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Genomics, epigenomics and pharmacogenomics of Familial Hypercholesterolemia (FHBGEP): A study protocol
Borges, Jéssica Bassani; Oliveira, Victor Fernandes de; Ferreira, Glaucio Monteiro; Los, Bruna; Barbosa, Thais Kristini Almendros Afonso; Marçal, Elisangela da Silva Rodrigues; Dagli-Hernandez, Carolina; Freitas, Renata Caroline Costa de; Bortolin, Raul Hernandes; Mori, Augusto Akira; Hirata, Thiago Dominguez Crespo; Nakaya, Helder Takashi Imoto; Bastos, Gisele Medeiros; Thurow, Helena Strelow; Gonçalves, Rodrigo Marques; Araujo, Daniel Branco de; Zatz, Henry Paulo; Bertolami, Adriana; Faludi, André Arpad; Bertolami, Marcelo Chiara; Sousa, Amanda Guerra de Moraes Rego; França, João Ítalo Dias; Jannes, Cinthia Elim; Pereira, Alexandre da Costa; Nakazone, Marcelo Arruda; Souza, Dorotéia Rossi Silva; Carmo, Tayanne Silva; Sampaiol, Marcelo Ferraz; Gorjao, Renata; Pithon-Curi, Tania Cristina; Moriel, Patricia; Silbiger, Vivian Nogueira; Luchessi, André Ducati; Araújo, Jéssica Nayara Góes de; Naslavsky, Michel Satya; Yu Ting Wang, Jaqueline; Kronenberger, Thales; Cerda, Alvaro; Lin-Wang, Hui Tzu; Garofalo, Adriana Regina; Fajardo, Cristina Moreno; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Afiliação
  • Borges, Jéssica Bassani; School of Pharmaceutical Sciences, University of São Paulo. Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Oliveira, Victor Fernandes de; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Ferreira, Glaucio Monteiro; School of Pharmaceutical Sciences, University of São Paulo. Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Los, Bruna; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Barbosa, Thais Kristini Almendros Afonso; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Marçal, Elisangela da Silva Rodrigues; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Dagli-Hernandez, Carolina; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Freitas, Renata Caroline Costa de; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Bortolin, Raul Hernandes; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Mori, Augusto Akira; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Hirata, Thiago Dominguez Crespo; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Nakaya, Helder Takashi Imoto; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Bastos, Gisele Medeiros; Institute Dante Pazzanese of Cardiology. Real e Benemerita Associação Portuguesa de Beneficiência. São Paulo. BR
  • Thurow, Helena Strelow; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Gonçalves, Rodrigo Marques; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Araujo, Daniel Branco de; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Zatz, Henry Paulo; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Bertolami, Adriana; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Faludi, André Arpad; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Bertolami, Marcelo Chiara; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Sousa, Amanda Guerra de Moraes Rego; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • França, João Ítalo Dias; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Jannes, Cinthia Elim; Heart Institute, University of São Paulo. São Paulo. BR
  • Pereira, Alexandre da Costa; Heart Institute, University of São Paulo. São Paulo. BR
  • Nakazone, Marcelo Arruda; Sao Jose do Rio Preto Medical School. São Jose do Rio Preto. BR
  • Souza, Dorotéia Rossi Silva; São José do Rio Preto Medical School,. São José do Rio Preto. BR
  • Carmo, Tayanne Silva; São José do Rio Preto Medical School. São José do Rio Preto. BR
  • Sampaiol, Marcelo Ferraz; Real e Benemerita Associação Portuguesa de Beneficiência. São Paulo. BR
  • Gorjao, Renata; Cruzeiro do Sul University. São Paulo. BR
  • Pithon-Curi, Tania Cristina; Cruzeiro do Sul University. São Paulo. BR
  • Moriel, Patricia; Faculty of Pharmaceutical Sciences, University of Campinas. Campinas. BR
  • Silbiger, Vivian Nogueira; Department of Clinical and Toxicological Analyses, Federal University of Rio Grande do Norte. Natal. BR
  • Luchessi, André Ducati; Department of Clinical and Toxicological Analyses, Federal University of Rio Grande do Norte. Natal. BR
  • Araújo, Jéssica Nayara Góes de; Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte. Natal. BR
  • Naslavsky, Michel Satya; Human Genome and Stem-Cell Research Center, Biosciences Institute, University of São Paulo. São Paulo. BR
  • Yu Ting Wang, Jaqueline; Human Genome and Stem-Cell Research Center, Biosciences Institute, University of São Paulo. São Paulo. BR
  • Kronenberger, Thales; Department of Internal Medicine VIII, University Hospital Tübingen. Tübingen. DE
  • Cerda, Alvaro; Center of Excellence in Translational Medicine, BIOREN, Department of Basic Sciences, Universidad de La Frontera. Temuco. CL
  • Lin-Wang, Hui Tzu; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Garofalo, Adriana Regina; Institute Dante Pazzanese of Cardiology. São Paulo. BR
  • Fajardo, Cristina Moreno; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Hirata, Rosario Dominguez Crespo; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
  • Hirata, Mario Hiroyuki; School of Pharmaceutical Sciences, University of São Paulo. São Paulo. BR
Res. soc. adm. pharm ; 17(7): 1347-1355, July. 2021. graf.
Artigo em Inglês | CONASS, Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1283429
Biblioteca responsável: BR79.1
ABSTRACT

