The female protective effect in autism spectrum disorder is not mediated by a single genetic locus
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BACKGROUND: A 4:1 male to female sex bias has consistently been observed in autism spectrum disorder (ASD). Epidemiological and genetic studies suggest a female protective effect (FPE) may account for part of this bias; however, the mechanism of such protection is unknown. Quantitative assessment of ASD symptoms using the Social Responsiveness Scale (SRS) shows a bimodal distribution unique to females in multiplex families. This leads to the hypothesis that a single, common genetic locus on chromosome X might mediate the FPE and produce the ASD sex bias. Such a locus would represent a major therapeutic target and is likely to have been missed by conventional genome-wide association study (GWAS) analysis. METHODS: To explore this possibility, we performed an association study in affected versus unaffected females, considering three tiers of single nucleotide polymorphisms (SNPs) as follows: 1) regions of chromosome X that escape X-inactivation, 2) all of chromosome X, and 3) genome-wide. RESULTS: No evidence of a SNP meeting the criteria for a single FPE locus was observed, despite the analysis being well powered to detect this effect. CONCLUSIONS: The results do not support the hypothesis that the FPE is mediated by a single genetic locus; however, this does not exclude the possibility of multiple genetic loci playing a role in the FPE.
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Girls who are diagnosed with ASD carry significantly more genetic load than boys.
“Girls who are diagnosed with ASD carry significantly more genetic load than boys (35), suggesting adaptive mechanisms such as the ability to effectively mask ASD symptoms (36).”
From Where Sex Meets Gender: How Sex and Gender Come Together to Cause Sex Differences in Mental Illness (2022) · cites this paper as [35]
The Discussion reports that studies observed a higher de novo mutation burden in females with ASD than in males with ASD. It does not establish that girls have a significantly higher overall genetic load; the reported comparison concerns de novo mutations specifically, and the passage gives no statistical significance for it. (LLM, conf=0.82)
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Autism in Lebanon: Looking Back to Inform the Future
Habanjar, D., Khalife, S., Haddad, L., Jaafar, F., Charouf, D., Sheikh, W. G. E., Tamim, H., & Boustany, R. (2024) · International Journal of Autism & Related Disabilities · doi:10.29011/2642-3227.100069
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- Authors
- Gockley, J., Willsey, A. J., Dong, S., Dougherty, J. D., Constantino, J. N., & Sanders, S. J.
- Affiliations
- Yale University (US)
- University of California, San Francisco (US)
- Peking University (CN)
- Washington University in St. Louis (US)
- Corresponding author
- Constantino, John N
- Sanders, Stephan J
- ORCID
- Venue
- Molecular Autism
- Published
- 2015-05-13
- Volume
- 6
- Issue
- 1
- Pages
- 25-25
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC4429476
- OpenAlex
- W2147238304
- Cited by
- 61
- References
- 34
- Citations by year
- 2026: 3 · 2024: 5 · 2023: 7 · 2022: 8 · 2021: 5 · 2020: 5 · 2019: 3 · 2018: 6 · 2017: 6 · 2016: 8 · 2015: 5
- FWCI
- 5.01
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Autism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Autism Speaks
- Simons Foundation (307705)
- Simons Foundation Autism Research Initiative
- National Institutes of Health (HD062171)
- Intellectual and Developmental Disabilities Research Center (NIH/NICHD P30 HD062171, P30 HD062171)
- Canadian Institutes of Health Research
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 042541, R01HD042541, P30HD062171, T32HD007149)
- Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine in St. Louis (P30 HD062171)
- 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, sex bias, X chromosome, X-inactivation escape, single nucleotide polymorphisms, multiplex families, Social Responsiveness Scale, genetic loci
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