Comprehensive Variant Analysis of Phospholipase A2 Superfamily Genes in Large Chinese Parkinson’ s Disease Cohorts

Mechanisms of Ageing and Development(2024)

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摘要
To clarify the genetic role of phospholipase A2 (PLA2) genes in Parkinson's disease, we performed a genetic association study in a large Chinese population cohort using next-generation sequencing. In this study, we analyzed both rare and common variants of 38 phospholipase A2 genes in two large cohorts. We detected 1558 and 1115 rare variants in the two cohort, respectively. In both cohorts, we observed suggestive associations between specific subgroups and Parkinson’s disease. At the single-gene level, several genes (PLA2G2D, PLA2G12A, PLA2G12B, PLA2G4F, PNPLA1, PNPLA3, PNPLA7, PLA2G7, PLA2G15, PLAAT5, and ABHD12) showed suggestive significance in Parkinson’s disease. Meanwhile, 364 and 2261 common variants were identified in two cohorts, respectively. Our study has expanded the genetic spectrum of the PLA2 family genes and suggested potential pathogenetic roles of PLA2 superfamily in Parkinson's disease.
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关键词
Phospholipase A2,Rare variants,Common variants,Burden analysis,Parkinson’s disease
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