PLXNA4基因多态性与AD关键脑区体积的关联

ASSOCIATION OF PLXNA4 POLYMORPHISMS WITH THE VOLUME OF KEY BRAIN REGIONS IN ALZHEIMER DISEASE

目的探讨Plexin A4(PLXNA4)基因多态性与阿尔茨海默病(AD)关键脑区体积的关联。方法从AD神经影像学数据库中选取812例受试者,进行为期2年的随访,运用多元线性回归模型分析PLXNA4基因型与AD的神经影像学表型之间是否有关联。结果携带PLXNA4基因位点rs6467431突变基因型AA可明显减缓双侧海马及右侧海马旁回体积的萎缩,携带rs1863015位点突变基因型GG则可显著减缓双侧海马及左侧颞中叶体积的萎缩。结论 PLXNA4基因型分布与AD关键脑区的体积变化密切相关,PLXNA4基因多态性可能影响AD相关神经影像学表型。

Objective To investigate the association of PLXNA4 polymorphisms with the volume of key brain regions in Alzheimer disease（AD）. Methods A total of 812 subjects were selected from the AD Neuroimaging Initiative database and were followed up for two years.The multiple linear regression model was used to investigate the association between PLXNA4 genotypes and neuroimaging phenotypes of AD. Results After the 2-year follow-up,subjects with PLXNA4 rs6467431 AA genotype had marked alleviation of atrophy of the bilateral hippocampus and the right parahippocampal gyrus,and those with rs1863015 GG genotype had marked alleviation of atrophy of the bilateral hippocampus and the left middle temporal lobe. Conclusion The distribution of PLXNA4 genotypes is closely associated with the change in the volume of key brain regions in AD.PLXNA4 polymorphism might influence the neuroimaging phenotype of AD.