rs11987642 - RPS3AP30 - SNRPCP6

Magnitude 2.0 · 1 study on file

Reported associations

• Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population - NPJ Parkinson's disease (2025) · Hao X, Xiao X, Weng L, Lin Z, Xu Q, Du J, Yang Q, Zhu Y, Liu Y, Xu T, Zhou Y, Liao X, Guo J, Luo S, Wang J, Yan X, Tang B, Li J, Jiao B, Shen L · PubMed 40374660

  ABSTRACT: Genetic investigations and associations with plasma biomarkers of dementia with Lewy bodies (DLB) in East Asian populations are lacking. The aim of our study is to identify candidate pathogenic variants and assess the diagnostic performance of plasma biomarkers among DLB patients in the Chinese population. This cohort included 151 DLB patients and 2010 controls, all of whom underwent whole genome sequencing. Plasma glial fibrillary acidic protein (GFAP), α-synuclein(αSyn), neurofilament light (NfL), and phosphorylated tau 217 (p-tau217) were detected in a subgroup. As a result, the APOE ε4 allele significantly increased DLB risk (p = 1.84E-11), while rare missense variants of USP13 gene were first found to be suggestively associated with DLB risk (p = 1.31E-5). Higher

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.