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

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

PMC · DOI: 10.1002/dneu.22995 · Developmental Neurobiology · 2025-08-11

## TL;DR

This study examines if specific gene variations are linked to autism and bipolar disorder in the Turkish population but finds no significant associations.

## Contribution

The study investigates the role of FOXP1, SYNGAP1, and DOCK4 polymorphisms in ASD and BD in a Turkish population for the first time.

## Key findings

- No statistically significant differences were found between patient and control groups for the studied polymorphisms.
- Allele frequencies of the polymorphisms were consistent with global population data.
- The small sample size limits the generalizability of the results.

## 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.

## Linked entities

- **Genes:** FOXP1 (forkhead box P1) [NCBI Gene 27086], SYNGAP1 (synaptic Ras GTPase activating protein 1) [NCBI Gene 8831], DOCK4 (dedicator of cytokinesis 4) [NCBI Gene 9732]
- **Diseases:** Autism spectrum disorder (MONDO:0005258), Bipolar disorder (MONDO:0004985)

## Full-text entities

- **Genes:** DOCK4 (dedicator of cytokinesis 4) [NCBI Gene 9732], SYNGAP1 (synaptic Ras GTPase activating protein 1) [NCBI Gene 8831] {aka MRD5, RASA5, SYNGAP}, FOXP1 (forkhead box P1) [NCBI Gene 27086] {aka 12CC4, HSPC215, MFH, QRF1, hFKH1B}
- **Diseases:** ASD (MESH:D000067877), psychiatric diseases (MESH:D001523), BD (MESH:D001714)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs767001715, rs147636134, rs199759879

## Full text

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## References

32 references — full list in the complete paper: https://tomesphere.com/paper/PMC12340474/full.md

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Source: https://tomesphere.com/paper/PMC12340474