SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer%26apos;s disease

作者：Guo Liang Hao; Westerteicher Christine; Wang Xin Hui; Kratzer Martina; Tsolakidou Amalia; Jiang Meizi; Grimmer Timo; Laws Simon M; Alexopoulos Panagiotis; Bujo Hideaki; Kurz Alexander; Perneczky Robert^*

来源：European Archives of Psychiatry and Clinical Neuroscience, 2012, 262(6): 529-534.

DOI：10.1007/s00406-012-0295-x

• Amyloid cascade
• Biomarker
• Mild cognitive impairment
• Dementia
• Genetic risk

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%26apos;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.

• 出版日期2012-9