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The female protective effect against autism spectrum disorder
Emilie M Wigdor1,2, Daniel J Weiner1,3, Jakob Grove4,5,6,7
1Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cell Genomics
|February 13, 2023
Summary
Autism spectrum disorder (ASD) shows a female protective effect (FPE) against common genetic risks. This study found that siblings of female ASD cases had higher ASD rates, supporting FPE in inherited influences.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Human Biology
Background:
- Autism spectrum disorder (ASD) is diagnosed more frequently in males than females.
- Existing research suggests a female protective effect (FPE) against ASD, primarily from rare variant studies.
- Sex differences in common inherited genetic risk for ASD, especially within families, remain less understood.
Purpose of the Study:
- To investigate sex differences in common inherited genetic risk for ASD.
- To explore the female protective effect (FPE) against ASD using both epidemiological and genetic data.
- To analyze genetic risk patterns within families affected by ASD.
Main Methods:
- Utilized the Danish iPSYCH resource to compare ASD rates in siblings of female versus male ASD cases.
- Analyzed polygenic risk scores (PRS) in mothers and fathers of ASD cases from Simons Simplex and SPARK collections.
- Examined polygenic risk inheritance in unaffected male siblings of ASD cases.
Main Results:
- Siblings of female ASD cases exhibited significantly higher ASD rates compared to siblings of male ASD cases (p < 1.0 × 10-10).
- Mothers of ASD cases carried higher polygenic risk for ASD than fathers (0.08 PRS SD; p = 7.0 × 10-7).
- Unaffected male siblings of ASD cases showed under-inheritance of polygenic risk (p = 0.03), further supporting FPE.
Conclusions:
- Findings provide strong evidence for a female protective effect (FPE) against common inherited influences contributing to ASD.
- The study highlights significant sex differences in the genetic architecture of ASD risk.
- Epidemiological and genetic data converge to support FPE in ASD.
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