Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population / Tomasz IWANICKI in Journal of Autism and Developmental Disorders, 52-10 (October 2022)  

Public ISBD [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 et/ou numérique 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 GORCZYÅ?SKA-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 et/ou numérique] / 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 GORCZYÅ?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

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