自闭症异质性与早产有关:来自西蒙斯基金会的多祖先结果 推动自闭症研究的知识样本
Charikleia Chatzigeorgiou1,2, Zeynep Asgel3, Marina Natividad Avila1,4
1Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York.
Biological psychiatry global open science
|December 1, 2025
概括
遗传因素导致自闭症谱系障碍 (ASD) 病例的早产. 这项研究探讨了在不同祖先中早产和ASD异质性之间的遗传联系,发现了祖先特定的位置和14%的常见变异遗传性.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 围产期健康 围产期健康
背景情况:
- 自闭症谱系障碍 (ASD) 呈现出显著的临床变异性.
- 过早分娩是已知的ASD风险因素,影响约13%的个体.
- 遗传变异,早产和ASD异质性之间的相互作用尚未得到充分理解.
研究的目的:
- 研究与ASD患者早产相关的遗传因素.
- 探索遗传变异,早产和不同祖先的ASD异质性之间的关系.
- 评估常见遗传变异对ASD早产的贡献.
主要方法:
- 全基因组关联研究 (GWAS) 在SPARK队列中的三个祖先群体 (非洲/非洲裔美国人,混合美国人,非芬兰欧洲人) 中进行.
- 使用METAL.进行了对早产病例和对照病例的元分析.
- 使用功能映射,基因分析和多基因风险评分 (PRS) 计算.
主要成果:
- 在ASD病例中发现了与早产相关的祖先特异性遗传位置.
- 估计有14%的单核酸多态遗传性表明了来自常见遗传变异的贡献.
- 在一般人群中,多基因对早产的责任与某些先天性异常有关.
结论:
- 这些发现强调了在ASD异质性中考虑各种祖先和早期暴露的重要性.
- 未来的研究应该专注于更大的样本大小和罕见变异在早产和ASD中的作用.
- 需要进一步的研究来澄清怀孕时间与ASD的临床/遗传差异之间的联系.
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