title: Association of AKT1 gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.
abstract: Genetic variants of AKT1 have been shown to influence brain function of Parkinson's disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese. 413 Han Chinese PD patients and 450 healthy age and gender-matched controls were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Both the patient and control groups show similar genotype frequencies at the three loci: rs2498799, rs2494732 and rs1130214. We are able to identify a significant difference in the frequencies of genotype (p=0.019) and G allele (OR=0.764, 95% CI=0.587-0.995, p=0.045) both at rs2498799 between the patient and control groups. Furthermore, the association of subjects with GG genotypes versus those with GA+AA genotype remain significant after adjusting for age in the Han Chinese female cohort (OR=0.538, 95%CI=0.345-0.841, p=0.006), which is especially evident in the late-onset cohort (OR=0.521, 95%CI=0.309-0.877, p=0.012). In contrast, allele frequencies at rs2494732 and rs1130214 were similar between patients and controls in all subgroup analyses. These results suggest that polymorphism of AKT1 locus is associated with risk of PD and that the G allele at rs2498799 may decrease the risk of PD in the North-eastern part of Han Chinese female population.
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China; Department of Neurology, Hospital of Integrated Traditional and Western Medicine, Qingdao, China.
authors.forename: Xiao-Yuan
authors.initials: XY
authors.lastname: Li
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Ji-Jun
authors.initials: JJ
authors.lastname: Teng
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Yu-Bin
authors.initials: YB
authors.lastname: Wu
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address: xieanmu@163.com.
authors.forename: An-Mu
authors.initials: AM
authors.lastname: Xie
mesh_terms: D044466:Asian People; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*
chemical_list: C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: AKT1; Parkinson’s disease (PD); Single nucleotide polymorphisms (SNPs)