Association of DYRK1A polymorphisms with sporadic Parkinson's disease in Chinese Han population
Association of DYRK1A polymorphisms with sporadic Parkinson's disease in Chinese Han population
复制标题
DYRK1A多态性与中国汉族人群散发性帕金森病的相关性
DOI：
10.1016/j.neulet.2016.08.022
复制
发表时间：
2016-10-06
影响因子：
2.5
通讯作者：
Xu, Pingyi
中科院分区：
文献类型：
--
作者：
Cen, Luan;Xiao, Yousheng;Xu, Pingyi
alpha-Synuclein plays important roles in the development of Parkinson's disease (PD) pathologies. The dual specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) has a wide range of phosphorylation targets including alpha-synuclein. Posphorylated alpha-synuclein is more neurotoxic to dopamine (DA) neurons, but little is known about the genetic variation of DYRK1A in patients with PD. The present investigation aimed to explore the possible association of DYRK1A gene with PD in Chinese Han population. A total of 268 PD patients and 268 healthy-matched individuals in Chinese Han population were enrolled. Genotyping of rs8126696, rs2835740, and rs1137600 single nucleotide polymorphisms (SNPs) were performed on the Sequenom MassARRAY platform. Results revealed TT genotype in SNP rs8126696 denoted a significant difference between PD patients and controls (OR=1.710, 95% CI=1.116-2.619, P = 0.014), and the frequency of rs8126696 TT genotype was significantly higher in male PD patients than male controls (OR=2.012, 95%CI: 1.125-3.599, p = 0.018). The genotypes in rs2835740 and rs1137600 showed no significant difference between PD patients and controls. These results suggest that TT genotype derived from SNP rs8126696 of DYRK1A gene is a possible risk factor for sporadic PD, especially for males in this Chinese Han population. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
