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Genome-wide association studies highlight regulatory changes in SNCA linked to Lewy body dementia, suggesting functional variants.
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.
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Eunsung Junn (2026) studied this question.
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