PLA2G6 variants associated with the number of affected alleles in Parkinson’s disease in Japan

This study aimed to evaluate genotype-phenotype correlations of Parkinson’s disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA 798 PD, including 78 PD reported previously, and 336 in-house controls. screened exons exon-intron boundaries PLA2G6 using Ion Torrent system Sanger method. identified 21 18 rare variants, such that 1, 9, 11 were homozygous, heterozygous, compound respectively, respect The allele frequency was approximately equal between familial those sporadic PD. variants detected frequently in early-onset group. Patients who homozygous for a variant showed more severe symptoms than heterozygous variant. most common p.R635Q our cohort, which considered risk Thus, may play role