title: Association of DYRK1A polymorphisms with sporadic Parkinson's disease in Chinese Han population.
abstract: α-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 α-synuclein. Posphorylated α-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.
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530000, China.
authors.forename: Luan
authors.initials: L
authors.lastname: Cen
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530000, China.
authors.forename: Yousheng
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangdong, 510080, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wei
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangdong, 510120, China.
authors.forename: Mingshu
authors.initials: M
authors.lastname: Mo
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Chen
authors.affiliation: Ann Romney Center for Neurologic Disease, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
authors.forename: Shaomin
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Neurology, The Second Affiliated Hospital of Xinjiang Medical University, Urumqi, 830011, China. Electronic address: xinlingyang163@163.com.
authors.forename: Xingling
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangdong, 510120, China.
authors.forename: Qinghui
authors.initials: Q
authors.lastname: Huang
authors.affiliation: Department of Blood Transfusion, The Fifth Affiliated Hospital, Southern Medical University, Guangzhou, Guangdong, 510900, China.
authors.forename: Shaogang
authors.initials: S
authors.lastname: Qu
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.
authors.forename: Zhong
authors.initials: Z
authors.lastname: Pei
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangdong, 510120, China. Electronic address: pingyixu@sina.com.
authors.forename: Pingyi
authors.initials: P
authors.lastname: Xu
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012307:Risk Factors; D012737:Sex Factors; D000097603:Dyrk Kinases
chemical_list: D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D000097603:Dyrk Kinases
keywords: DYRK1A gene; Parkinson’s disease (PD); Single nucleotide polymorphisms (SNPs)