Comprehensive variant analysis of phospholipase A2 superfamily genes in large Chinese Parkinson' s disease cohorts

Mech Ageing Dev. 2024 Jun:219:111940. doi: 10.1016/j.mad.2024.111940. Epub 2024 May 14.

Abstract

To clarify the genetic role of phospholipase A2 (PLA2) genes in Parkinson's disease (PD), we performed a genetic association study in large Chinese population cohorts 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 these two cohorts, respectively. In both cohorts, we observed suggestive associations between specific subgroups and the risk of PD. At the single-gene level, several genes (PLA2G2D, PLA2G12A, PLA2G12B, PLA2G4F, PNPLA1, PNPLA3, PNPLA7, PLA2G7, PLA2G15, PLAAT5, and ABHD12) are suggestively associated with PD. 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 PD.

Keywords: Burden analysis; Common variants; Parkinson’s disease; Phospholipase A2; Rare variants.

MeSH terms

  • Aged
  • Asian People / genetics
  • China / epidemiology
  • Cohort Studies
  • East Asian People
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease* / genetics
  • Phospholipases A2* / genetics

Substances

  • Phospholipases A2