Laboratorio de Epidemiología genética

El Laboratorio de Epidemiología Genética del Departamento de Genética ha centrado su interés en la variación genómica, epigenómica y transcriptómica a nivel poblacional de individuos con enfermedades o fenotipos complejos como cáncer esporádico (cáncer de mama, melanoma y leucemias), parto prematuro y longevidad.

Los estudios de asociación (GWAS) han identificado una multitud de variantes genéticas asociadas a enfermedades complejas. Sin embargo, el tamaño del efecto es modesto y la mayoría de la causalidad sigue siendo inexplicable para las enfermedades más comunes. Sumado a que la mayoría de estas variantes son propias de cada población, por lo que muchas veces los resultados no pueden extrapolarse a las poblaciones latinoamericanas con una alta tasa de mestizaje. Por ello, es central para nuestra investigación el desarrollo de múltiples abordajes para la integración de datos genéticos, epigenéticos y epidemiológicos (demográficos, ambientales, etc.), y su aplicación en estudios de asociación en enfermedades o fenotipos complejos, con el fin de aportar datos de nuestra población para avanzar en la medicina translacional.

Esto ha implicado un gran desarrollo y capacitación en el uso de distintas tecnologías desde PCR en tiempo real, análisis por microarreglos tanto para marcadores genéticos como epigenéticos, y secuenciación masiva de paneles de genes, genomas y transcriptomas completos. En paralelo, esto fue acompañado por el desarrollo y generación de plataformas bioinformáticas integradas, así como la formación de investigadores en el área de análisis bioinformático de datos.

Para poder llevar adelante este trabajo contamos con el apoyo y colaboración de diferentes grupos de investigación de antropología biológica, de biología de la reproducción, de las clínicas de dermatología, reproducción asistida o departamento básico de la Facultad de Medicina, Hospital Pasteur, así como la colaboración con grupos de investigación de España, EEUU e Inglaterra.

Role of the prosegment of Fasciola hepatica cathepsin L1 in folding of the catalytic domain

Mónica Cappetta, Ivana Roth, Alvaro Díaz, José Tort, Leda Roche
Abstract
Admixture in Hispanics: distribution of ancestral population contributions in the Continental United States

Bernardo Bertoni, Bruce Budowle, Mónica Sans, Sara A Barton, Ranajit Chakraborty
Abstract
(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

M Rodríguez, C Camejo, B Bertoni, C Braida, M M Rodríguez, B Brais, M Medici, L Roche
Abstract
Directional mating and a rapid male population expansion in a hybrid Uruguayan population

Bernardo Bertoni, Li Jin, Ranajit Chakraborty, Mónica Sans
Abstract
The major cathepsin L secreted by the invasive juvenile Fasciola hepatica prefers proline in the S2 subsite and can cleave collagen

Ileana Corvo, Martín Cancela, Mónica Cappetta, Natalia Pi-Denis, José F Tort, Leda Roche
Abstract
Allelic frequencies and statistical data from 30 INDEL loci in Uruguayan population

M Saiz, F André, N Pisano, N Sandberg, B Bertoni, S Pagano
Abstract
Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients

Mónica Cappetta, María Berdasco, Jimena Hochmann, Carolina Bonilla, Mónica Sans, Pedro C Hidalgo, Nora Artagaveytia, Rick Kittles, Miguel Martínez, Manel Esteller, Bernardo Bertoni
Abstract
Interactions between environmental factors and maternal-fetal genetic variations: strategies to elucidate risks of preterm birth

Silvana Pereyra, Bernardo Bertoni, Rossana Sapiro
Abstract
Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Nora Berois, Diego Touya, Luis Ubillos, Bernardo Bertoni, Eduardo Osinaga, Mario Varangot
Abstract
Associations between male infertility and ancestry in South Americans: a case control study

Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni, Rossana Sapiro
Abstract
DNA damage and epigenetic alteration in soybean farmers exposed to complex mixture of pesticides

Danieli Benedetti, Barbara Lopes Alderete, Claudia Telles de Souza, Johnny Ferraz Dias, Liana Niekraszewicz, Mónica Cappetta, Wilner Martínez-López, Juliana Da Silva
Abstract
Chronic occupational exposure endured by tobacco farmers from Brazil and association with DNA damage

Vívian F Silva Kahl, Varinderpal Singh Dhillon, Daniel Simon, Fernanda Rabaioli da Silva, Mirian Salvador, Cátia Dos Santos Branco, Mónica Cappetta, Wilner Martínez-López, Flávia V Thiesen, Johnny F Dias, Claudia Telles de Souza, Michael Fenech, Juliana…
Abstract
Occupational Exposure to Pesticides in Tobacco Fields: The Integrated Evaluation of Nutritional Intake and Susceptibility on Genomic and Epigenetic Instability

