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<p>Proteins encoded by exons are critical for cellular functions, and mutations in these genes often result in significant phenotypic effects. The cerebellum is linked to various heritable human disease phenotypes, yet genome-wide association studies have struggled to capture the effects of rare variants on cerebellar traits. This study conducts a large-scale exome association analysis using data from approximately 35,000 UK Biobank participants, examining seven cerebellar traits, including total cerebellar volume and white matter microstructure. We identify 90 genes associated with cerebellar traits, 60 of which were previously unreported in genome-wide association studies. Notable findings include the discovery of genes like <i>PRKRA</i> and <i>TTK</i>, as well as <i>RASGRP3</i>, linked to cerebellar volume and white matter microstructure. Gene enrichment analysis reveals associations with non-coding RNA processing, cognitive function, neurodegenerative diseases, and mental disorders, suggesting shared biological mechanisms between cerebellar phenotypes and neuropsychiatric diseases.</p>

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Exome sequencing identifies novel genes associated with cerebellar volume and microstructure

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月1日

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  • Yuanyuan Liang,
  • Dongrui Ma,
  • Mengjie Li,
  • Zhiyun Wang,
  • Chenwei Hao,
  • Yuemeng Sun,
  • Xiaoyan Hao,
  • Chunyan Zuo,
  • Shuangjie Li,
  • Yanmei Feng,
  • Shasha Qi,
  • Yunpeng Wang,
  • Shilei Sun,
  • Yu-Ming Xu,
  • Ole A. Andreassen,
  • Changhe Shi

摘要

Proteins encoded by exons are critical for cellular functions, and mutations in these genes often result in significant phenotypic effects. The cerebellum is linked to various heritable human disease phenotypes, yet genome-wide association studies have struggled to capture the effects of rare variants on cerebellar traits. This study conducts a large-scale exome association analysis using data from approximately 35,000 UK Biobank participants, examining seven cerebellar traits, including total cerebellar volume and white matter microstructure. We identify 90 genes associated with cerebellar traits, 60 of which were previously unreported in genome-wide association studies. Notable findings include the discovery of genes like PRKRA and TTK, as well as RASGRP3, linked to cerebellar volume and white matter microstructure. Gene enrichment analysis reveals associations with non-coding RNA processing, cognitive function, neurodegenerative diseases, and mental disorders, suggesting shared biological mechanisms between cerebellar phenotypes and neuropsychiatric diseases.