Ciaccio Anna Maria, Tuttolomondo Antonino
Internal Medicine & Stroke Care Ward, PROMISE Department, University of Palermo, Piazza delle Cliniche n.2, 90127, Palermo, Italy.
Epigenomics. 2024;16(14):1043-1055. doi: 10.1080/17501911.2024.2377947. Epub 2024 Jul 29.
Cerebrovascular diseases, especially stroke, are critical and heterogenous clinical conditions associated with high mortality and chronic disability. Genome-wide association studies reveal substantial stroke heritability, though specific genetic variants account for a minor fraction of stroke risk, suggesting an essential role for the epigenome. Epigenome-wide association studies and candidate gene approaches show that DNA methylation patterns significantly influence stroke susceptibility. Additionally, chromatin remodelers and non-coding RNA regulate gene expression in response to ischemic conditions. In this updated review, we summarized the progress of knowledge on epigenetics in the field of ischemic stroke underlying opportunities and challenges.
脑血管疾病，尤其是中风，是严重且异质性的临床病症，与高死亡率和慢性残疾相关。全基因组关联研究揭示了中风的显著遗传力，尽管特定的基因变异仅占中风风险的一小部分，这表明表观基因组起着至关重要的作用。全表观基因组关联研究和候选基因方法表明，DNA甲基化模式显著影响中风易感性。此外，染色质重塑因子和非编码RNA可响应缺血状况调节基因表达。在这篇更新的综述中，我们总结了缺血性中风领域表观遗传学知识的进展、潜在机遇和挑战。
