RESUMO
INTRODUCTION: GWAS meta-analysis identified RIT2 rs12456492 and STX1B rs4889603 as PD susceptible loci. While proteins encoded by the genes, in particular RIT2, may involve in PD pathogenesis, the association of these two variants with PD remains to be further clarified. METHODS: We enrolled a Chinese cohort comprising 537 PD patients and 517 controls, determined the genotypes of rs12456492 and rs4889603, and analyzed these variants in relation to PD. RESULTS: Both rs12456492 and rs4889603 were associated with PD susceptibility (P = 0.012 and 0.03, respectively). The G allele of rs12456492 and the A allele of rs4889603 served as risk alleles toward PD. Statistical differences in genotype distribution between the patients and controls were observed both in rs12456492 (marginal, P = 0.042 for GG vs. AG vs. AA) and in rs4889603 (P = 0.021 for AA + AG vs. GG) CONCLUSION: Our data suggest that the RIT2 and STX1B polymorphisms are associated with PD etiology. The role of RIT2 in PD pathogenesis warrants further mechanistical investigation.
