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

Tomasz Iwanicki1, Anna Balcerzyk2, Beata Kazek3

  • 1Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.

Journal of Autism and Developmental Disorders
|September 25, 2021
PubMed

Insights

A specific PRKCB1 gene variant (rs198198) is linked to autism spectrum disorder (ASD) in males. This genetic factor may also influence hypotonia and behavioral traits in children with ASD.

Area of Science:

  • Genetics
  • Neuroscience
  • Pediatrics

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
  • Genetic factors play a significant role in ASD etiology.
  • Understanding specific gene associations can elucidate underlying biological mechanisms.

Purpose of the Study:

  • To investigate the association between PRKCB1, CBLN1, and KCNMB4 gene polymorphisms and autism disorder.
  • To conduct a family-based association analysis in a Caucasian cohort.

Main Methods:

  • Utilized a transmission/disequilibrium test (TDT).
  • Analyzed 206 Caucasian children diagnosed with ASD and their biological parents.
  • Examined the PRKCB1 gene polymorphism rs198198.

Main Results:

  • The T-allele of PRKCB1 rs198198 was significantly more transmitted to affected males (p=0.010).
  • T-allele carrier status correlated with hypotonia in the male subgroup (p=0.048).
  • Female subgroup T-allele carriers exhibited more mobile/vital behavior (p=0.046).

Conclusions:

  • The PRKCB1 rs198198 polymorphism may be associated with ASD in males.
  • This genetic variant might also be linked to specific ASD-related features like hypotonia and behavioral characteristics.

Keywords:
Genetic testingProtein kinase C beta 1 subunit geneSingle nucleotide polymorphismTransmission-disequilibrium test

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