Research articleAnalysis of several loci from genome-wide association studies in Parkinson's disease in mainland China

- To investigate the association between several GWAS loci and sporadic PD in Chinese individuals.
- We find RAB7L1 rs708723 is associated with PD in Chinese population.
- GPNMB rs156429 polymorphism may be associated with male PD in Chinese individuals.
- NMD3 rs34016896 and STBD1 rs6812193 may not be associated with PD in Chinese Han population.

Large-scale meta-analyses of genome-wide association studies in Parkinson's disease (PD) have identified a number of susceptibility loci in sporadic PD. Since the characteristics of those loci in a Han Chinese population from mainland China were unknown, we performed a case-control replication study in this population and evaluated several single nucleotide polymorphisms (SNPs) identified in a recent GWAS-meta-analysis. In total, 933 subjects comprised of 460 PD patients and 473 controls were genotyped. We found strong evidence of an association for rs708723 in RAB7L1 in the total sample (genotype p = 0.01, allele p = 0.01, OR = 0.78, 95% CI = 0.65-0.94). With rs156429 in GPNMB, there was a significant difference in genotype and allele distribution between male PD patients and the control subgroup (genotype p = 0.01, allele p = 0.01, OR = 0.67, 95% CI = 0.49-0.92). However, we did not observe any significant difference in genotype or allele distribution between PD and control for rs34016896 in NMD3 and rs6812193 in STBD1.