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. 2024 Aug 15;15(8):1082.
doi: 10.3390/genes15081082.

Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies

Sek-Ying Chair  1   2   3 , Ka-Ming Chow  1   2   3 , Cecilia Wai-Ling Chan  1 , Judy Yuet-Wa Chan  1 , Bernard Man-Hin Law  1 , Mary Miu-Yee Waye  1   2   3
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Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies

Sek-Ying Chair et al. Genes (Basel). .

Abstract

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.

Keywords: ASD; CNV; China; Chinese; Han; autism; autism spectrum disorder; copy number variation; genetics; structural variation.

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Conflict of interest statement

The authors declare no conflicts of interest.

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Figure 1
Figure 1
Flow diagram showing the study selection and exclusion process according to PRISMA guidelines.
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