Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort
Open accessAbstract
This study is the first genetically-informed investigation of avoidant/restrictive food intake disorder (ARFID), an eating disorder that profoundly impacts quality of life for those affected. ARFID is highly comorbid with autism, and we provide the first estimate of its prevalence in a large and phenotypically diverse autism cohort (a subsample of the SPARK study,N= 5,157 probands). This estimate, 21% (at a balanced accuracy 80%), is at the upper end of previous estimates from studies based on clinical samples, suggesting under-diagnosis and potentially lack of awareness among caretakers and clinicians. Although some studies suggest a decrease of disordered eating symptoms by age 6, our estimates indicate that up to 17% (at a balanced accuracy 87%) of parents of autistic children are also at heightened risk for ARFID, suggesting a lifelong risk for disordered eating. We were also able to provide the first estimates of narrow-sense heritability (h 2) for ARFID risk, at 0.45. Genome-wide association revealed a single hit near ZSWIM6, a gene previously implicated in neurodevelopmental conditions. While, the current sample was not well-powered for GWAS, effect size and heritability estimates allowed us to project the sample sizes necessary to more robustly discover ARFID-linked loci via common variants. Further genetic analysis using polygenic risk scores (PRS) affirmed genetic links to autism as well as neuroticism and metabolic syndrome.
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Koomar et al. found one genome-wide significant single nucleotide polymorphism on chromosome 5 near ZSWIM6, a gene previously implicated in neurodevelopmental conditions.
“The study found one genome-wide significant single nucleotide polymorphism on chromosome 5 near the gene ZSWIM6. This gene has been previously implicated in neurodevelopmental conditions like cognitive impairment and schizophrenia [26].”
From Unraveling the Connections: Eating Issues, Microbiome, and Gastrointestinal Symptoms in Autism Spectrum Disorder (2025) · cites this paper as [26]
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- Authors
- Koomar, T., Thomas, T. R., Pottschmidt, N. R., Lutter, M., & Michaelson, J. J.
- Affiliations
- University of Iowa (US)
- Pennsylvania State University (US)
- Corresponding author
- Michaelson, Jacob J.
- Venue
- Frontiers in Psychiatry
- Publisher
- Frontiers Media SA
- Published
- 2021-06-09
- Volume
- 12
- Pages
- 668297-668297
- ISSN
- 1664-0640 (ISSN-L)
- PMC
- PMC8221394
- OpenAlex
- W3169410997
- Cited by
- 92
- References
- 69
- Citations by year
- 2026: 12 · 2025: 20 · 2024: 28 · 2023: 19 · 2022: 10 · 2021: 3
- FWCI
- 10.23
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Aeronautics and Space Administration
- Simons Foundation (516716)
- Iowa Space Grant Consortium
- Simons Foundation Autism Research Initiative
- National Institutes of Health
- National Institute of Mental Health (R01MH105527)
- National Institute on Deafness and Other Communication Disorders (R01DC014489)
- National Institute of General Medical Sciences (T32GM008629)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Eating Disorders and Behaviors
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- avoidant/restrictive food intake disorder, autism spectrum disorder, prevalence, genetic risk, narrow-sense heritability, polygenic risk score, disordered eating, comorbidities, neuroticism, metabolic syndrome, underdiagnosis
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