Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population
| Autor: | Maciej Kapinos, Anna Balcerzyk, Ewa Emich-Widera, Wirginia Likus, Alicja Jarosz, Joanna Iwanicka, Paweł Niemiec, Tomasz Iwanicki, Agnieszka Kapinos-Gorczyca, Władysław Grzeszczak, Beata Kazek, Sylwia Górczyńska-Kosiorz |
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| Rok vydání: | 2021 |
| Předmět: |
Male
medicine.medical_specialty Autism Spectrum Disorder Large-Conductance Calcium-Activated Potassium Channel beta Subunits Single-nucleotide polymorphism Nerve Tissue Proteins Polymorphism Single Nucleotide Cohort Studies Internal medicine Protein Kinase C beta Developmental and Educational Psychology medicine Humans Genetic Predisposition to Disease Autistic Disorder Protein Precursors Child Genetic testing Genetic association medicine.diagnostic_test Transmission disequilibrium test medicine.disease Hypotonia Cohort Autism Female PRKCB1 Poland medicine.symptom Psychology |
| Zdroj: | Journal of autism and developmental disorders. 52(10) |
| ISSN: | 1573-3432 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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