SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer's disease
SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer's disease
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DOI：
10.1007/s00406-012-0295-x
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发表时间：
2012-09-01
影响因子：
4.7
通讯作者：
Perneczky, Robert
中科院分区：
文献类型：
--
作者：
Guo, Liang-Hao;Westerteicher, Christine;Perneczky, Robert
具有A型重复序列的神经元分拣蛋白相关受体（SORL 1，也称为LR 11或sorLA）参与淀粉样蛋白生成，SORL 1基因是阿尔茨海默病（AD）的主要危险因素。我们在105名患有轻度认知功能障碍（MCI）和AD的德国患者中研究了AD相关CSF生物标志物与SORL 1遗传变异的相关性。单核苷酸多态性（SNP）4的纯合CC等位基因与AD中Tau浓度的增加相关，SNP 8、SNP 9和SNP 10的次要等位基因以及这些SNP的单倍型CGT与MCI中SORL 1浓度的增加相关。SNP 22和SNP 23、SNP 19 -21-23单倍型TCT和SNP 22 -23-24单倍型TTC与AD患者A β 42水平降低相关。这些结果加强了SORL 1在AD中的功能作用。
The neuronal sortilin-related receptor with A-type repeats (SORL1, also called LR11 or sorLA) is involved in amyloidogenesis, and the SORL1 gene is a major risk factor for Alzheimer's disease (AD). We investigated AD-related CSF biomarkers for associations with SORL1 genetic variants in 105 German patients with mild cognitive impairment (MCI) and AD. The homozygous CC-allele of single nucleotide polymorphism (SNP) 4 was associated with increased Tau concentrations in AD, and the minor alleles of SNP8, SNP9, and SNP10 and the haplotype CGT of these SNPs were associated with increased SORL1 concentrations in MCI. SNP22 and SNP23, and the haplotypes TCT of SNP19-21-23, and TTC of SNP22-23-24 were correlated with decreased A beta 42 levels in AD. These results strengthen the functional role of SORL1 in AD.