口吃的大规模基因组分析，这一成果由美国范德比尔特大学Jennifer E. Below研究团队经过不懈努力而取得。2025年7月28日出版的《自然—遗传学》杂志发表了这一最新研究成果。

小组推断，在性别和祖先群体中，有共同的和不同的遗传变异影响口吃风险。为了验证这一观点，课题组人员对自我报告的口吃进行了八次主要的全基因组关联分析，这些分析按性别和血统分层，并对100多万人（99776例和1023243例对照）进行了二次荟萃分析，确定了57个独特的位点。课题组在两个独立的数据集中验证了自我报告的口吃的遗传风险。小组进一步展示了口吃与自闭症、抑郁症和化学节律受损的遗传相似性，并通过后续分析强调了这些特征之间潜在的因果关系。他们的发现为研究口吃背后的遗传因素提供了强有力的见解。

据悉，发展性口吃是一种高度遗传性的、常见的语言状况，其特征是言语的延长、障碍和重复。虽然口吃是高度可遗传的，并且在家庭中丰富，但遗传结构在很大程度上没有得到充分的研究。

附：英文原文

Title: Large-scale genome-wide analyses of stuttering

Author: Polikowsky, Hannah G., Scartozzi, Alyssa C., Shaw, Douglas M., Pruett, Dillon G., Chen, Hung-Hsin, Petty, Lauren E., Petty, Alexander S., Lowther, Emily J., Cho, Shu-Hsien, Yu, Yao, Mozaffari, Sahar, Avery, Christy L., Harris, Kathleen Mullan, Gordon, Reyna L., Beilby, Janet M., Viljoen, Kathryn Z., Jones, Robin M., Huff, Chad D., Highland, Heather M., Kraft, Shelly Jo, Below, Jennifer E.

Issue&Volume: 2025-07-28

Abstract: Developmental stuttering is a highly heritable, common speech condition characterized by prolongations, blocks and repetitions of speech. Although stuttering is highly heritable and enriched within families, the genetic architecture is largely understudied. We reasoned that there are both shared and distinct genetic variants impacting stuttering risk within sex and ancestry groups. To test this idea, we performed eight primary genome-wide association analyses of self-reported stuttering that were stratified by sex and ancestry, as well as secondary meta-analyses of more than one million individuals (99,776 cases and 1,023,243 controls), identifying 57 unique loci. We validated the genetic risk of self-reported stuttering in two independent datasets. We further show genetic similarity of stuttering with autism, depression and impaired musical rhythm across sexes, with follow-up analyses highlighting potentially causal relationships among these traits. Our findings provide well-powered insights into genetic factors underlying stuttering.

DOI: 10.1038/s41588-025-02267-2

Source: https://www.nature.com/articles/s41588-025-02267-2