SORL1 gene polymorphism association with late-onset Alzheimer’s disease

• Published in: Neuroscience letters 2015-01, Vol.584, p.382-389
• Main Authors: Feng, Xialu, Hou, Deren, Deng, Yanyao, Li, Wei, Tian, Mi, Yu, Zhuling
• Format: Article
• Language: English
• Subjects: Aged; Aged, 80 and over; Alzheimer Disease - genetics; Alzheimer’s disease; Asian Continental Ancestry Group; Case-Control Studies; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; LDL-Receptor Related Proteins - genetics; Male; Membrane Transport Proteins - genetics; Polymorphism; Polymorphism, Single Nucleotide; SORL1 gene
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2014.10.055

•SORL1 gene, as a candidate gene in lipid metabolic pathways is involved in AD onset.•We examined on the relationship between SORL1 gene and Alzheimer’s disease onset.•SORL1 gene SNPs at rs689021 and rs3824966 loci show no relationship with LOAD.•The rs1784933 locus is associated with LOAD, with the A allele being a risk factor. We examined the relationship between loci polymorphisms (rs689021, rs3824966, and rs1784933) of the sortilin-related receptor 1 gene (SORL1) and late-onset Alzheimer’s disease (LOAD) in the Chinese Han population of the Hunan Changsha region. A case-control association analysis was used. Clinical data and peripheral blood were collected from 201 Alzheimer’s disease patients and 257 healthy controls. PCR and MALDI-TOF mass spectrometry detection technologies were used to identify single nucleotide polymorphism (SNP) distribution at SORL1 gene loci. Genotype and allele frequency differences were analyzed and compared between groups. No significant differences were found in genotype frequency distributions of the rs689021 and rs3824966 loci. Similarly, allele frequency distributions of the C and T alleles of rs689021, and the C and G alleles of rs3824966 showed no significant differences. However, the genotype frequency distribution of the rs1784933 locus was significantly different, and the allele frequency distribution of the A and G alleles were also significantly different. Multifactor logistic regression analysis showed that after correcting for confounding factors such as gender, age, and cholesterol, LOAD risk in rs1784933 AA genotype carriers was 1.803 times that in AG+GG genotype carriers. SORL1 gene SNPs at rs689021 and rs3824966 loci show no relationship with LOAD onset in the Chinese Han population of the Hunan Changsha region. Conversely, a SORL1 gene SNP at the rs1784933 locus is associated with LOAD onset, with the A allele being a risk factor.