title: Association of DAPK1 genetic variations with Alzheimer's disease in Han Chinese.
abstract: Apoptosis and autophagy are common physiological and pathological processes in the human body. Death-associated kinase protein 1 (DAPK1), which participates in the process of cell death, has attracted people's attention for its potential risk with late-onset Alzheimer's disease (LOAD). A recent study identified two single nucleotide polymorphisms (SNPs) in DAPK1 that show significant association with LOAD in Caucasians. In order to clarify the role of these genetic variations in Chinese population, we examined the genetic variations of DAPK1/rs4877365 and DAPK1/rs4878104 in a group of 400 LOAD patients and 400 healthy controls. All samples were recruited from Northern Han Chinese population. Data collected from this study showed that there were significant differences in genotype (P=0.02) and allele (P=0.007) frequencies of DAPK1/rs4878104 but not in DAPK1/rs4877365 between LOAD patients and controls. The "C" allele of rs4878104 worked as a protective factor of LOAD (P=0.0026, odds ratio/OR=0.75) in Han Chinese. Logistic regression analysis revealed that homozygosity was strongly associated with LOAD under a recessive model (P=0.003, OR=0.23). No significant association was observed between rs4877365 and LOAD. Haplotype analysis identified the G/T haplotype as a risk factor for LOAD (P=0.007, OR=1.33, 95% CI=1.08-1.64). This study provides the evidence that variation in DAPK1 gene influences susceptibility to LOAD in the Northern Han Chinese population.
authors.affiliation: Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No. 5 Donghai Middle Road, Qingdao, Shandong Province 266071, PR China.
authors.forename: Zhong-Chen
authors.initials: ZC
authors.lastname: Wu
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Jin-Tai
authors.initials: JT
authors.lastname: Yu
authors.forename: Qun
authors.initials: Q
authors.lastname: Zhang
authors.forename: Yan
authors.initials: Y
authors.lastname: Tian
authors.forename: Rui-Chun
authors.initials: RC
authors.lastname: Lu
authors.forename: Nan-Nan
authors.initials: NN
authors.lastname: Yu
authors.forename: Zhao-Fu
authors.initials: ZF
authors.lastname: Chi
authors.forename: Lan
authors.initials: L
authors.lastname: Tan
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D017871:Calcium-Calmodulin-Dependent Protein Kinases / Q000235:genetics*; D064550:Death-Associated Protein Kinases; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; C579096:DAPK1 protein, human; D064550:Death-Associated Protein Kinases; D017871:Calcium-Calmodulin-Dependent Protein Kinases