The female protective effect against autism spectrum disorder

Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than in females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences in common inherited genetic risk for ASD are less studied, particularly within fam...

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Detalles Bibliográficos
Autores principales: Wigdor, Emilie M., Weiner, Daniel J., Grove, Jakob, Fu, Jack M., Thompson, Wesley K., Carey, Caitlin E., Baya, Nikolas, van der Merwe, Celia, Walters, Raymond K., Satterstrom, F. Kyle, Palmer, Duncan S., Rosengren, Anders, Bybjerg-Grauholm, Jonas, Hougaard, David M., Mortensen, Preben Bo, Daly, Mark J., Talkowski, Michael E., Sanders, Stephan J., Bishop, Somer L., Børglum, Anders D., Robinson, Elise B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903803/
https://www.ncbi.nlm.nih.gov/pubmed/36778135
http://dx.doi.org/10.1016/j.xgen.2022.100134
Descripción
Sumario:Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than in females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences in common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings of female ASD cases (n = 1,707) had higher rates of ASD than siblings of male ASD cases (n = 6,270; p < 1.0 × 10(−10)). In the Simons Simplex and SPARK collections, mothers of ASD cases (n = 7,436) carried more polygenic risk for ASD than fathers of ASD cases (n = 5,926; 0.08 polygenic risk score [PRS] SD; p = 7.0 × 10(−7)). Further, male unaffected siblings under-inherited polygenic risk (n = 1,519; p = 0.03). Using both epidemiologic and genetic approaches, our findings strongly support an FPE against ASD’s common inherited influences.

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