The Nethersole School of Nursing, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Asia-Pacific Genomic and Genetic Nursing Centre, The Nethersole School of Nursing, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Genes (Basel). 2024 Aug 15;15(8):1082. doi: 10.3390/genes15081082.
Autistic spectrum disorder (ASD) is a neurodevelopmental disability characterised by the impairment of social interaction and communication ability. The alarming increase in its prevalence in children urged researchers to obtain a better understanding of the causes of this disease. Genetic factors are considered to be crucial, as ASD has a tendency to run in families. In recent years, with technological advances, the importance of structural variations (SVs) in ASD began to emerge. Most of these studies, however, focus on the Caucasian population. As a populated ethnicity, ASD shall be a significant health issue in China. This systematic review aims to summarise current case-control studies of SVs associated with ASD in the Chinese population. A list of genes identified in the nine included studies is provided. It also reveals that similar research focusing on other genetic backgrounds is demanded to manifest the disease etiology in different ethnic groups, and assist the development of accurate ethnic-oriented genetic diagnosis.
自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社交互动和沟通能力受损。儿童中自闭症患病率的惊人增长促使研究人员更好地了解这种疾病的病因。遗传因素被认为是至关重要的，因为自闭症有家族遗传倾向。近年来，随着技术的进步，结构变异（SVs）在 ASD 中的重要性开始显现。然而，这些研究大多集中在白种人群体。作为一个人口众多的种族，自闭症在中国将是一个重大的健康问题。本系统综述旨在总结中国人群中与 ASD 相关的 SVs 的病例对照研究。提供了在 9 项纳入研究中确定的基因列表。它还表明，需要针对其他遗传背景进行类似的研究，以在不同的种族群体中表现出疾病的病因，并有助于制定针对特定种族的准确遗传诊断。
