The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer’s disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study was to investigate genetic influences of CR1 gene on Aβ metabolism. All data of AD patients and normal controls (NC) were obtained from alzheimer’s disease neuroimaging initiative database (ADNI) database. In order to assess the effect of each single nucleotide polymorphism (SNP) of CR1 on Aβ metabolism, the PLINK software was used to conduct the quality control procedures to enroll appropriate SNPs. Moreover, the correlation between CR1 genotypes and Aβ metabolism in all participants were estimated with multiple linear regression models. After quality control procedures, a total of 329 samples and 83 SNPs were enrolled in our study. Moreover, our results identified five SNPs (rs10494884, rs11118322, rs1323721, rs17259045 and rs41308433), which were linked to Aβ accumulation in brain. In further analyses, rs17259045 was found to decrease Aβ accumulation among AD patients. Additionally, our study revealed the genetic variants in rs12567945 could increase CSF Aβ42 in NC population. Our study had revealed several novel SNPs in CR1 genes which might be involved in the progression of AD via regulating Aβ accumulation. These findings will provide a new basis for the diagnosis and treatment AD.

中文翻译：

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CR1遗传变异对阿尔茨海默氏病脑脊液和神经影像生物标志物的影响。

补体成分（3b / 4b）受体1基因（CR1）基因已被证明会影响不同种族和地区群体的阿尔茨海默氏病（AD）的易感性。然而，CR1基因变异对AD人淀粉样蛋白β（Aβ）代谢的影响尚不清楚。因此，本研究的目的是研究CR1基因对Aβ代谢的遗传影响。AD患者和正常对照（NC）的所有数据均来自阿尔茨海默氏病神经影像主动数据库（ADNI）。为了评估CR1的每个单核苷酸多态性（SNP）对Aβ代谢的影响，使用PLINK软件进行质量控制程序以注册适当的SNP。此外，所有受试者的CR1基因型与Aβ代谢之间的相关性均通过多元线性回归模型进行了估算。经过质量控制程序后，我们的研究共纳入329个样品和83个SNP。此外，我们的结果确定了五个SNP（rs10494884，rs11118322，rs1323721，rs17259045和rs41308433），它们与大脑中的Aβ积累有关。在进一步的分析中，发现rs17259045可以减少AD患者中的Aβ积累。此外，我们的研究表明rs12567945中的遗传变异可能增加NC人群中的CSFAβ42。我们的研究揭示了CR1基因中的几种新型SNP，它们可能通过调节Aβ的积累参与AD的发展。这些发现将为AD的诊断和治疗提供新的依据。它们与大脑中的Aβ积累有关。在进一步的分析中，发现rs17259045可以减少AD患者中的Aβ积累。此外，我们的研究表明rs12567945中的遗传变异可能增加NC人群中的CSFAβ42。我们的研究揭示了CR1基因中的几种新型SNP，它们可能通过调节Aβ的积累参与AD的发展。这些发现将为AD的诊断和治疗提供新的依据。它们与大脑中的Aβ积累有关。在进一步的分析中，发现rs17259045可以减少AD患者中的Aβ积累。此外，我们的研究表明rs12567945中的遗传变异可能增加NC人群中的CSFAβ42。我们的研究揭示了CR1基因中的几种新型SNP，它们可能通过调节Aβ的积累参与AD的发展。这些发现将为AD的诊断和治疗提供新的依据。