Journal article
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families
Genes, Vol.12(5), p.761
05/01/2021
DOI: 10.3390/genes12050761
PMCID: PMC8157263
PMID: 34069769
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide association studies (GWAS) have identified multiple loci associated with ASD. However, most studies were performed on European populations and little is known about the genetic architecture of ASD in Middle Eastern populations. Here, we report the first GWAS of ASD in the Middle eastern population of Qatar. We analyzed 171 families with ASD, using linear mixed models adjusting for relatedness and other confounders. Results showed that common single nucleotide polymorphisms (SNP) in seven loci are associated with ASD (p < 1 x 10(-5)). Although the identified loci did not reach genome-wide significance, many of the top associated SNPs are located within or near genes that have been implicated in ASD or related neurodevelopmental disorders. These include GORASP2, GABBR2, ANKS6, THSD4, ERCC6L, ARHGEF6, and HDAC8. Additionally, three of the top associated SNPs were significantly associated with gene expression. We also found evidence of association signals in two previously reported ASD-susceptibility loci (rs10099100 and rs4299400). Our results warrant further functional studies and replication to provide further insights into the genetic architecture of ASD.
Details
- Title: Subtitle
- Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families
- Creators
- Yasser Al-Sarraj - Hamad bin Khalifa UniversityEman Al-Dous - Hamad bin Khalifa UniversityRowaida Z. Taha - Hamad bin Khalifa UniversityDina Ahram - Hamad bin Khalifa UniversityFouad Alshaban - Hamad bin Khalifa UniversityMohammed Tolfat - Shafallah CenterHatem El-Shanti - Hamad bin Khalifa UniversityOmar M. E. Albagha - University of Edinburgh
- Resource Type
- Journal article
- Publication Details
- Genes, Vol.12(5), p.761
- DOI
- 10.3390/genes12050761
- PMID
- 34069769
- PMCID
- PMC8157263
- NLM abbreviation
- Genes (Basel)
- ISSN
- 2073-4425
- eISSN
- 2073-4425
- Publisher
- Mdpi
- Number of pages
- 12
- Grant note
- Hamad Bin Khalifa University college of health and life sciences Qatar Biomedical Research Institute at Hamad Bin Khalifa University
- Language
- English
- Date published
- 05/01/2021
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354146402771
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