Evidence map›Paper›PMID 34562210›Full record

ArticleJournal of autism and developmental disorders2022

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

Tomasz Iwanicki, Anna Balcerzyk, Beata Kazek, Ewa Emich-Widera, Wirginia Likus, Joanna Iwanicka, Agnieszka Kapinos-Gorczyca, Maciej Kapinos, Alicja Jarosz, Władysław Grzeszczak and 2 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of autism and developmental disorders, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 57% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 3 countries.

Tomasz IwanickiDepartment of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.
Anna BalcerzykDepartment of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland. abalcerzyk@sum.edu.pl.ORCID http://orcid.org/0000-0002-1113-7796
Beata KazekChild Development Support Center, Kępowa Street 56, 40- 583, Katowice, Poland.
Ewa Emich-WideraDepartment of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia in Katowice, Medykow Street 16, 40-752, Katowice, Poland.
Wirginia LikusDepartment of Anatomy, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.
Joanna IwanickaDepartment of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.
Agnieszka Kapinos-GorczycaCZP Feniks, Daily Ward for Children and Adolescents, Młyńska Street 8, 44-100, Gliwice, Poland.
Maciej KapinosCZP Feniks, Daily Ward for Children and Adolescents, Młyńska Street 8, 44-100, Gliwice, Poland.
Alicja JaroszDepartment of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.
Władysław GrzeszczakDepartment of Internal Medicine, Diabetology, and Nephrology in Zabrze, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, 3-go Maja Street 13-15, 41-800, Zabrze, Poland.
Sylwia Górczyńska-KosiorzDepartment of Internal Medicine, Diabetology, and Nephrology in Zabrze, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, 3-go Maja Street 13-15, 41-800, Zabrze, Poland.
Paweł NiemiecDepartment of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.
Medical University of Silesia · PLCenter for Children · USChild Development Center · QA

Funding

Śląski Uniwersytet Medyczny PCN-1-195/K/9/K
6 · The paper itself

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.

Indexed as

Autism Spectrum DisorderAutistic DisorderChildCohort StudiesFemaleGenetic Predisposition to DiseaseHumansLarge-Conductance Calcium-Activated Potassium Channel beta SubunitsMaleNerve Tissue ProteinsPolandPolymorphism, Single NucleotideProtein Kinase C betaProtein PrecursorsCBLN1 protein, humanKCNMB4 protein, humanLarge-Conductance Calcium-Activated Potassium Channel beta SubunitsNerve Tissue ProteinsPRKCB protein, humanProtein Kinase C betaProtein PrecursorsGenetic testingProtein kinase C beta 1 subunit geneSingle nucleotide polymorphismTransmission-disequilibrium test

Identifiers

PMID34562210
PMCPMC9508047
OpenAlexW3199337373

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.