BACKGROUND:

Familial hypercholesterolemia (FH) is a genetic disease that affects millions of people worldwide.

OBJECTIVES:

The study protocol FHBGEP was design to investigate the main genomic, epigenomic, and pharmacogenomic factors associated with FH and polygenic hypercholesterolemia (PH).

METHODS:

FH patients will be enrolled at six research centers in Brazil. An exon-targeted gene strategy will be used to sequence a panel of 84 genes related to FH, PH, pharmacogenomics and coronary artery disease. Variants in coding and regulatory regions will be identified using a proposed variant discovery pipeline and classified according to the American College Medical Genetics guidelines. Functional effects of variants in FH-related genes will be investigated by in vitro studies using lymphocytes and cell lines (HepG2, HUVEC and HEK293FT), CRISPR/Cas9 mutagenesis, luciferase reporter assay and other technologies. Functional studies in silico, such as molecular docking, molecular dynamics, and conformational analysis, will be used to explore the impact of novel variants on protein structure and function. DNA methylation profile and differential expression of circulating non-coding RNAs (miRNAs and lncRNAs) will be analyzed in FH patients and normolipidemic subjects (control group). The influence of genomic and epigenomic factors on metabolic and inflammatory status will be analyzed in FH patients. Pharmacogenomic studies will be conducted to investigate the influence of genomic and epigenomic factors on response to statins in FH patients.

SUMMARY:

The FHBGEP protocol has the potential to elucidate the genetic basis and molecular mechanisms involved in the pathophysiology of FH and PH, particularly in the Brazilian population. This pioneering approach includes genomic, epigenomic and functional studies, which results will contribute to the improvement of the diagnosis, prognosis and personalized therapy of FH patients.
Assuntos
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Coleções: Bases de dados nacionais / Brasil Base de dados: CONASS / Sec. Est. Saúde SP / SESSP-IDPCPROD Assunto principal: Farmacogenética / Doença da Artéria Coronariana / Epigenômica / Genes / Hipercolesterolemia Tipo de estudo: Guia de prática clínica / Estudo prognóstico Idioma: Inglês Revista: Res. soc. adm. pharm Ano de publicação: 2021 Tipo de documento: Artigo Instituição/País de afiliação: Center of Excellence in Translational Medicine, BIOREN, Department of Basic Sciences, Universidad de La Frontera/CL / Cruzeiro do Sul University/BR / Department of Clinical and Toxicological Analyses, Federal University of Rio Grande do Norte/BR / Department of Internal Medicine VIII, University Hospital Tübingen/DE / Faculty of Pharmaceutical Sciences, University of Campinas/BR / Heart Institute, University of São Paulo/BR / Human Genome and Stem-Cell Research Center, Biosciences Institute, University of São Paulo/BR / Institute Dante Pazzanese of Cardiology/BR / Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte/BR / Real e Benemerita Associação Portuguesa de Beneficiência/BR
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Coleções: Bases de dados nacionais / Brasil Base de dados: CONASS / Sec. Est. Saúde SP / SESSP-IDPCPROD Assunto principal: Farmacogenética / Doença da Artéria Coronariana / Epigenômica / Genes / Hipercolesterolemia Tipo de estudo: Guia de prática clínica / Estudo prognóstico Idioma: Inglês Revista: Res. soc. adm. pharm Ano de publicação: 2021 Tipo de documento: Artigo Instituição/País de afiliação: Center of Excellence in Translational Medicine, BIOREN, Department of Basic Sciences, Universidad de La Frontera/CL / Cruzeiro do Sul University/BR / Department of Clinical and Toxicological Analyses, Federal University of Rio Grande do Norte/BR / Department of Internal Medicine VIII, University Hospital Tübingen/DE / Faculty of Pharmaceutical Sciences, University of Campinas/BR / Heart Institute, University of São Paulo/BR / Human Genome and Stem-Cell Research Center, Biosciences Institute, University of São Paulo/BR / Institute Dante Pazzanese of Cardiology/BR / Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte/BR / Real e Benemerita Associação Portuguesa de Beneficiência/BR
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