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Cited by 59Autism Spectrum Disorder ResearchGenetic Associations and EpidemiologyObsessive-Compulsive Spectrum Disorders

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W., Samuels, J.F., Wang, Y., Cao, H., Ritter, M., Nestadt, P.S., Krasnow, J., Greenberg, B.D. +24 more·2017·European Neuropsychopharmacology
DOI 10.1016/j.euroneuro.2017.03.011
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Abstract

Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10-7 in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and across the two disorders. These analyses identified a significant polygenic component of ASD, predicting 0.11% of the phenotypic variance in an independent OCD data set. In addition, we examined the genomic architecture of ASD and OCD by estimating heritability on different chromosomes and different allele frequencies, analyzing genome-wide common variant data by using the Genome-wide Complex Trait Analysis (GCTA) program. The estimated global heritability of OCD is 0.427 (se=0.093) and 0.174 (se=0.053) for ASD in these imputed data.

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  • The same genetic risk factors can underlie many diagnoses, from autism spectrum disorder to schizophrenia.

    “Furthermore, a common source may drive such comorbidity; for example, the same genetic risk factors can underlie many diagnoses (4,15,16)—from autism spectrum disorder (ASD) to schizo- phrenia.”

    From Methods and challenges for assessing heterogeneity (2020) · cites this paper as [15]

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Authors
Guo, W., Samuels, J. F., Wang, Y., Cao, H., Ritter, M., Nestadt, P. S., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., Riddle, M. A., Rasmussen, S. A., McLaughlin, N. C., Nurmi, E. L., Askland, K. D., Cullen, B. A., Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G., & Shugart, Y. Y.
Affiliations
  • National Institutes of Health (US)
  • Johns Hopkins University (US)
  • Brown University (US)
  • New York State Psychiatric Institute (US)
  • University of California, Los Angeles (US)
  • Harvard University (US)
  • National Institute of Mental Health (US)
  • University of Southern California (US)
  • University of British Columbia (CA)
  • University of Bonn (DE)
Corresponding author
Shugart, Y.Y.
ORCID
Venue
European Neuropsychopharmacology
Publisher
Elsevier BV
Published
2017-07
Volume
27
Issue
7
Pages
657-666
ISSN
0924-977X (ISSN-L)
DOI
10.1016/j.euroneuro.2017.03.011
OpenAlex
W2698990478
Cited by
59
References
52
Citations by year
2026: 5 · 2025: 7 · 2024: 4 · 2023: 4 · 2022: 8 · 2021: 8 · 2020: 6 · 2019: 10 · 2018: 6 · 2017: 1
FWCI
3.61
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • European Neuropsychopharmacology (publishedVersion)
  • PubMed (publishedVersion)
  • Scopus (Elsevier) (submittedVersion)
Funders
  • IRP-NIMH-NIH (MH002930-05)
  • NIMH (MH071507, MH079489, MH079487, MH079488, MH079494)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
Keywords
autism spectrum disorder, obsessive-compulsive disorder, polygenic risk score, heritability, genome-wide association study, chromosome 16, brain gene expression, nuclear family, case-parent trios, common genetic variants, genome organization
MeSH terms
Autism Spectrum Disorder, Humans, Obsessive-Compulsive Disorder, Risk Factors, Quantitative Trait, Heritable, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Databases, Genetic, Genome-Wide Association Study

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