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在患有自闭症的非裔美国人中,常见和罕见的变异性遗传贡献

Matilde Cirnigliaro¹, Jennifer K Lowe^1,2, Alexander O Flynn-Carroll^3,4

¹Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

medRxiv : the preprint server for health sciences

|December 3, 2025

概括

对自闭症谱系障碍 (ASD) 的遗传研究缺乏多样性. 这项研究分析了患有自闭症的非裔美国人 (AfrAm),揭示了对常见和罕见遗传变异的关键见解,这对于推进神经发育障碍研究至关重要.

科学领域:

遗传学遗传学是一种遗传学.
神经发育障碍神经发育障碍
精准医学是一门精准的医学.

背景情况:

在神经发育和神经精神疾病的遗传研究中,非欧洲人队伍的代表性不足.
这种缺失限制了对遗传结构的理解,并阻碍了针对自闭症谱系障碍 (ASD) 等疾病的精准医学.

研究的目的:

为了研究非裔美国人 (AfrAms) 的ASD遗传结构.
分析ASD的AfrAms中常见和罕见的遗传变异.
为了比较欧洲 (EUR) 和非洲 (AFR) 的遗传推断祖先 (GIA) 的遗传因素.

主要方法:

招募了ASD的AfrAms进行遗传分析.
进行全球和本地祖先分析以表征添加剂.
进行了全基因组关联研究 (GWAS) 和分析了多基因分数 (PGS).
识别了罕见的副本数变体 (CNVs) 和新的变体.

主要成果:

对于ASD的常见变异遗传效应大小在欧洲和非洲的GIA中是一致的.
欧元衍生品PGS显示出有限的可转移到AFR GIA.
在两个GIA中,对高影响的罕见CNV发现了显著的关联.
在AFR GIA载体中发现了候选ASD位点 (例如,SMC2,DMTN).
已知ASD相关基因的罕见变异在AFR GIA自闭症携带者中被耗尽.

结论:

这项研究提供了首次详细分析了非洲Ams中ASD的常见和罕见遗传贡献.
在基因组研究中包括像AfrAms这样多样化的种群对于推进对神经发育障碍的理解至关重要.
这些发现强调了需要多元化的队列来改善ASD遗传发现和精确医学.

关键词:

在非洲,非洲人是非洲人.欧洲欧洲欧洲欧洲欧洲欧洲在GWAS中,GWAS就是GWAS.提供PGS服务.自闭症谱系障碍自闭症谱系障碍新的PTV和错误的变体.发展障碍发展障碍发展障碍基因发现的发现在基因上推断出祖先.基因型定制是基因型定制.当地的祖先.神经发育障碍是一种神经发育障碍.pTDTTT 这是一个很好的方法.很少见的CNVs是罕见的.整体外因子测序的测序

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