Chinese Control Sample Collection for Genetic Studies of Autism Spectrum Disorder

Background:  Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive behaviors and restricted activities. Family and twin studies of ASD showed that genetic factors contribute to the etiology of ASD. 

Objectives:  To promote the genetic studies of ASD in Chinese population, we collected blood samples and personal information from typically developed Chinese adults.

Methods:  Sample collection was approved by international review board. Informed consent was obtained from each participant before sample collection. We collected personal information of each participant from three aspects. Firstly, we collected their basic information including gender, age, born city, ethnic group, and education level. Secondly, we collected the history of ASD and other neurological and psychiatric disorders (such as intellectual disability, schizophrenia and depressive disorder) of all the participants and their relatives including their children, parents, siblings, and second and third degree relatives. Thirdly, broader autism phenotype of each participant was evaluated using autism spectrum quotient(AQ), which is a widely used self-report questionnaire used to quantify autistic traits of adults with average intelligence. The Chinese version of AQ has 35 items and was generated using data from Taiwanese (Lau, W. Y., et al. (2013)).

Results:  In total, we collected 10 ml whole blood from 776 males and 261 females. The ratio of males to females is 2.96:1. Their ages ranged from 18 to 59 years, with an average of 29.67. Participants were from 21 provinces, 3 municipalities, and 4 autonomous regions. 53.62% of participants were from north of China. Percentages of participants whose own bachelor’s degree or high school diploma, respectively, were 21.60% and 32.01%. Both were higher than the levels from nationwide survey. 92.2% of participants were from Han ethnic group. For 9.45% of participants, they or their relatives were diagnosed with or suspected of neurological and/or psychiatric disorders. The total AQ scores of males (77.52645 ± 9.458683) were higher than that of females (76.1341 ± 9.656864) ( two sided t-test, p-value=0.04), which was consistent with previous studies. 

Conclusions: We collected control blood samples from typically developed Chinese adults with detailed personal information, which will greatly contribute to the genetic studies of ASD in China.