DOCK4 (rs147636134)、SYNGAP1 (rs199759879)和FOXP1 (rs767001715)的多态性是否可能是双相情感障碍和自闭症谱系障碍的主要危险因素?

IF 2.3 4区 医学 Q2 DEVELOPMENTAL BIOLOGY
Elvan Çiftçi, Nimet Sağlam, Tayfun Gözler, İpek Yüksel, Neriman Kilit, İlknur Bozkurt, Muhsin Konuk, Korkut Ulucan, Nevzat Tarhan
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引用次数: 0

摘要

自闭症谱系障碍(ASD)和双相情感障碍(BD)是两种具有共同神经发育和遗传基础的精神疾病。叉头盒P1 (FOXP1)、突触Ras gtpase激活蛋白1 (SYNGAP1)和细胞分裂献身者4 (DOCK4)基因对突触可塑性、神经元通讯和大脑发育至关重要。本研究旨在探讨FOXP1 (rs767001715)、SYNGAP1 (rs199759879)和DOCK4 (rs147636134)多态性与ASD和BD的相关性,并确定遗传变异对土耳其人群疾病发病机制的影响。本研究共纳入200名参与者,包括50名ASD患者、50名BD患者和100名健康对照。从外周血样本中分离DNA,利用实时荧光定量PCR对FOXP1、SYNGAP1和DOCK4多态性进行基因分型。比较了患者组和健康对照组之间的遗传变异分布。统计学分析采用卡方检验。在本研究检测的FOXP1 (rs767001715)、SYNGAP1 (rs199759879)和DOCK4 (rs147636134)多态性方面,ASD和BD患者组与健康对照组之间无统计学差异(p >;0.05)。此外,还确定这些变异的等位基因频率与全球人口数据一致。然而,由于样本量有限,这些结果不能一概而论。需要进一步的大规模人群分析和功能研究来更详细地研究这些基因与ASD和BD的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?

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.

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来源期刊
Developmental Neurobiology
Developmental Neurobiology 生物-发育生物学
CiteScore
6.50
自引率
0.00%
发文量
45
审稿时长
4-8 weeks
期刊介绍: Developmental Neurobiology (previously the Journal of Neurobiology ) publishes original research articles on development, regeneration, repair and plasticity of the nervous system and on the ontogeny of behavior. High quality contributions in these areas are solicited, with an emphasis on experimental as opposed to purely descriptive work. The Journal also will consider manuscripts reporting novel approaches and techniques for the study of the development of the nervous system as well as occasional special issues on topics of significant current interest. We welcome suggestions on possible topics from our readers.
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