SOX7:新的自闭症基因被通过分析多个omics数据来识别
Samantha Gonzales1, Jane Zizhen Zhao2, Na Young Choi3
1Florida International University.
Research square
|October 4, 2023
概括
全基因组关联研究发现了数千种自闭症谱系障碍 (ASD) 变体,但因果基因仍然难以捉摸. 整合DNA和RNA分析揭示了SOX7作为ASD的潜在因果基因和生物标志物.
科学领域:
- 遗传学和基因组学 在
- 神经发育障碍 神经发育障碍
- 生物标志物发现发现
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了与自闭症谱系障碍 (ASD) 相关的众多变异.
- 大多数已识别的变异是非编码的,阻碍了因果突变和诊断生物标记物的识别.
- RNA-sequencing (RNA-seq) 通过分析转录组模式提供了一个补充的方法.
研究的目的:
- 通过整合DNA和RNA数据来识别ASD的因果基因和潜在的诊断生物标志物.
- 使用GWAS总结统计和RNA-seq数据进行基因相关研究.
主要方法:
- 采用了一种适应性测试方法,对来自两大精神病基因组学联盟 (PGC) 数据集 (ASD2019和ASD2017) 的GWAS总结统计数据进行了适应性测试.
- 使用RNA-seq数据 (GSE30573) 和DESeq2对已识别的基因进行了差异性基因表达的研究.
- 专注于基于基因的关联研究和差异表达分析.
主要成果:
- 在ASD2019数据集中确定了五种与ASD显著相关的基因:KIZ-AS1,KIZ,XRN2,SOX7和LOC101929229 (PINX1-DT).
- 在ASD2017数据集中复制了SOX7和LOC101929229的关联;KIZ显示了接近复制.
- 发现SOX7,LOC101929229和KIZ的显著差异表达,其中SOX7编码了参与发育途径的转录因子.
结论:
- SOX7和相关的SOX家族基因是参与调节Wnt/β-catenin信号通路的关键转录因子.
- 这些发现支持SOX7与自闭症谱系障碍相关的生物学可信性.
- 整合DNA和RNA数据有望确定ASD的因果基因和生物标志物.
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