Electronic Resource

Structural models of genome-wide covariance identify multiple common dimensions in autism

التفاصيل البيبلوغرافية
العنوان: Structural models of genome-wide covariance identify multiple common dimensions in autism
المؤلفون: Hoyos, L. de, Barendse, M.T., Schlag, F., Donkelaar, M.M.J. van, Verhoef, E., Shapland, C.Y., Klassmann, A., Buitelaar, J.K., Verhulst, B., Fisher, S.E., Rai, D., Pourcain, B. St
المصدر: Nature Communications, 15, 1, pp. 1770
بيانات النشر: 2024
نوع الوثيقة: Electronic Resource
مستخلص: Contains fulltext : 305225.pdf (Publisher’s version ) (Open Access)
Common genetic variation has been associated with multiple phenotypic features in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous phenotypic spectrum is limited. Here, we developed and implemented a structural equation modelling framework to directly model genomic covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent with a case-only design. We identified three independent genetic factors most strongly linked to language performance, behaviour and developmental motor delay, respectively, studying an autism community sample (N = 5331). The three-factorial structure was largely confirmed in independent ASD-simplex families (N = 1946), although we uncovered, in addition, simplex-specific genetic overlap between behaviour and language phenotypes. Multivariate models across cohorts revealed novel associations, including links between language and early mastering of self-feeding. Thus, the common genetic architecture in ASD is multi-dimensional with overarching genetic factors contributing, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.
مصطلحات الفهرس: Molecular Neurobiology, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Cognitive Neuroscience - Radboud University Medical Center, Article / Letter to editor
URL: https://repository.ubn.ru.nl//bitstream/handle/2066/305225/305225.pdf
https://repository.ubn.ru.nl/handle/2066/305225
الاتاحة: Open access content. Open access content
Other Numbers: NLQGE oai:repository.ubn.ru.nl:2066/305225
10.1038/s41467-024-46128-8
1443486554
المصدر المساهم: RADBOUD UNIVERSITEIT NAJMEGEN
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رقم الانضمام: edsoai.on1443486554
قاعدة البيانات: OAIster