BACKGROUND Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder that encompasses a complex and heterogeneous set of traits. Subclinical traits that mirror the core features of ASD, referred to as the broad autism phenotype (BAP), have been documented repeatedly in unaffected relatives and are believed to reflect underlying genetic liability to ASD. The BAP may help inform the etiology of ASD by allowing the stratification of families into more phenotypically and etiologically homogeneous subgroups. This study explores polygenic scores related to the BAP. METHODS Phenotypic and genotypic information were obtained from 2614 trios from the Simons Simplex Collection. Polygenic scores of ASD (ASD-PGSs) were generated across the sample to determine the shared genetic overlap between the BAP and ASD. Maternal and paternal ASD-PGSs were explored in relation to BAP traits and their child's ASD symptomatology. RESULTS Maternal pragmatic language was related to child's social communicative atypicalities. In fathers, rigid personality was related to increased repetitive behaviors in children. Maternal (but not paternal) ASD-PGSs were related to the pragmatic language and rigid BAP domains. CONCLUSIONS Associations emerged between parent and child phenotypes, with more associations emerging in mothers than in fathers. ASD-PGS associations emerged with BAP in mothers only, highlighting the potential for a female protective factor, and implicating the polygenic etiology of ASD-related phenotypes in the BAP.

中文翻译：

---

ASD 的多基因负担升高与 ASD 个体母亲的广泛自闭症表型有关

背景自闭症谱系障碍（ASD）是一种多因素神经发育障碍，包括一组复杂且异质的特征。反映 ASD 核心特征的亚临床特征，称为广泛自闭症表型 (BAP)，已在未受影响的亲属中反复记录，并被认为反映了 ASD 的潜在遗传倾向。BAP 可以通过允许将家庭分层为更具有表型和病因学同质性的亚组来帮助了解 ASD 的病因。本研究探讨了与 BAP 相关的多基因评分。方法 从 Simons Simplex Collection 的 2614 个三重奏中获得表型和基因型信息。在整个样本中生成 ASD 的多基因评分 (ASD-PGS) 以确定 BAP 和 ASD 之间的共享遗传重叠。探讨了与 BAP 特征及其孩子的 ASD 症状相关的母亲和父亲 ASD-PGS。结果母亲语用语与儿童社会交际的非典型性有关。在父亲中，刻板的性格与孩子的重复行为增加有关。母系（但不是父系）ASD-PGS 与语用语言和严格的 BAP 域有关。结论 父母和孩子的表型之间出现了关联，母亲的关联比父亲的多。ASD-PGS 关联仅与母亲的 BAP 出现，突出了女性保护因素的潜力，并暗示了 BAP 中 ASD 相关表型的多基因病因。结果母亲语用语与儿童社会交际的非典型性有关。在父亲中，刻板的性格与孩子的重复行为增加有关。母系（但不是父系）ASD-PGS 与语用语言和严格的 BAP 域有关。结论 父母和孩子的表型之间出现了关联，母亲的关联比父亲的多。ASD-PGS 关联仅与母亲的 BAP 出现，突出了女性保护因素的潜力，并暗示了 BAP 中 ASD 相关表型的多基因病因。结果母亲语用语与儿童社会交际的非典型性有关。在父亲中，刻板的性格与孩子的重复行为增加有关。母系（但不是父系）ASD-PGS 与语用语言和严格的 BAP 域有关。结论 父母和孩子的表型之间出现了关联，母亲的关联比父亲的多。ASD-PGS 关联仅与母亲的 BAP 出现，突出了女性保护因素的潜力，并暗示了 BAP 中 ASD 相关表型的多基因病因。结论 父母和孩子的表型之间出现了关联，母亲的关联比父亲的多。ASD-PGS 关联仅与母亲的 BAP 出现，突出了女性保护因素的潜力，并暗示了 BAP 中 ASD 相关表型的多基因病因。结论 父母和孩子的表型之间出现了关联，母亲的关联比父亲的多。ASD-PGS 关联仅与母亲的 BAP 出现，突出了女性保护因素的潜力，并暗示了 BAP 中 ASD 相关表型的多基因病因。