FOXP3基因变异与自闭症易感性：一项病例对照研究。
FOXP3 gene variations and susceptibility to autism: A case-control study.
作者信息
Safari Mohammad Reza, Ghafouri-Fard Soudeh, Noroozi Rezvan, Sayad Arezou, Omrani Mir Davood, Komaki Alireza, Eftekharian Mohammad Mahdi, Taheri Mohammad
机构信息
Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Gene. 2017 Jan 5;596:119-122. doi: 10.1016/j.gene.2016.10.019. Epub 2016 Oct 14.
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
自闭症谱系障碍（ASD）是一组与免疫系统失调相关的异质性神经发育障碍。有证据支持叉头框P3（FOXP3）基因作为调节性T细胞的谱系特异性因子在ASD发病机制中的作用。本研究的目的是探讨523例ASD患者与472例对照个体中FOXP3基因的rs2232365和rs3761548基因变异与ASD之间的可能关系。等位基因频率分析显示，与对照组相比，病例组中rs2232365-G等位基因显著过量表达。此外，在显性遗传模型中，rs2232365 GG基因型与ASD相关。单倍型分析显示，rs2232365/rs3761548的任何估计区域与ASD均无显著关联。我们的研究表明，rs2232365与ASD相关。
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