Vivian F Silva Kahl, Varinderpal Dhillon, Michael Fenech, Melissa Rosa de Souza, Fabiane Nitzke da Silva, Norma Anair Possa Marroni, Emilene Arusievicz Nunes, Giselle Cerchiaro, Tatiana Pedron, Bruno Lemos Batista, Mónica Cappetta, Wilner Mártinez-López,…
Abstract
Shorter telomere length and DNA hypermethylation in peripheral blood cells of coal workers

Melissa Rosa de Souza, Vivian Francília Silva Kahl, Paula Rohr, Kátia Kvitko, Mónica Cappetta, Wilner Martinez Lopes, Juliana da Silva
Abstract
Transcriptomic analysis of fetal membranes reveals pathways involved in preterm birth

Silvana Pereyra, Claudio Sosa, Bernardo Bertoni, Rossana Sapiro
Abstract
Anthropogenic Effects on Natural Mammalian Populations: Correlation Between Telomere Length and Coal Exposure

Cristina A Matzenbacher, Juliana Da Silva, Ana Leticia H Garcia, Mónica Cappetta, Thales R O de Freitas
Abstract
The influence of polymorphisms of xenobiotic-metabolizing and DNA repair genes in DNA damage, telomere length and global DNA methylation evaluated in open-cast coal mining workers

Melissa Rosa de Souza, Paula Rohr, Vivian Francília Silva Kahl, Kátia Kvitko, Mónica Cappetta, Wilner Martinez Lopes, Daniel Simon, Juliana da Silva
Abstract
Effect of 15 BMI-Associated Polymorphisms, Reported for Europeans, across Ethnicities and Degrees of Amerindian Ancestry in Mexican Children

Paula Costa-Urrutia, Carolina Abud, Valentina Franco-Trecu, Valentina Colistro, Martha Eunice Rodríguez-Arellano, Rafael Alvarez-Fariña, Víctor Acuña Alonso, Bernardo Bertoni, Julio Granados
Abstract
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Lucía Brignoni, Mónica Cappetta, Valentina Colistro, Mónica Sans, Nora Artagaveytia, Carolina Bonilla, Bernardo Bertoni
Abstract
Discovery of novel DNA methylation biomarkers for non-invasive sporadic breast cancer detection in the Latino population

Mónica Cappetta, Lucía Fernandez, Lucía Brignoni, Nora Artagaveytia, Carolina Bonilla, Miguel López, Manel Esteller, Bernardo Bertoni, María Berdasco
Abstract
Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer

Carolina Bonilla, Bernardo Bertoni, Josine L Min, Gibran Hemani, Genetics of DNA Methylation Consortium, Hannah R Elliott
Abstract
Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia

Gabriela Burgueño-Rodríguez, Yessika Méndez, Natalia Olano, Agustín Dabezies, Bernardo Bertoni, Jorge Souto, Luis Castillo, Julio da Luz, Ana María Soler
Abstract

Publicaciones

Role of the prosegment of Fasciola hepatica cathepsin L1 in folding of the catalytic domain

Admixture in Hispanics: distribution of ancestral population contributions in the Continental United States

(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

Directional mating and a rapid male population expansion in a hybrid Uruguayan population

The major cathepsin L secreted by the invasive juvenile Fasciola hepatica prefers proline in the S2 subsite and can cleave collagen

Allelic frequencies and statistical data from 30 INDEL loci in Uruguayan population

Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients

Interactions between environmental factors and maternal-fetal genetic variations: strategies to elucidate risks of preterm birth

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Associations between male infertility and ancestry in South Americans: a case control study

DNA damage and epigenetic alteration in soybean farmers exposed to complex mixture of pesticides

Chronic occupational exposure endured by tobacco farmers from Brazil and association with DNA damage

Occupational Exposure to Pesticides in Tobacco Fields: The Integrated Evaluation of Nutritional Intake and Susceptibility on Genomic and Epigenetic Instability

Shorter telomere length and DNA hypermethylation in peripheral blood cells of coal workers

Transcriptomic analysis of fetal membranes reveals pathways involved in preterm birth

Anthropogenic Effects on Natural Mammalian Populations: Correlation Between Telomere Length and Coal Exposure

The influence of polymorphisms of xenobiotic-metabolizing and DNA repair genes in DNA damage, telomere length and global DNA methylation evaluated in open-cast coal mining workers

Effect of 15 BMI-Associated Polymorphisms, Reported for Europeans, across Ethnicities and Degrees of Amerindian Ancestry in Mexican Children

Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Discovery of novel DNA methylation biomarkers for non-invasive sporadic breast cancer detection in the Latino population

Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer

Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia

Integrantes