Eur Arch Psychiatry Clin Neurosci. 2012 Sep;262(6):529-34. doi: 10.1007/s00406-012-0295-x.
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 Ab42 levels in AD. These results strengthen the functional role of SORL1 in AD.
神经元 SORL1 相关受体 A 型重复（SORL1，也称为 LR11 或 sorLA）参与淀粉样蛋白形成，SORL1 基因是阿尔茨海默病（AD）的主要危险因素。我们研究了与 SORL1 基因变异相关的 AD 相关 CSF 生物标志物，这些变异与 105 名德国轻度认知障碍（MCI）和 AD 患者有关。单核苷酸多态性（SNP）4 的纯合 CC 等位基因与 AD 中 Tau 浓度的增加有关，SNP8、SNP9 和 SNP10 的次要等位基因以及这些 SNP 的 CGT 单倍型与 MCI 中 SORL1 浓度的增加有关。SNP22 和 SNP23 以及 SNP19-21-23 的 TCT 单倍型和 SNP22-23-24 的 TTC 单倍型与 AD 中 Ab42 水平的降低有关。这些结果加强了 SORL1 在 AD 中的功能作用。
