Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples DOI Open Access
Antonio Drago, Marco Calabrò, Concetta Crisafulli

и другие.

Genes, Год журнала: 2024, Номер 15(12), С. 1609 - 1609

Опубликована: Дек. 17, 2024

Background: Autism spectrum disorder (ASD) is a neurodevelopmental characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments communication. ASD tends to run families, twin studies suggest strong genetic basis for the disorder. However, definition of profile that indicates risk remains unclear. Methods: This analysis includes an investigation (Autism Dataset 4 from NIMH repository, n = 2890) replication 3 1233) trio samples with GWAS data. In Phase 1, molecular pathway conducted on sample test enrichment specific Gene Ontology (GO) terms associated autism. 2, identified pathways are tested sample. Permutation tests performed reduce false-positive findings. Quality assessment using QQ-plots λ values, Plink R utilized Transmission Disequilibrium Test (TDT) permutation tests. Results: The GO term GO:0007417 was found be enriched both samples. SNPs this were observed at frequency higher than expected Conclusions: (development nervous system) autism Variations genes TMPRSS4, TRPC4, PCDH9 consistently linked across two independent samples, highlighting role calcium signaling cell adhesion molecules autism-related disorders. variations described detail, which can contribute engineering new pharmacological treatments ASD.

Язык: Английский

Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples DOI Open Access
Antonio Drago, Marco Calabrò, Concetta Crisafulli

и другие.

Genes, Год журнала: 2024, Номер 15(12), С. 1609 - 1609

Опубликована: Дек. 17, 2024

Background: Autism spectrum disorder (ASD) is a neurodevelopmental characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments communication. ASD tends to run families, twin studies suggest strong genetic basis for the disorder. However, definition of profile that indicates risk remains unclear. Methods: This analysis includes an investigation (Autism Dataset 4 from NIMH repository, n = 2890) replication 3 1233) trio samples with GWAS data. In Phase 1, molecular pathway conducted on sample test enrichment specific Gene Ontology (GO) terms associated autism. 2, identified pathways are tested sample. Permutation tests performed reduce false-positive findings. Quality assessment using QQ-plots λ values, Plink R utilized Transmission Disequilibrium Test (TDT) permutation tests. Results: The GO term GO:0007417 was found be enriched both samples. SNPs this were observed at frequency higher than expected Conclusions: (development nervous system) autism Variations genes TMPRSS4, TRPC4, PCDH9 consistently linked across two independent samples, highlighting role calcium signaling cell adhesion molecules autism-related disorders. variations described detail, which can contribute engineering new pharmacological treatments ASD.

Язык: Английский

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