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<p>Genome-wide association studies (GWAS) implicate noncoding variation at the <i>SNCA</i> locus in Lewy body dementia (LBD) and idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD), yet underlying regulatory mechanisms remain poorly understood. Integrative analyses combining GWAS, eQTL, sQTL, and regulatory annotations reveal a cortical-biased 5′ <i>SNCA</i> regulatory haplotype associated with reduced <i>SNCA</i>-AS1 expression and altered <i>SNCA</i> 5′ UTR splicing, highlighting candidate functional variants for future experimental validation.</p>

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Noncoding variation and regulatory control of SNCA in Lewy body dementia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月27日

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  • Eunsung Junn

摘要

Genome-wide association studies (GWAS) implicate noncoding variation at the SNCA locus in Lewy body dementia (LBD) and idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD), yet underlying regulatory mechanisms remain poorly understood. Integrative analyses combining GWAS, eQTL, sQTL, and regulatory annotations reveal a cortical-biased 5′ SNCA regulatory haplotype associated with reduced SNCA-AS1 expression and altered SNCA 5′ UTR splicing, highlighting candidate functional variants for future experimental validation.