Evidence map›Paper›PMID 40428333›Full record

ArticleGenes2025

Analysis of the

Anna Balcerzyk-Matić, Tomasz Iwanicki, Alicja Jarosz, Tomasz Nowak, Ewa Emich-Widera, Beata Kazek, Agnieszka Kapinos-Gorczyca, Maciej Kapinos, Joanna Iwanicka, Katarzyna Gawron and 2 more

Abstract read
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In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Anna Balcerzyk-MatićDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0002-1113-7796
Tomasz IwanickiDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0003-0044-3162
Alicja JaroszDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0002-8159-6437
Tomasz NowakDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0002-6712-5911
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.
Beata KazekChild Development Support Center Persevere, Kępowa Street 56, 40-583 Katowice, Poland.ORCID 0000-0003-4135-2996
Agnieszka Kapinos-GorczycaMental Health Center Feniks, Daily Ward for Children and Adolescents, Młyńska Street 8, 44-100 Gliwice, Poland.
Maciej KapinosMental Health Center Feniks, Daily Ward for Children and Adolescents, Młyńska Street 8, 44-100 Gliwice, Poland.
Joanna IwanickaDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0002-3609-9554
Katarzyna GawronDepartment of Medical Microbiology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.ORCID 0000-0003-3430-6270
Wirginia LikusDepartment of Anatomy, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.
Paweł NiemiecDepartment of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.

Funding

Medical University of Silesia in Katowice Grant Number: BNW-1-085/N/2/Z
6 · The paper itself

Abstract

objectivesTo analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the

methodsThis family-based study included 206 children diagnosed with ASD and 364 of their biological parents. To examine the potential association between three polymorphisms of the

resultsNone of the polymorphisms studied showed an association with ASD in the overall patient group. However, an association between the rs3818188 polymorphic variant and ASD was observed in a subgroup of girls, with the G allele being transmitted more than 2.5 times as frequently as the A allele. Moreover, several associations between the tested variants and features related to neuromotor development, communication, and social skills were observed in univariate analysis. However, after correction for multiple comparisons, only the association between the rs2403015 polymorphism and transient increase in muscle tone during infancy remained statistically significant.

conclusionsThis study demonstrated an association between the rs3818188 polymorphism and ASD in a subgroup of girls. Additionally, the rs2403015 polymorphism was found to be associated with transient increase in muscle tone during infancy.

Indexed as

Autism Spectrum DisorderCytoplasmic DyneinsGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdolescentAllelesChildChild, PreschoolFemaleHumansMalePhenotypeCytoplasmic DyneinsDYNC1H1 protein, humanautism spectrum disorderdyneingenetic variantspolymorphism

Identifiers

PMID40428333
PMCPMC12111019

What Socratic 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 Socratic graph.