Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients

Sequence variants in SLC41A1 (solute carrier family 41 member 1) within the PARK16 locus have been reported to be associated with Parkinson's disease (PD). We performed direct DNA sequencing of the SLC41A1 gene in 100 early-onset PD cases. A novel intron variant (NM_173854.5:c.993-90delA) and a known synonymous-coding variant (NM_173854.5:c.339 C>T, causing p.Thr113Thr, rs11240569) were identified in the SLC41A1 gene. Then we genotyped the rs11240569 variant in a total of 2237 Han Chinese comprising of 1063 sporadic PD and 1174 controls to investigate the association with risk of PD, we also conducted further stratified analysis according to age at onset and compared the clinical characteristics of CC + CT subjects with TT subjects. In this study, we confirmed that the C allele of SLC41A1 (rs11240569) polymorphism reduces the risk to develop sporadic PD (P = 0.018). Additionally, subjects with CC + CT genotypes have a reduced risk compared to those with TT genotype (P = 0.022), the association was modestly seen among the younger age group (P = 0.05), but was not significant among the older age group (P = 0.641). Besides, we demonstrated that CC + CT subjects cannot be distinguished from TT subjects based on their clinical features. Our study, the first demonstrates that SLC41A1 (rs11240569) is associated with a lower risk of PD in a Han Chinese population from mainland China.