A PheWAS Model of Autism Spectrum Disorder

John Matta, Daniel Dobrino, Swade Howard, Dacosta Yeboah, Jonathan Kopel, Yasser El-Manzalawy, Tayo Obafemi-Ajayi

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Title of host publication43rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBC 2021
PublisherInstitute of Electrical and Electronics Engineers Inc.
Pages2110-2114
Number of pages5
ISBN (Electronic)9781728111797
DOIs
StatePublished - 2021
Event43rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBC 2021 - Virtual, Online, Mexico
Duration: Nov 1 2021Nov 5 2021

Publication series

NameProceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS
ISSN (Print)1557-170X

Conference

Conference43rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBC 2021
Country/TerritoryMexico
CityVirtual, Online
Period11/1/2111/5/21

All Science Journal Classification (ASJC) codes

  • Signal Processing
  • Biomedical Engineering
  • Computer Vision and Pattern Recognition
  • Health Informatics

Fingerprint

Dive into the research topics of 'A PheWAS Model of Autism Spectrum Disorder'. Together they form a unique fingerprint.

Cite this