CDK5基因变异与阿尔茨海默病风险无关联。
No association of CDK5 genetic variants with Alzheimer's disease risk.
作者信息
Vázquez-Higuera José Luis, Mateo Ignacio, Sánchez-Juan Pascual, Rodríguez-Rodríguez Eloy, Infante Jon, Berciano José, Combarros Onofre
机构信息
Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.
出版信息
BMC Med Genet. 2009 Jul 17;10:68. doi: 10.1186/1471-2350-10-68.
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.
CONCLUSION
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.
背景
由于细胞周期蛋白依赖性激酶5（CDK5）与阿尔茨海默病（AD）大脑中tau蛋白的异常过度磷酸化以及神经原纤维缠结的形成有关，我们研究了该基因对AD易感性的影响。
方法
我们通过对408例西班牙AD患者和444例对照进行单倍型标签单核苷酸多态性（htSNPs）（rs9278、rs2069459、rs891507、rs2069454、rs1549759和rs2069442）基因分型，研究了CDK5的基因变异情况。
结果
在总体分析中或按APOE ε4等位基因分层后，病例组和对照组在基因型、等位基因或单倍型分布上均无差异。
结论
我们在西班牙人群中的阴性结果与CDK5基因变异与AD风险存在因果关系这一假设相悖。不过，鉴于荷兰人群中存在支持CDK5基因与AD风险相关联的证据，使用不同患者和对照样本的进一步研究仍值得关注。
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