title: SORL1 genetic variants and cerebrospinal fluid  biomarkers of Alzheimer’s disease.
abstract: 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.
authors.forename: Liang-Hao
authors.initials: LH
authors.lastname: Guo
authors.forename: Christine
authors.initials: C
authors.lastname: Westerteicher
authors.forename: Xin-Hui
authors.initials: XH
authors.lastname: Wang
authors.forename: Martina
authors.initials: M
authors.lastname: Kratzer
authors.forename: Amalia
authors.initials: A
authors.lastname: Tsolakidou
authors.forename: Meizi
authors.initials: M
authors.lastname: Jiang
authors.forename: Timo
authors.initials: T
authors.lastname: Grimmer
authors.forename: Simon M
authors.initials: SM
authors.lastname: Laws
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Alexopoulos
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.forename: Alexander
authors.initials: A
authors.lastname: Kurz
authors.forename: Robert
authors.initials: R
authors.lastname: Perneczky
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D015415:Biomarkers / Q000134:cerebrospinal fluid*; D016022:Case-Control Studies; D060825:Cognitive Dysfunction / Q000134:cerebrospinal fluid / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000134:cerebrospinal fluid / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000134:cerebrospinal fluid / Q000235:genetics*; D008875:Middle Aged; D010446:Peptide Fragments / Q000134:cerebrospinal fluid; D020641:Polymorphism, Single Nucleotide; D016875:tau Proteins / Q000134:cerebrospinal fluid
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; D010446:Peptide Fragments; C102582:SORL1 protein, human; C075222:amyloid beta-protein (1-42); D016875:tau Proteins