title: SORL1 gene polymorphism association with late-onset Alzheimer's disease.
abstract: 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.
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: tjxialu@163.com.
authors.forename: Xialu
authors.initials: X
authors.lastname: Feng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: hou0718@126.com.
authors.forename: Deren
authors.initials: D
authors.lastname: Hou
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: 530046717@qq.com.
authors.forename: Yanyao
authors.initials: Y
authors.lastname: Deng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: 750724354@qq.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: 506535410@qq.com.
authors.forename: Mi
authors.initials: M
authors.lastname: Tian
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha HN410013, China. Electronic address: 969653601@qq.com.
authors.forename: Zhuling
authors.initials: Z
authors.lastname: Yu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human
keywords: Alzheimer’s disease; Polymorphism; SORL1 gene