自闭症谱系障碍
表型
自闭症
单核苷酸多态性
遗传异质性
认知
心理学
SNP公司
遗传学
基因型
生物
基因
发展心理学
精神科
作者
John Matta,Daniel Dobrino,Swade Howard,Dacosta Yeboah,Jonathan Kopel,Yasser EL-Manzalawy,Tayo Obafemi-Ajayi
标识
DOI:10.1109/embc46164.2021.9629533
摘要
Children with Autism Spectrum Disorder (ASD) exhibit a wide diversity in type, number, and severity of social deficits as well as communicative and cognitive difficulties. It is a challenge to categorize the phenotypes of a particular ASD patient with their unique genetic variants. There is a need for a better understanding of the connections between genotype information and the phenotypes to sort out the heterogeneity of ASD. In this study, single nucleotide polymorphism (SNP) and phenotype data obtained from a simplex ASD sample are combined using a PheWAS-inspired approach to construct a phenotype-phenotype network. The network is clustered, yielding groups of etiologically related phenotypes. These clusters are analyzed to identify relevant genes associated with each set of phenotypes. The results identified multiple discriminant SNPs associated with varied phenotype clusters such as ASD aberrant behavior (self-injury, compulsiveness and hyperactivity), as well as IQ and language skills. Overall, these SNPs were linked to 22 significant genes. An extensive literature search revealed that eight of these are known to have strong evidence of association with ASD. The others have been linked to related disorders such as mental conditions, cognition, and social functioning.Clinical relevance— This study further informs on connections between certain groups of ASD phenotypes and their unique genetic variants. Such insight regarding the heterogeneity of ASD would support clinicians to advance more tailored interventions and improve outcomes for ASD patients.
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