Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population

The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-all...

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Detalles Bibliográficos
Autores principales: Iwanicki, Tomasz, Balcerzyk, Anna, Kazek, Beata, Emich-Widera, Ewa, Likus, Wirginia, Iwanicka, Joanna, Kapinos-Gorczyca, Agnieszka, Kapinos, Maciej, Jarosz, Alicja, Grzeszczak, Władysław, Górczyńska-Kosiorz, Sylwia, Niemiec, Paweł
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508047/
https://www.ncbi.nlm.nih.gov/pubmed/34562210
http://dx.doi.org/10.1007/s10803-021-05291-3
Descripción
Sumario:The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the rs198198 polymorphism of the PRKCB1 gene was more often transmitted to affected children in the male subgroup (p = 0.010). Additionally, the T carrier state was significantly associated with hypotonia (p = 0.048). In the female subgroup, the T-allele carriers more often showed more mobile/vital behavior (p = 0.046). In conclusion, our study showed that the rs198198 of the PRKCB1 gene may be associated with ASD in men and with some features characteristic for the disorder.

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