Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia.

IF 3 4区医学 Q2 GENETICS & HEREDITY Epigenomics Pub Date : 2024-01-01 Epub Date: 2024-06-17 DOI:10.1080/17501911.2024.2351792

Elisangela da Silva Rodrigues Marçal, Jéssica Bassani Borges, Gisele Medeiros Bastos, Thiago Dominguez Crespo Hirata, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, João Italo Dias França, Daiana Vitor de Oliveira Silva, Vanessa Barbosa Malaquias, Andre Ducati Luchessi, Vivian Nogueira Silbiger, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata

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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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LDLR、PCSK9 和 LDLRAP1 的甲基化状态与家族性高胆固醇血症的心血管事件有关。

目的：评估家族性高胆固醇血症（FH）患者的 LDLR、PCSK9 和 LDLRAP1 CpG 位点的甲基化情况。方法通过热测序分析 131 名 FH 患者和 23 名血脂正常（NL）受试者的 DNA 甲基化情况。结果显示在 FH 相关基因致病变异阳性（MD）和阴性（非 MD）的 FH 患者之间，LDLR、PCSK9 和 LDLRP1 的甲基化情况相似。MD 组和非 MD 组的 LDLR 和 PCSK9 甲基化程度高于 NL 组（p LDLR、PCSK9 和 LDLRAP1 甲基化谱与 FH 患者的临床表现和心血管事件有关（p 结论：LDLR、PCSK9 和 LDLRAP1 的差异甲基化与高胆固醇血症和心血管事件有关。这种甲基化特征可作为一种生物标志物，有助于FH的治疗。

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来源期刊

Epigenomics GENETICS & HEREDITY-

CiteScore

5.80

自引率

2.60%

发文量

审稿时长

>12 weeks

期刊介绍： Epigenomics provides the forum to address the rapidly progressing research developments in this ever-expanding field; to report on the major challenges ahead and critical advances that are propelling the science forward. The journal delivers this information in concise, at-a-glance article formats – invaluable to a time constrained community. Substantial developments in our current knowledge and understanding of genomics and epigenetics are constantly being made, yet this field is still in its infancy. Epigenomics provides a critical overview of the latest and most significant advances as they unfold and explores their potential application in the clinical setting.