title: Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese.
abstract: Tau-tubuline kinase 1 (TTBK1) is a recently discovered brain-specific protein kinase involved in tau phosphorylation at AD-related sites. A recent large study has identified significant association of two single nucleotide polymorphisms (SNPs) (rs2651206 and rs7764257) in the TTBK1 gene with late-onset Alzheimer's disease (LOAD) in Spanish. Here, we performed a case-control study to clarify whether the risk for LOAD might be influenced by these polymorphisms in a large Chinese cohort consisting of 400 patients and 388 healthy controls. The minor alleles of the rs2651206 polymorphism within TTBK1 was significantly associated with a reduced risk of LOAD (odds ratio/OR=0.69, P=0.011). Furthermore, rs2651206 polymorphism was still strongly associated with LOAD (OR=0.72, P=0.05) after adjusted for age, gender, and the apolipoprotein E (APOE) ɛ4 status. Haplotype analysis identified the TG haplotype, deriving from the two minor alleles, to decrease the risk of LOAD (OR=0.78, P=0.037). This study provides the evidence that variations in the TTBK1 gene may play an important role in the pathogenesis of sporadic LOAD in a Han Chinese population.
authors.affiliation: Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China.
authors.forename: Nan-Nan
authors.initials: NN
authors.lastname: Yu
authors.forename: Jin-Tai
authors.initials: JT
authors.lastname: Yu
authors.forename: Jian-Ting
authors.initials: JT
authors.lastname: Xiao
authors.forename: Hao-Wen
authors.initials: HW
authors.lastname: Zhang
authors.forename: Rui-Chun
authors.initials: RC
authors.lastname: Lu
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Zhen-Hua
authors.initials: ZH
authors.lastname: Xing
authors.forename: Lan
authors.initials: L
authors.lastname: Tan
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D001923:Brain Chemistry / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C095903:tau-tubulin kinase; D017346:Protein Serine-Threonine Kinases