title: DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort.
abstract: BACKGROUND
  As dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD.
  
  
  METHODS
  We examined genetic variations of DYRK1A by genotyping haplotype tagging SNPs (htSNPs) (rs11701483, rs2835740, rs1137600, rs2835761, rs2835762, rs2154545 and rs8132976) in a group of 634 Spanish AD cases and 733 controls.
  
  
  RESULTS
  There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by APOE epsilon4 allele.
  
  
  CONCLUSIONS
  Our negative findings in the Spanish population argue against the hypothesis that DYRK1A genetic variations are causally related to AD risk. Still, additional studies using different sets of patients and control subjects deserve further attention, since supporting evidence for association between DYRK1A gene and AD risk in the Japanese population exists.
authors.affiliation: Neurology Service and CIBERNED, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain. josevazquezhiguera@hotmail.com
authors.forename: José Luis
authors.initials: JL
authors.lastname: Vázquez-Higuera
authors.forename: Pascual
authors.initials: P
authors.lastname: Sánchez-Juan
authors.forename: Eloy
authors.initials: E
authors.lastname: Rodríguez-Rodríguez
authors.forename: Ignacio
authors.initials: I
authors.lastname: Mateo
authors.forename: Ana
authors.initials: A
authors.lastname: Pozueta
authors.forename: Ana
authors.initials: A
authors.lastname: Frank
authors.forename: Isabel
authors.initials: I
authors.lastname: Sastre
authors.forename: Fernando
authors.initials: F
authors.lastname: Valdivieso
authors.forename: José
authors.initials: J
authors.lastname: Berciano
authors.forename: María J
authors.initials: MJ
authors.lastname: Bullido
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012307:Risk Factors; D013030:Spain; D000097603:Dyrk Kinases
chemical_list: D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D000097603:Dyrk Kinases