Department of Clinical & Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, 05508-000, Brazil.
Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo, 04012-909, Brazil.
Epigenomics. 2024;16(11-12):809-820. doi: 10.1080/17501911.2024.2351792. Epub 2024 Jun 17.
Methylation of , and CpG sites was assessed in patients with familial hypercholesterolemia (FH). DNA methylation of was analyzed by pyrosequencing in 131 FH patients and 23 normolipidemic (NL) subjects. , and methylation was similar between FH patients positive (MD) and negative (non-MD) for pathogenic variants in FH-related genes. and methylation was higher in MD and non-MD groups than NL subjects ( < 0.05). , and methylation profiles were associated with clinical manifestations and cardiovascular events in FH patients ( < 0.05). Differential methylation of , and is associated with hypercholesterolemia and cardiovascular events. This methylation profile maybe useful as a biomarker and contribute to the management of FH.
对家族性高胆固醇血症（FH）患者的 、 和 CpG 位点的甲基化进行了评估。通过焦磷酸测序分析了 131 例 FH 患者和 23 例血脂正常（NL）患者的 DNA 甲基化。FH 相关基因突变阳性（MD）和阴性（非-MD）患者的 、 和 甲基化相似。MD 和非-MD 组的 和 甲基化高于 NL 组（<0.05）。FH 患者的 、 和 甲基化谱与临床表现和心血管事件相关（<0.05）。 、 和 的差异甲基化与高胆固醇血症和心血管事件有关。这种甲基化谱可能作为生物标志物有用，并有助于 FH 的管理。
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