Journal
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Volume 52, Issue 10, Pages 4213-4218Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-021-05291-3
Keywords
Genetic testing; Protein kinase C beta 1 subunit gene; Single nucleotide polymorphism; Transmission-disequilibrium test
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Funding
- Medical University of Silesia in Katowice [PCN-1-195/K/9/K]
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This study aimed to perform family-based association analysis of PRKCB1 gene polymorphisms and autism disorder, showing that the T-allele of the rs198198 polymorphism may be associated with ASD in men and certain features characteristic for the disorder.
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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