Association of four new candidate genetic variants with Parkinson's disease in a Han Chinese population

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• 作者：Ling Wang ; Lan Cheng ; Nan-Nan Li ; Wen-Juan Yu ; Xiao-Yi Sun and Rong Peng
• 关键词：Parkinson's disease ; VPS13C ; MIR4697 ; GCH1 ; SIPA1L2 ; SNPs
• 刊名：American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：171
• 期：3
• 页码：342-347
• 全文大小：94K
• ISSN：1552-485X

文摘

Large-scale meta-analysis of genome-wide association data has identified six new risk loci (SIPA1L2, INPP5F, MIR4697, GCH1, VPS13C, and DDRGK1) for Parkinson's disease (PD). However, the characteristics of those loci in a Han Chinese population from mainland China are unknown. We examined genetic associations of VPS13C rs2414739, MIR4697 rs329648, GCH1 rs11158026, and SIPA1L2 rs10797576 with PD susceptibility in a Han Chinese population of 1028 sporadic PD patients and 1109 healthy controls. All subjects were genotyped for these loci using the Sequenom iPLEX Assay. We also conducted further stratified analysis according to age at onset and compared the clinical characteristics between minor allele carriers and non-carriers for each locus. However, we did not observe any significant difference in genotype distribution between PD patients and controls for the four loci, even after being stratified by age at onset. Besides, minor allele carriers cannot be distinguished from non-carriers based on their clinical features. Our findings first demonstrated that VPS13C rs2414739, MIR4697 rs329648, GCH1 rs11158026, and SIPA1L2 rs10797576 do not confer a significant risk for PD in Chinese population. Additional replication studies in other populations and functional studies are warranted to better validate the role of the four new loci in PD risk.