Gao Shan, Hao Jia-Wei, Zhao Ya-Nan, Li Xuan, Wang Tao, Han Zhi-Fa, Sun Bao-Liang, Sun Jing-Yi, Liu Gui-You
Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.
Department of Interventional Radiology and Vascular Surgery, Affiliated Hospital of Hebei University, Baoding, Hebei, China.
Front Neuroinform. 2022 Oct 20;16:1006164. doi: 10.3389/fninf.2022.1006164. eCollection 2022.
Since 2011, three large-scale genome-wide association studies (GWAS) have confirmed that the CD2AP rs9349407 polymorphism is significantly connected with Alzheimer's disease (AD) in individuals of European descent. Subsequently, this association has been replicated in European populations, but is unclear whether it can be replicated in Chinese. Recently, the correlation between rs9349407 and AD in the Chinese population has become a research hotspot.
To explore the association between rs9349407 polymorphism and AD in the Chinese population.
Firstly, based on the exclusion and inclusion criteria, we selected 11 independent studies from 8 articles exploring the correlation between rs9349407 variation and AD in Chinese. Secondly, we conducted a meta-analysis based on fixed and random effect models and conducted a heterogeneity test. Thirdly, we used the additive model, dominant model, and recessive model for subgroup analysis.
We demonstrated that the CD2AP rs9349407 polymorphism increases AD susceptibility in Chinese populations (OR = 1.33, 95% CI = 1.08-1.64, = 7.45E-03), which is consistent with the effect observed in Caucasian populations. Additionally, subgroup analysis showed that rs9349407 under the additive model (GG + CC vs. GC, OR = 0.76, 95% CI = 0.61-0.97, = 2.04E-02) and dominant model (GG + GC vs. CC, OR = 0.49, 95% CI = 0.32-0.74, = 8.51E-04) were also significantly correlated with AD susceptibility, but not under the recessive model (GG vs. GC + CC, OR = 0.77, 95% CI = 0.58-1.03, = 7.44E-02).
These existing data suggest that rs9349307 is significantly correlated with the susceptibility to AD in the Chinese population, but future studies with large samples are needed to confirm our findings.
自2011年以来,三项大规模全基因组关联研究(GWAS)证实,CD2AP基因rs9349407多态性与欧洲血统个体的阿尔茨海默病(AD)显著相关。随后,这种关联在欧洲人群中得到了重复验证,但在中国人群中是否也能重复尚不清楚。最近,rs9349407与中国人群AD之间的相关性已成为研究热点。
探讨rs9349407多态性与中国人群AD的关联。
首先,根据纳入和排除标准,从8篇探讨rs9349407变异与中国人群AD相关性的文章中筛选出11项独立研究。其次,基于固定效应模型和随机效应模型进行荟萃分析,并进行异质性检验。第三,采用加性模型、显性模型和隐性模型进行亚组分析。
我们证明,CD2AP基因rs9349407多态性增加了中国人群患AD的易感性(OR = 1.33,95%CI = 1.08 - 1.64,P = 7.45E - 03),这与在白种人群中观察到的效应一致。此外,亚组分析表明,在加性模型(GG + CC与GC相比,OR = 0.76,95%CI = 0.61 - 0.97,P = 2.04E - 02)和显性模型(GG + GC与CC相比,OR = 0.49,95%CI = 0.32 - 0.74,P = 8.51E - 04)下,rs9349407也与AD易感性显著相关,但在隐性模型(GG与GC + CC相比,OR = 0.77,95%CI = 0.58 - 1.03,P = 7.44E - 02)下则不然。
这些现有数据表明,rs9349307与中国人群患AD的易感性显著相关,但需要未来的大样本研究来证实我们的发现。