Evidence map›Paper›PMID 40790933›Full record

ArticleDevelopmental neurobiology2025

Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?

Elvan Çiftçi, Nimet Sağlam, Tayfun Gözler, İpek Yüksel, Neriman Kilit, İlknur Bozkurt, Muhsin Konuk, Korkut Ulucan, Nevzat Tarhan

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Article in Developmental neurobiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Elvan ÇiftçiDepartment of Psychiatry, NPI Brain Hospital, Uskudar University, Istanbul, Turkey.
Nimet SağlamDepartment of Neuroscience, Uskudar University, Istanbul, Turkey.
Tayfun GözlerDepartment of Neuroscience, Uskudar University, Istanbul, Turkey.
İpek YükselDepartment of Neuroscience, Uskudar University, Istanbul, Turkey.
Neriman KilitDepartment of Child and Adolescent Psychiatry, NPI Brain Hospital, Uskudar University, Istanbul, Turkey.
İlknur BozkurtDepartment of Biochemistry, Uskudar University, Istanbul, Turkey.
Muhsin KonukDepartment of Molecular Biology and Genetics, Uskudar University, Istanbul, Turkey.
Korkut UlucanDepartment of Molecular Biology and Genetics, Uskudar University, Istanbul, Turkey.
Nevzat TarhanDepartment of Psychiatry, NPI Brain Hospital, Uskudar University, Istanbul, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) and bipolar disorder (BD) are psychiatric diseases that may overlap in common neurodevelopmental and genetic basis. Forkhead Box P1 (FOXP1), Synaptic Ras GTPase-activating protein 1 (SYNGAP1), and Dedicator of Cytokinesis 4 (DOCK4) genes are critical for synaptic plasticity, neuronal communication, and brain development. This study aims to investigate the association of FOXP1 (rs767001715), SYNGAP1 (rs199759879), and DOCK4 (rs147636134) polymorphisms with ASD and BD and to determine the effects of genetic variations on disease pathogenesis in the Turkish population. This study was conducted with a total of 200 participants, including 50 ASD patients, 50 BD patients, and 100 healthy controls. DNA was isolated from peripheral blood samples, and FOXP1, SYNGAP1, and DOCK4 polymorphisms were genotyped using real-time PCR. The distribution of genetic variants was compared between patient groups and healthy controls. The chi-square test was applied for statistical analyses. In terms of FOXP1 (rs767001715), SYNGAP1 (rs199759879), and DOCK4 (rs147636134) polymorphisms examined in the study, no statistically significant difference was found between the ASD and BD patient groups and the healthy control group (p > 0.05) in the Turkish population. In addition, it was determined that these variants had allele frequencies compatible with global population data. However, due to the limited sample size, these results cannot be generalized. Further large-scale population analyses and functional studies are needed to investigate the association of these genes with ASD and BD in more detail.

Indexed as

Autism Spectrum DisorderBipolar DisorderForkhead Transcription FactorsGenetic Predisposition to DiseaseGTPase-Activating Proteinsras GTPase-Activating ProteinsRepressor ProteinsAdolescentAdultChildFemaleHumansMalePolymorphism, Single NucleotideRisk FactorsTurkeyDOCK4 protein, humanForkhead Transcription FactorsFOXP1 protein, humanGTPase-Activating Proteinsras GTPase-Activating ProteinsRepressor ProteinsSYNGAP1 protein, humanautism spectrum disorderbipolar disorderDedicator of Cytokinesis 4 (DOCK4)Forkhead Box P1 (FOXP1)neurodevelopmental disorderneuropsychiatric disordersingle nucleotide polymorphismSynaptic Ras GTPase‐activating protein 1 (SYNGAP1)

Identifiers

PMID40790933
PMCPMC12340474

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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.