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Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia.
Silva Rodrigues Marçal, Elisangela da; Borges, Jéssica Bassani; Bastos, Gisele Medeiros; Crespo Hirata, Thiago Dominguez; de Oliveira, Victor Fernandes; Gonçalves, Rodrigo Marques; Faludi, Andre Arpad; Dias França, João Italo; de Oliveira Silva, Daiana Vitor; Malaquias, Vanessa Barbosa; Luchessi, Andre Ducati; Silbiger, Vivian Nogueira; Nakazone, Marcelo Arruda; Carmo, Tayanne Silva; Silva Souza, Dorotéia Rossi; Sampaio, Marcelo Ferraz; Crespo Hirata, Rosario Dominguez; Hirata, Mario Hiroyuki.
Afiliação
  • Silva Rodrigues Marçal ED; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
  • Borges JB; Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo, 04012-909, Brazil.
  • Bastos GM; Department of Research, Hospital Beneficiencia Portuguesa de Sao Paulo, Sao Paulo, 01323-001, Brazil.
  • Crespo Hirata TD; Department of Research, Hospital Beneficiencia Portuguesa de Sao Paulo, Sao Paulo, 01323-001, Brazil.
  • de Oliveira VF; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
  • Gonçalves RM; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
  • Faludi AA; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo, 04012-909, Brazil.
  • Dias França JI; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo, 04012-909, Brazil.
  • de Oliveira Silva DV; Center for Clinical Trials & Pharmacovigilance, Butantan Institute, Sao Paulo, 05585-000, Brazil.
  • Malaquias VB; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
  • Luchessi AD; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
  • Silbiger VN; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, Federal University of Rio Grande do Norte, Natal, 59012-570, Brazil.
  • Nakazone MA; Graduate Program in Pharmaceutical Sciences, Federal University of Rio Grande do Norte, Natal, 59012-570, Brazil.
  • Carmo TS; Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, Federal University of Rio Grande do Norte, Natal, 59012-570, Brazil.
  • Silva Souza DR; Graduate Program in Pharmaceutical Sciences, Federal University of Rio Grande do Norte, Natal, 59012-570, Brazil.
  • Sampaio MF; Department of Cardiology & Cardiovascular Surgery, Sao Jose do Rio Preto Medical School, Sao Jose do Rio Preto, 15090-000, Brazil.
  • Crespo Hirata RD; Department of Biochemistry & Molecular Biology, Sao Jose do Rio Preto Medical School, Sao Jose do Rio Preto, 15090-000, Brazil.
  • Hirata MH; Department of Biochemistry & Molecular Biology, Sao Jose do Rio Preto Medical School, Sao Jose do Rio Preto, 15090-000, Brazil.
Epigenomics ; 16(11-12): 809-820, 2024.
Article em En | MEDLINE | ID: mdl-38884343
ABSTRACT

Aim:

Methylation of LDLR, PCSK9 and LDLRAP1 CpG sites was assessed in patients with familial hypercholesterolemia (FH).

Methods:

DNA methylation of was analyzed by pyrosequencing in 131 FH patients and 23 normolipidemic (NL) subjects.

Results:

  LDLR, PCSK9 and LDLRP1 methylation was similar between FH patients positive (MD) and negative (non-MD) for pathogenic variants in FH-related genes. LDLR and PCSK9 methylation was higher in MD and non-MD groups than NL subjects (p < 0.05). LDLR, PCSK9 and LDLRAP1 methylation profiles were associated with clinical manifestations and cardiovascular events in FH patients (p < 0.05).

Conclusion:

Differential methylation of LDLR, PCSK9 and LDLRAP1 is associated with hypercholesterolemia and cardiovascular events. This methylation profile maybe useful as a biomarker and contribute to the management of FH.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de LDL / Metilação de DNA / Proteína Associada a Proteínas Relacionadas a Receptor de LDL / Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Epigenomics Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de LDL / Metilação de DNA / Proteína Associada a Proteínas Relacionadas a Receptor de LDL / Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Epigenomics Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil