1Key Laboratory of Geriatrics, Beijing Hospital & Beijing Institute of Geriatrics, Ministry of Health , Beijing , China.
Int J Neurosci. 2014 Apr;124(4):296-301. doi: 10.3109/00207454.2013.850429. Epub 2013 Nov 7.
The neuronal sortilin-related receptor (SORL1) has been reported to modulate the risk of Alzheimer's disease (AD) in a variety of populations, but replication studies have been inconsistent. Amnestic mild cognitive impairment (aMCI) is characterized by episodic memory impairment and represents the prodromal stage of AD. However, the relationship between SORL1 and aMCI remains unclear. This study aimed to investigate the relationship between SORL1 genetic variation and aMCI in the Han Chinese population. We conducted a case-control study using a single-nucleotide polymorphism (SNP), rs668387 (SNP8), in the 5' region of SORL1, and three SNPs [rs2070045 (SNP19), rs3824968 (SNP23), rs2282649 (SNP24)] in the 3' region of SORL1, along with a haplotype analysis, in 139 aMCI patients and 213 cognitively-healthy controls from a northern Han Chinese population. We observed that SNP19 had a significantly different allele frequency between aMCI patients and controls (p = 0.006). Moreover, the GAT haplotype at SNPs 19-23-24 was associated with an increased risk of aMCI [odds ratio (OR) 1.377], while the TTC haplotype at SNPs 19-23-24 was associated with a decreased risk (OR 0.708). These results indicated that the SNPs in the 3' region of SORL1 are associated with aMCI in northern Han Chinese.
神经元分选相关受体 (SORL1) 已被报道在多种人群中调节阿尔茨海默病 (AD) 的风险，但复制研究结果并不一致。遗忘型轻度认知障碍 (aMCI) 的特征是情景记忆障碍，代表 AD 的前驱阶段。然而，SORL1 与 aMCI 之间的关系尚不清楚。本研究旨在探讨 SORL1 遗传变异与汉族人群 aMCI 的关系。我们使用 SORL1 5'区域的单核苷酸多态性 (SNP) rs668387 (SNP8) 和 3'区域的三个 SNP [rs2070045 (SNP19)、rs3824968 (SNP23)、rs2282649 (SNP24)] ，以及单体型分析，对 139 例 aMCI 患者和 213 例认知健康对照者进行了病例对照研究。我们发现 SNP19 在 aMCI 患者和对照组之间的等位基因频率有显著差异（p = 0.006）。此外，SNP19-23-24 处的 GAT 单体型与 aMCI 的发病风险增加相关（优势比 [OR] 1.377），而 SNP19-23-24 处的 TTC 单体型与 aMCI 的发病风险降低相关（OR 0.708）。这些结果表明，SORL1 3' 区域的 SNP 与汉族人群的 aMCI 相关。
