rs1007893，rs7279002，rs2248636单核苷酸多态性与孤独症谱系障碍的关系研究

王 菁, 王 宇航, 丁 堃, 李 岩*
北华大学公共卫生学院

摘要


目的：探讨DIP2A基因（rs1007893，rs7279002，rs2248636）单核苷酸多态性（SNP）与孤独症谱系障碍（ASD）发病风险的关联，分析DIP2A SNP与ASD的关联，为探讨病因，阐明发病机制提供依据。方法：采用病例－对照研究设计，按照严格纳入和排除标准，纳入参与者，其中ASD病例100人，对照200人，均为汉族。两组在性别、年龄上匹配。提取研究对象DNA，检测3个SNP位点（rs1007893，rs7279002，rs2248636）的基因型，选用SPSS 27.0分析3个SNP等位基因与基因型频率的分布差异。统计学检验采用双侧检验，P＜0.05为差异有统计学意义。结果：本研究共纳入参与者200例，ASD病例组100例（男性75例，女性25例），平均年龄为4.08±1.269岁；对照组100例（男性75例，女性25例），平均年龄为4.08±1.269岁。两组参与者在年龄分布、性别构成上均衡可比（P＞0.05）；等位基因与基因型频率分析结果显示，rs2248636、rs1007893以及rs7279002位点的等位基因及基因型频率，在病例组和对照组中的分布差异均无统计学意义（P＞0.05）。结论：尚不能认为rs1007893、rs7279002、rs2248636是ASD的遗传易感SNP位点。由于该病患病率低，纳入样本较少，后续需扩大样本量进一步进行分析研究。

关键词


孤独症谱系障碍；单核苷酸多态性；等位基因；基因型

全文:

PDF


参考


[1]Barnard-Brak L., Richman D., Chesnut S., et al. Social Communication Questionnaire scoring procedures for autism spectrum disorder and the prevalence of potential social communication disorder in ASD [J]. School psychology quarterly: the official journal of the Division of School Psychology, American Psychological Association, 2016, 31(4): 522-533.

[2]Lin X, Wang G, Shen S, et al. Advances in the diagnosis and treatment of autism spectrum disorders in children[J]. Altern. Ther. Health Med, 2024, 30: 170-175.

[3]Rountree M. R., Bachman K. E., Baylin S. B. DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci [J]. Nature genetics, 2000, 25(3): 269-277.

[4]Ma J, Zhang L Q, He Z X, et al. Autism candidate gene DIP2A regulates spine morphogenesis via acetylation of cortactin[J]. PLoS biology, 2019, 17(10): e3000461.

[5]Yao M, Yang Q, Lian M, et al. Generation of Dip2a homozygous knockout murine ES cell line IBMSe001-A-1 via CRISPR/Cas9 technology[J]. Stem Cell Research, 2020, 45: 101778.

[6]Yao M, Zhang L, Teng X, et al. Transcriptomic profiling of Dip2a in the neural differentiation of mouse embryonic stem cells[J]. Computational and Structural Biotechnology Journal, 2024, 23: 700-710.

[7]Zhang B, Zhang X, Omorou M, et al. Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders[J]. Biomedicine & Pharmacotherapy, 2023, 168: 115771.

[8]Li J, He Z, Chai W, et al. Dip2a regulates stress susceptibility in the basolateral amygdala[J]. Neural Regeneration Research, 2025, 20(6): 1735-1748.

[9]Mukhopadhyay M, Pelka P, DeSousa D, et al. Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog[J]. Gene, 2002, 293(1-2): 59-65.

[10]Zhang L., Mabwi H. A., Palange N. J., et al. Expression Patterns and Potential Biological Roles of Dip2a [J]. PloS one, 2015, 10(11): e0143284.

[11]Egger G, Roetzer K M, Noor A, et al. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families[J]. neurogenetics, 2014, 15(2): 117-127.

[12]Iossifov I, Ronemus M, Levy D, et al. De novo gene disruptions in children on the autistic spectrum[J]. Neuron, 2012, 74(2): 285-299.

[13]Poelmans G., Buitelaar J. K., Pauls D. L., et al. A theoretical molecular network for dyslexia: integrating available genetic findings [J]. Molecular psychiatry, 2011, 16(4): 365-382.

[14]孔锐.DIP2A基因多态性与儿童汉语阅读障碍易感性的关联研究[D].华中科技大学，2016.


Refbacks

  • 当前没有refback。