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

• DOI: 10.1007/s10803-021-05291-3
• Publication Date: 2021-09-25T08:02:55Z
• Authors: Tomasz Iwanicki; Anna Balcerzyk; Beata Kazek; Ewa Emich-Widera; Wirginia Likus; Joanna Iwanicka; Agnieszka Kapinos...; Maciej Kapinos; Alicja Jarosz; Władysław Grzeszczak; Sylwia Górczyńska...; Paweł Niemiec
• Keywords: Transmission disequilibrium test; Neurodevelopmental disorder

The aim of the study was to perform family-based association analysis PRKCB1, CBLN1 and KCNMB4 gene polymorphisms autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) their biological parents. In transmission/disequilibrium test we observed that T-allele rs198198 polymorphism PRKCB1 more often transmitted affected in male subgroup (p = 0.010). Additionally, T carrier state significantly associated hypotonia 0.048). female subgroup, carriers showed mobile/vital behavior 0.046). conclusion, our may be ASD men some features characteristic for