对中国汉族人群阿尔茨海默病患者CUGBP2 and DNMBP遗传相关性研究

Title:Genetic Association of CUGBP2 and DNMBP with Alzheimer’ s Disease in the Chinese Han Population

Volume: 12 Issue: 3

Author(s): Ping Yang, Miao Xu, Zhi-Jun Liu, Qing-Qing Tao, Shen-Ji Lu, Hong-Lei Li, Qi-Hao Guo, Yi-Min Sun and Zhi-Ying Wu

Affiliation:

关键词: 阿尔茨海默病；相关性；中国人；CUGBP2；DNMBP；单核苷酸多态性。

摘要: Objective: Recently, candidate genetic studies revealed the single nucleotide polymorphisms (SNPs) of CUGBP2 (rs2242451) and DNMBP (rs11190305 and rs3740058) associated with Alzheimer’s disease (AD). Due to genetic heterogeneity and different ethnic background, the purpose of our study was to confirm the association between these 3 SNPs with AD risk in the Chinese Han population. Methods: We investigated 482 sporadic AD (SAD) patients and 813 unrelated cognitive normal controls of the Chinese Han population. The genotypes of the 3 SNPs (rs2242451, rs11190305, rs3740058) were carried out by MassARRAY iPLEX system. Results: The genotype and the allele frequency of rs2242451 were significantly different between AD and control group in total subject (genotype: p=0.019, allele frequency: p=0.022, OR=0.760, 95%CI=0.601- 0.962) with A allele decreasing AD risk. After stratification by age at onset, gender, APOE ε4 carrying status and homozygous APOE ε4, the protective effect of A allele remained in female and APOE ε4ε4 non-carrying subgroups. The rs3740058 in DNMBP was significantly differently in genotype between AD and control in APOE ε4ε4 subgroup, but showed no effect on AD risk, either did rs11190305 polymorphisms in DNMBP. Meta-analysis was performed in rs11190305 and rs3740058 of DNMBP respectively. Positive relationship with AD was found in rs11190305 (OR=1.11, 95%CI=1.01-1.21), but not in rs3740058 (OR=1.05, 95%CI=0.98-1.13). Moreover, the genotypes of these 3 SNPs had no effect on age at onset of AD. Conclusion: The A allele of rs2242451 in CUGBP2 might decrease SAD risk in the Chinese Han population.

Cite this article as:

Ping Yang, Miao Xu, Zhi-Jun Liu, Qing-Qing Tao, Shen-Ji Lu, Hong-Lei Li, Qi-Hao Guo, Yi-Min Sun and Zhi-Ying Wu , Genetic Association of CUGBP2 and DNMBP with Alzheimer’ s Disease in the Chinese Han Population, Current Alzheimer Research 2015; 12 (3) . https://dx.doi.org/10.2174/156720501203150317151426