Environmental Epigenetics Laboratory, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
Prenat Diagn. 2020 Aug;40(9):1185-1192. doi: 10.1002/pd.5731. Epub 2020 May 21.
Fetal alcohol spectrum disorders (FASD) are a consequence of prenatal alcohol exposure (PAE). The etiology of the complex FASD phenotype with growth deficit, birth defects, and neurodevelopmental impairments is under extensive research. Both genetic and environmental factors contribute to the wide phenotype: chromosomal rearrangements, risk and protective alleles, environmental-induced epigenetic alterations as well as gene-environment interactions are all involved. Understanding the molecular mechanisms of PAE can provide tools for prevention or intervention of the alcohol-induced developmental disorders in the future. By revealing the alcohol-induced genetic and epigenetic alterations which associate with the variable FASD phenotypes, it is possible to identify biomarkers for the disorder. This would enable early diagnoses and personalized support for development of the affected child.
胎儿酒精谱系障碍（FASD）是产前酒精暴露（PAE）的后果。具有生长缺陷、出生缺陷和神经发育障碍的复杂 FASD 表型的病因正在广泛研究中。遗传和环境因素都促成了广泛的表型：染色体重排、风险和保护等位基因、环境诱导的表观遗传改变以及基因-环境相互作用都涉及其中。了解 PAE 的分子机制可以为未来预防或干预酒精引起的发育障碍提供工具。通过揭示与可变的 FASD 表型相关的酒精诱导的遗传和表观遗传改变，可以识别该疾病的生物标志物。这将能够进行早期诊断，并为受影响儿童的发展提供个性化支持。
