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<p>Given the established association between numerous <i>GBA1</i> variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of <i>GBA1</i> variants on a wider spectrum of health-related traits. We identified 41 phenotypes associated with <i>GBA1</i> variants, 39 of which were unreported, including 21 non-neurological and 20 neurological phenotypes. Based on variant-level association tests, we found beyond the neurological phenotypes particularly decreased gray-white matter contrast measures across 13 distinct brain regions, the non-coding variant rs9628662 was associated with six non-neurological traits such as hypermetropia. Another non-coding variant rs3115534 showed associations with eight biomarkers of multiple categories, and an increased risk of benign digestive neoplasms. Notably, compared to protein-coding variant p.T408M, the rs3115534 had opposing effects on three hematological biomarkers. Additionally, gene-level association analyses revealed significant associations with three neurological diseases including Parkinson’s disease. The findings demonstrated that <i>GBA1</i> variants significantly impact various health-related traits.</p>

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A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月17日

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  • Jiaqi Yang,
  • Yuanfeng Huang,
  • Zheng Wang,
  • Shiyu Zhang,
  • Dai Wu,
  • Jiayi Xiong,
  • Heng Wu,
  • Yijing Wang,
  • Qiao Zhou,
  • Yixiao Zhu,
  • Guihu Zhao,
  • Bin Li,
  • Jifeng Guo,
  • Kun Xia,
  • Beisha Tang,
  • Jinchen Li

摘要

Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits. We identified 41 phenotypes associated with GBA1 variants, 39 of which were unreported, including 21 non-neurological and 20 neurological phenotypes. Based on variant-level association tests, we found beyond the neurological phenotypes particularly decreased gray-white matter contrast measures across 13 distinct brain regions, the non-coding variant rs9628662 was associated with six non-neurological traits such as hypermetropia. Another non-coding variant rs3115534 showed associations with eight biomarkers of multiple categories, and an increased risk of benign digestive neoplasms. Notably, compared to protein-coding variant p.T408M, the rs3115534 had opposing effects on three hematological biomarkers. Additionally, gene-level association analyses revealed significant associations with three neurological diseases including Parkinson’s disease. The findings demonstrated that GBA1 variants significantly impact various health-related traits.