Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population

A large meta-analysis recently identified six new loci associated with risk of PD, but subsequent studies have given discrepant results. Here we conducted a case-control study in a Han Chinese population in an attempt to clarify risk associations in Chinese. Among the four single-nucleotide polymorphisms (SNPs) that we examined - VPS13C-rs2414739, MIR4697-rs329648, GCH1-rs11158026, and SIPA1L2- rs10797576 we detected a significant association between rs329648 and risk of developing PD in a recessive model. This association remained significant after adjusting for gender and age (OR 1.87, 95%CI 1.295-2.694, p = 8.21 × 10−4) or Bonferroni correction. The T allele of rs329648 occurred significantly more frequently among patients with PD than among healthy controls (OR 1.22, 95%CI 1.033-1.443, p = 0.02), while there was no statistic significant after Bonferroni correction. Subgroup analysis showed a significant association specifically among males in a recessive model (OR 1.943, 95%CI 1.200-3.147, p = 0.007). In contrast, genotye and allele frequencies at rs329648 did not differ significantly between female patients with PD and healthy female controls, or between patients with early-onset or late-onset PD. Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697.