Genomic Epidemiology of Complex Diseases in Population-based Brazilian Cohorts

The EPIGEN-Brasil Initiative is so far the largest Latin American initiative in population genomics and genetic epidemiology. Its main goal is to study the association between genetic variants found in the Brazilian population and complex diseases, taking into account one of the most important characteristics of this population: its admixture. Population genetic include genomewide genotyping of 6487 individuals and high-resolution whole genome sequencing from 30 individuals from three population-based Brazilian cohorts: Salvador, Bambuí and Pelotas. More information about the population-based cohorts are available on: For the 1982 Pelotas birth cohort study in Victora and Barros 2006 (PMID 16373375); For the Bambui cohort study of aging in LIma-Costa MF et al. (2011) (PMID 20805109); For the Salvador-Scaala study in Barreto et al. (2006) (PMID 16796729)

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 11 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00010000787	Epigen-Brasil samples using HumanOmni2.5		6487

Publications	Citations
Cohort profile: the Bambui (Brazil) Cohort Study of Ageing. Lima-Costa MF, Firmo JO, Uchoa E. Int J Epidemiol 40: 2011 862-867	64
Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations. Kehdy FS, Gouveia MH, Machado M, Magalhães WC, Horimoto AR, Horta BL, Moreira RG, Leal TP, Scliar MO, Soares-Souza GB, Rodrigues-Soares F, Araújo GS, Zamudio R, Sant Anna HP, Santos HC, Duarte NE, Fiaccone RL, Figueiredo CA, Silva TM, Costa GN, Beleza S, Berg DE, Cabrera L, Debortoli G, Duarte D, Ghirotto S, Gilman RH, Gonçalves VF, Marrero AR, Muniz YC, Weissensteiner H, Yeager M, Rodrigues LC, Barreto ML, Lima-Costa MF, Pereira AC, Rodrigues MR, Tarazona-Santos E, Brazilian EPIGEN Project Consortium. Proc Natl Acad Sci U S A 112: 2015 8696-8701	130
A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set. Santos HC, Horimoto AV, Tarazona-Santos E, Rodrigues-Soares F, Barreto ML, Horta BL, Lima-Costa MF, Gouveia MH, Machado M, Silva TM, Sanches JM, Esteban N, Magalhaes WC, Rodrigues MR, Kehdy FS, Pereira AC, Brazilian EPIGEN Project Consortium. Eur J Hum Genet 24: 2016 725-731	24
Genomic Ancestry, Self-Rated Health and Its Association with Mortality in an Admixed Population: 10 Year Follow-Up of the Bambui-Epigen (Brazil) Cohort Study of Ageing. Lima-Costa MF, Macinko J, Mambrini JV, Cesar CC, Peixoto SV, Magalhães WC, Horta BL, Barreto M, Castro-Costa E, Firmo JO, Proietti FA, Leal TP, Rodrigues MR, Pereira A, Tarazona-Santos E. PLoS One 10: 2015 e0144456	8
Genomic African and Native American Ancestry and Chagas Disease: The Bambui (Brazil) Epigen Cohort Study of Aging. Lima-Costa MF, Macinko J, Mambrini JV, Peixoto SV, Pereira AC, Tarazona-Santos E, Ribeiro AL. PLoS Negl Trop Dis 10: 2016 e0004724	7
Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children. Marques CR, Costa GN, da Silva TM, Oliveira P, Cruz AA, Alcantara-Neves NM, Fiaccone RL, Horta BL, Hartwig FP, Burchard EG, Pino-Yanes M, Rodrigues LC, Lima-Costa MF, Pereira AC, Gouveia MH, Sant Anna HP, Tarazona-Santos E, Lima Barreto M, Figueiredo CA. Eur J Hum Genet 25: 2017 439-445	8
Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging. Gouveia MH, Cesar CC, Santolalla ML, Anna HPS, Scliar MO, Leal TP, Araújo NM, Soares-Souza GB, Magalhães WCS, Mata IF, Ferri CP, Castro-Costa E, Mbulaiteye SM, Tishkoff SA, Shriner D, Rotimi CN, Tarazona-Santos E, Lima-Costa MF. Sci Rep 9: 2019 18085	7
Origins, Admixture Dynamics, and Homogenization of the African Gene Pool in the Americas. Gouveia MH, Borda V, Leal TP, Moreira RG, Bergen AW, Kehdy FSG, Alvim I, Aquino MM, Araujo GS, Araujo NM, Furlan V, Liboredo R, Machado M, Magalhaes WCS, Michelin LA, Rodrigues MR, Rodrigues-Soares F, Sant Anna HP, Santolalla ML, Scliar MO, Soares-Souza G, Zamudio R, Zolini C, Bortolini MC, Dean M, Gilman RH, Guio H, Rocha J, Pereira AC, Barreto ML, Horta BL, Lima-Costa MF, Mbulaiteye SM, Chanock SJ, Tishkoff SA, Yeager M, Tarazona-Santos E. Mol Biol Evol 37: 2020 1647-1656	31
<i>WSB1</i> and <i>IL21R</i> Genetic Variants Are Involved in Th2 Immune Responses to <i>Ascaris lumbricoides</i>. Carneiro VL, da Silva HBF, Queiroz GA, Veiga RV, Oliveira PRS, Carneiro NVQ, Pires AO, da Silva RR, Sena F, Belitardo E, Nascimento R, Silva M, Marques CR, Costa RDS, Alcantra-Neves NM, Barreto ML, Cooper PJ, Figueiredo CA. Front Immunol 12: 2021 622051	1
<i>LRRK2</i> Gene Variants Associated With a Higher Risk for Alcohol Dependence in Multiethnic Populations. Oliveira PRS, de Matos LO, Araujo NM, Sant Anna HP, da Silva E Silva DA, Damasceno AKA, Martins de Carvalho L, Horta BL, Lima-Costa MF, Barreto ML, Wiers CE, Volkow ND, Brunialti Godard AL. Front Psychiatry 12: 2021 665257	1
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. Borda V, Loesch DP, Guo B, Laboulaye R, Veliz-Otani D, French JN, Leal TP, Gogarten SM, Ikpe S, Gouveia MH, Mendes M, Abecasis GR, Alvim I, Arboleda-Bustos CE, Arboleda G, Arboleda H, Barreto ML, Barwick L, Bezzera MA, Blangero J, Borges V, Caceres O, Cai J, Chana-Cuevas P, Chen Z, Custer B, Dean M, Dinardo C, Domingos I, Duggirala R, Dieguez E, Fernandez W, Ferraz HB, Gilliland F, Guio H, Horta B, Curran JE, Johnsen JM, Kaplan RC, Kelly S, Kenny EE, Konkle BA, Kooperberg C, Lescano A, Lima-Costa MF, Loos RJF, Manichaikul A, Meyers DA, Naslavsky MS, Nickerson DA, North KE, Padilla C, Preuss M, Raggio V, Reiner AP, Rich SS, Rieder CR, Rienstra M, Rotter JI, Rundek T, Sacco RL, Sanchez C, Sankaran VG, Santos-Lobato BL, Schumacher-Schuh AF, Scliar MO, Silverman EK, Sofer T, Lasky-Su J, Tumas V, Weiss ST, Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD), National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network (SiGN) Consortium, Trans-Omics for Precision Medicine (TOPMed) Population Genetics Working Group, Mata IF, Hernandez RD, Tarazona-Santos E, O'Connor TD. Cell Genom 4: 2024 100692	2