medRxiv : the preprint server for health sciences · 2026
Retinal Transcriptome-Wide Association Study Identifies Novel Alzheimer's Disease Risk Genes.
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Zhang Yinuo, Chen Brian, Sun Huaigu, Shi Ruhao, Li Yun, Du Jiawen, Horimoto Andrea R V R
Аннотация
INTRODUCTION: Alzheimer's disease (AD) is the leading cause of dementia worldwide. The retina shares molecular pathways with the brain, yet no study has systematically linked retinal gene expression to AD risk.
METHODS: We performed transcriptome-wide association studies (TWAS) using two independent retinal eQTL panels (Strunz et al., n = 311; EyeGEx, n = 406) and a large meta-analyzed AD genome-wide association study (GWAS) (Bellenguez et al., 111,326 cases, 677,663 controls). Genes were further validated with GWAS in the independent Alzheimer's Disease Sequencing Project (ADSP) using a matched eQTL-panel strategy.
RESULTS: We identified 62 AD-associated genes across the two eQTL panels using Bellenguez et al. as the discovery cohort. Of these, 31 were replicated in the ADSP cohort. The findings highlight shared complement-mediated immune dysregulation (CD55, CD46, TREM2) and provide functional transcriptomic evidence to prioritize novel causal drivers of AD pathogenesis, including STYX and the LRRC37 gene family.
DISCUSSION: Retinal data capture core AD genetic architecture and reveal novel risk genes, highlighting the retina as a molecularly informative tissue for dementia research.
METHODS: We performed transcriptome-wide association studies (TWAS) using two independent retinal eQTL panels (Strunz et al., n = 311; EyeGEx, n = 406) and a large meta-analyzed AD genome-wide association study (GWAS) (Bellenguez et al., 111,326 cases, 677,663 controls). Genes were further validated with GWAS in the independent Alzheimer's Disease Sequencing Project (ADSP) using a matched eQTL-panel strategy.
RESULTS: We identified 62 AD-associated genes across the two eQTL panels using Bellenguez et al. as the discovery cohort. Of these, 31 were replicated in the ADSP cohort. The findings highlight shared complement-mediated immune dysregulation (CD55, CD46, TREM2) and provide functional transcriptomic evidence to prioritize novel causal drivers of AD pathogenesis, including STYX and the LRRC37 gene family.
DISCUSSION: Retinal data capture core AD genetic architecture and reveal novel risk genes, highlighting the retina as a molecularly informative tissue for dementia research.