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.

CONCLUSION:

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: José Luis Vázquez-Higuera, Pascual Sánchez-Juan, Eloy Rodríguez-Rodríguez, Ignacio Mateo, Ana Pozueta, Ana Frank, Isabel Sastre, Fernando Valdivieso, José Berciano, María J Bullido, Onofre Combarros
• Journal: BMC medical genetics (BMC Med Genet) Vol. 10 Pg. 129 (Dec 08 2009) ISSN: 1471-2350 [Electronic] England
• PMID: 19995442 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Dyrk kinase
• Protein-Tyrosine Kinases
• Protein Serine-Threonine Kinases

Topics

• Aged
• Aged, 80 and over
• Alzheimer Disease (genetics)
• Case-Control Studies
• Cohort Studies
• Female
• Genetic Predisposition to Disease
• Humans
• Male
• Middle Aged
• Polymorphism, Single Nucleotide
• Protein Serine-Threonine Kinases (genetics)
• Protein-Tyrosine Kinases (genetics)
• Risk Factors
• Spain