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The female protective effect against autism spectrum disorder

Title: The female protective effect against autism spectrum disorder
Authors: Wigdor, EM; Weiner, DJ; Grove, J; Fu, JM; Thompson, WK; Carey, CE; Baya, N; van der Merwe, C; Walters, RK; Satterstrom, FK; Palmer, DS; Rosengren, A; Bybjerg-Grauholm, J; Hougaard, DM; Mortensen, PB; Daly, MJ; Talkowski, ME; Sanders, SJ; Bishop, SL; Børglum, AD; Robinson, EB
Source: Cell Genomics, vol 2, iss 6
Publisher Information: eScholarship, University of California
Publication Year: 2022
Collection: University of California: eScholarship
Subject Geographic: S59 - S59
Description: 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.
Document Type: article in journal/newspaper
File Description: application/pdf
Language: unknown
Relation: qt6p12d0gz; https://escholarship.org/uc/item/6p12d0gz; https://escholarship.org/content/qt6p12d0gz/qt6p12d0gz.pdf
DOI: 10.1016/j.xgen.2022.100134
Availability: https://escholarship.org/uc/item/6p12d0gz; https://escholarship.org/content/qt6p12d0gz/qt6p12d0gz.pdf; https://doi.org/10.1016/j.xgen.2022.100134
Rights: CC-BY
Accession Number: edsbas.93B8335A
Database: BASE