No association of CDK5 genetic variants with Alzheimer's disease risk.
BACKGROUND
As cyclin-dependent kinase 5 (CDK5) 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 CDK5 by genotyping haplotype tagging SNPs (htSNPs) (rs9278, rs2069459, rs891507, rs2069454, rs1549759 and rs2069442) in a group of 408 Spanish AD cases and 444 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 CDK5 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 CDK5 gene and AD risk in the Dutch population exists.
Vázquez-Higuera
José Luis
JL
Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain. josevazquezhiguera@hotmail.com
Mateo
Ignacio
I
Sánchez-Juan
Pascual
P
Rodríguez-Rodríguez
Eloy
E
Infante
Jon
J
Berciano
José
J
Combarros
Onofre
O
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013030:Spain
D051360:Cyclin-Dependent Kinase 5; C495905:CDK5 protein, human