[article] 
inJournal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4213-4218

Titre :	Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population
Type de document :	texte imprimé
Auteurs :	Tomasz IWANICKI, Auteur ; Anna BALCERZYK, Auteur ; Beata KAZEK, Auteur ; Ewa EMICH-WIDERA, Auteur ; Wirginia LIKUS, Auteur ; Joanna IWANICKA, Auteur ; Agnieszka KAPINOS-GORCZYCA, Auteur ; Maciej KAPINOS, Auteur ; Alicja JAROSZ, Auteur ; WÅ‚adysÅ‚aw GRZESZCZAK, Auteur ; Sylwia GORCZYÅƑSKA-KOSIORZ, Auteur ; PaweÅ‚ NIEMIEC, Auteur
Article en page(s) :	p.4213-4218
Langues :	Anglais (eng)
Mots-clés :	Genetic testing  Protein kinase C beta 1 subunit gene  Single nucleotide polymorphism  Transmission-disequilibrium test  content of this article.
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05291-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

[article] Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population [texte imprimé] / Tomasz IWANICKI, Auteur ; Anna BALCERZYK, Auteur ; Beata KAZEK, Auteur ; Ewa EMICH-WIDERA, Auteur ; Wirginia LIKUS, Auteur ; Joanna IWANICKA, Auteur ; Agnieszka KAPINOS-GORCZYCA, Auteur ; Maciej KAPINOS, Auteur ; Alicja JAROSZ, Auteur ; WÅ‚adysÅ‚aw GRZESZCZAK, Auteur ; Sylwia GORCZYÃ…Æ‘SKA-KOSIORZ, Auteur ; PaweÅ‚ NIEMIEC, Auteur . - p.4213-4218.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4213-4218

Mots-clés :	Genetic testing  Protein kinase C beta 1 subunit gene  Single nucleotide polymorphism  Transmission-disequilibrium test  content of this article.
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05291-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486