Family-based genome-wide association study of autism spectrum disorder in middle eastern families
Open accessAbstract
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 × 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.
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Many high-impact variants are pleiotropic, conferring risk for ASD as well as intellectual disability, epilepsy, and other neurodevelopmental or psychiatric conditions.
“Large-scale genomic studies show that many high-impact variants are pleiotropic, conferring risk for ASD as well as intellectual disability (ID), epilepsy, and other neurodevelopmental or psychiatric conditions (Al-Sarraj et al., 2021).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Al-Sarraj et al., 2021
The Discussion (section 4; page unavailable) links genes implicated in ASD to intellectual disability, epileptic encephalopathy, and other neurodevelopmental or neuropsychiatric disorders. The Conclusions (section 5; page unavailable) also describe genetic architecture shared with other neurodevelopmental disorders. But the paper does not establish that many of the same high-impact variants confer risk across those conditions; its own association findings concern common SNPs with suggestive significance. (LLM, conf=0.86)
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- Authors
- Al-Sarraj, Y., Al-Dous, E., Taha, R. Z., Ahram, D., Alshaban, F., Tolfat, M., El-Shanti, H., & Albagha, O. M. E.
- Affiliations
- Hamad bin Khalifa University (QA)
- College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar
- Columbia University Irving Medical Center (US)
- Shafallah Center (QA)
- Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha 34110, Qatar
- Corresponding author
- Albagha, Omar M.E.
- Venue
- Genes
- Publisher
- MDPI AG
- Published
- 2021-05-18
- Volume
- 12
- Issue
- 5
- Pages
- 761
- ISSN
- 2073-4425 (ISSN-L)
- PMC
- PMC8157263
- OpenAlex
- W3160256012
- Cited by
- 17
- References
- 73
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 4
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Genes (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- Hamad Bin Khalifa University
- Khalifa University of Science, Technology and Research
- Qatar Biomedical Research Institute, Hamad Bin Khalifa University
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, genetic susceptibility, Middle Eastern populations, Qatar, single nucleotide polymorphisms, GABBR2, ERCC6L, HDAC8, gene expression, neurodevelopmental disorders
- MeSH terms
- Autism Spectrum Disorder, Adult, Child, Female, Humans, Male, Middle East, Gene Expression, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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