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Marcal, Elisangela da Silva Rodrigues ; Borges, Jessica Bassani ; Bastos, Gisele Medeiros ; Hirata, Thiago Dominguez Crespo ; de Oliveira, Victor Fernandes ; Goncalves, Rodrigo Marques ; Faludi, Andre Arpad ; Franca, Joao Italo Dias ; Silva, Daiana Vitor de Oliveira ; Malaquias, Vanessa Barbosa ; Luchessi, Andre Ducati ; Silbiger, Vivian Nogueira ; Nakazone, Marcelo Arruda ; Carmo, Tayanne Silva ; Silva Souza, Doroteia Rossi ; Sampaio, Marcelo Ferraz ; Hirata, Rosario Dominguez Crespo ; Hirata, Mario Hiroyuki

• Tipo de documento: Artigo Científico
• Fonte: Epigenomics; v. 16, n. 11-12, p. 12-pg., 2024-06-14.

Resumo

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. (AU)

• Processo FAPESP: 16/12899-6 - Caracterização genômica, epigenômica e farmacogenômica de portadores de hipercolesterolemia familial na população brasileira
• Beneficiário: Mario Hiroyuki Hirata
• Modalidade de apoio: Auxílio à Pesquisa - Temático