Kuodza George E, Kawai Ray, LaSalle Janine M
Department of Medical Microbiology and Immunology, Perinatal Origins of Disparities Center, MIND Institute, Genome Center, Environmental Health Sciences Center, University of California Davis, Davis, CA 95616, United States.
Environ Epigenet. 2024 Nov 7;10(1):dvae023. doi: 10.1093/eep/dvae023. eCollection 2024.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by a broad range of symptoms. The etiology of ASD is thought to involve complex gene-environment interactions, which are crucial to understanding its various causes and symptoms. DNA methylation is an epigenetic mechanism that potentially links genetic predispositions to environmental factors in the development of ASD. This review provides a global perspective on ASD, focusing on how DNA methylation studies may reveal gene-environment interactions characteristic of specific geographical regions. It delves into the role of DNA methylation in influencing the causes and prevalence of ASD in regions where environmental influences vary significantly. We also address potential explanations for the high ASD prevalence in North America, considering lifestyle factors, environmental toxins, and diagnostic considerations. Asian and European studies offer insights into endocrine-disrupting compounds, persistent organic pollutants, maternal smoking, and their associations with DNA methylation alterations in ASD. In areas with limited data on DNA methylation and ASD, such as Africa, Oceania, and South America, we discuss prevalent environmental factors based on epidemiological studies. Additionally, the review integrates global and country-specific prevalence data from various studies, providing a comprehensive picture of the variables influencing ASD diagnoses over region and year of assessment. This prevalence data, coupled with regional environmental variables and DNA methylation studies, provides a perspective on the complexities of ASD research. Integrating global prevalence data, we underscore the need for a comprehensive global understanding of ASD's complex etiology. Expanded research into epigenetic mechanisms of ASD is needed, particularly in underrepresented populations and locations, to enhance biomarker development for diagnosis and intervention strategies for ASD that reflect the varied environmental and genetic landscapes worldwide.
自闭症谱系障碍(ASD)是一种复杂的神经发育障碍,其特征是症状范围广泛。ASD的病因被认为涉及复杂的基因-环境相互作用,这对于理解其各种病因和症状至关重要。DNA甲基化是一种表观遗传机制,可能在ASD的发展中将遗传易感性与环境因素联系起来。本综述提供了关于ASD的全球视角,重点关注DNA甲基化研究如何揭示特定地理区域特有的基因-环境相互作用。它深入探讨了DNA甲基化在环境影响差异显著的地区对ASD病因和患病率的影响作用。我们还探讨了北美ASD患病率高的潜在原因,考虑了生活方式因素、环境毒素和诊断因素。亚洲和欧洲的研究提供了关于内分泌干扰化合物、持久性有机污染物、母亲吸烟及其与ASD中DNA甲基化改变的关联的见解。在非洲、大洋洲和南美洲等DNA甲基化与ASD数据有限的地区,我们根据流行病学研究讨论了普遍存在的环境因素。此外,本综述整合了来自各种研究的全球和特定国家的患病率数据,全面呈现了影响不同地区和评估年份ASD诊断的变量情况。这些患病率数据,加上区域环境变量和DNA甲基化研究,为ASD研究的复杂性提供了一个视角。通过整合全球患病率数据,我们强调需要对ASD的复杂病因有全面的全球理解。需要扩大对ASD表观遗传机制的研究,特别是在代表性不足的人群和地区,以加强生物标志物开发,用于ASD的诊断和干预策略,这些策略应反映全球不同的环境和遗传情况。