A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
Abstract
The promise of precision medicine lies in data diversity. More than the sheer size of biomedical data, it is the layering of multiple data modalities, offering complementary perspectives, that is thought to enable the identification of patient subgroups with shared pathophysiology. In the present study, we use autism to test this notion. By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism.
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Our detection of a 2.5-3-fold increase in individuals with elevated apolipoprotein levels is consistent with a recent study using USA healthcare insurance claims that identified dyslipidemia diagnoses in 6.6% of individuals with ASD treated for primarily hyperlipidemic conditions.
“However, our detection of a 2.5–3-fold increase in individuals with elevated apolipoprotein levels is consistent with a recent study using USA healthcare insurance claims that identified dyslipidemia diagnoses in 6.6% of individuals with ASD treated for primarily hyperlipidemic conditions [65].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [65]
An analysis of dyslipidemia in ASD identified sex-differentially expressed, neurodevelopmentally co-regulated, ASD segregating deleterious variants of LPL.
“Increased plasma LPL activity has been detected in ASD [61] and an analysis of dyslipidemia in ASD identified sex-differentially expressed, neurodevelopmentally co-regulated, ASD segregating deleterious variants of LPL [65].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [65]
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References 48 · Cited by 78
- Authors
- Luo, Y., Eran, A., Palmer, N., Avillach, P., Levy-Moonshine, A., Szolovits, P., & Kohane, I. S.
- Affiliations
- Northwestern University (US)
- Ben-Gurion University of the Negev (IL)
- Harvard University (US)
- Corresponding author
- Kohane, Isaac S.
- Venue
- Nature Medicine
- Published
- 2020-08-10
- Volume
- 26
- Issue
- 9
- Pages
- 1375-1379
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W3047785621
- Semantic Scholar
- 894723212c8fcd03491a00b7e68d08cd3a0b5f8c
- Cited by
- 78
- References
- 48
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 9 · 2023: 17 · 2022: 21 · 2021: 13 · 2020: 1
- FWCI
- 6.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (P50MH106933)
- Boston Children’s Hospital (PrecisionLink)
- Israeli Ministry of Science and Technology grant 17708
- U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (5UL1TR001422, 1U01TR002623-01)
- U.S. Department of Health & Human Services | NIH | U.S. National Library of Medicine (1R21LM012618)
- Aetna
- U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (U01HG007530, U54HG007963)
- U.S. Department of Health & Human Services | NIH | NIH Office of the Director (OT3OD025466)
- U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (OT3HL142480)
- U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD090255 -01)
- NSF | NSF Office of the Director | Office of Diversity and Inclusion (OT3OD025466)
- 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 › Genomics and Rare Diseases
- Keywords
- autism spectrum disorder, autism subtypes, dyslipidemia, lipid dysregulation, precision medicine, multimodal data integration, electronic health records, medical claims, exome sequencing, patient subgroups
- MeSH terms
- Exome Sequencing, Autistic Disorder, Female, Humans, Lipids, Male, Genetic Predisposition to Disease, Molecular Diagnostic Techniques, Dyslipidemias, Precision Medicine, Electronic Health Records, Exome
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