SCHANTZ, M. von- Increasing The Genetic Admixture of Available Lines of Human Pluripotent Stem Cells(2016) TOFOLI, Fabiano A.; DASSO, Maximiliano; MORATO-MARQUES, Mariana; NUNES, Kelly; PEREIRA, Lucas Assis; SILVA, Giselle Siqueira da; FONSECA, Simone A. S.; COSTAS, Roberta Montero; SANTOS, Hadassa Campos; PEREIRA, Alexandre da Costa; LOTUFO, Paulo A.; BENSENOR, Isabela M.; MEYER, Diogo; PEREIRA, Lygia VeigaHuman pluripotent stem cells (hPSCs) may significantly improve drug development pipeline, serving as an in vitro system for the identification of novel leads, and for testing drug toxicity. Furthermore, these cells may be used to address the issue of differential drug response, a phenomenon greatly influenced by genetic factors. This application depends on the availability of hPSC lines from populations with diverse ancestries. So far, it has been reported that most lines of hPSCs derived worldwide are of European or East Asian ancestries. We have established 23 lines of hPSCs from Brazilian individuals, and we report the analysis of their genomic ancestry. We show that embryo-derived PSCs are mostly of European descent, while induced PSCs derived from participants of a national-wide Brazilian cohort study present high levels of admixed European, African and Native American genomic ancestry. Additionally, we use high density SNP data and estimate local ancestries, particularly those of CYP genes loci. Such information will be of key importance when interpreting variation among cell lines with respect to cellular phenotypes of interest. The availability of genetically admixed lines of hPSCs will be of relevance when setting up future in vitro studies of drug response.