An association between the PARK16 locus and Parkinson's disease in a cohort from eastern China

Abstract

Genome-wide association studies (GWAS) have identified several single-nucleotide polymorphisms (SNPs) at the PARK16 locus that can modulate the risk of Parkinson's disease (PD), including rs16856139, rs823128, rs823122, rs947211, rs823156, rs708730 and rs11240572. The strength of these associations has been investigated in people from several ethnic origins, including Europe, Chile, Japan, Taiwan and western China. The results have shown that an ethnicity-specific effect is an important consideration in such an analysis. Therefore, we genotyped the above seven SNPs using a case-control methodology to explore their association with the risk of PD in eastern China. A total of 456 study subjects comprising 226 patients with PD and 230 unrelated healthy controls were recruited. The minor allele frequencies at the rs16856139 and rs11240572 SNPs were found to be significantly higher in controls than in PD cases, which suggested that they conferred a protective effect against PD. Further analyses from more diverse ethnic origins are required to confirm the significance of rs16856139 and rs11240572.