Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.
J Autism Dev Disord
; 52(10): 4213-4218, 2022 Oct.
Article
em En
| MEDLINE
| ID: mdl-34562210
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Precursores de Proteínas
/
Transtorno Autístico
/
Subunidades beta do Canal de Potássio Ativado por Cálcio de Condutância Alta
/
Proteína Quinase C beta
/
Transtorno do Espectro Autista
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article