title: Association between the SORL1 rs2070045 polymorphism and late-onset Alzheimer's disease: interaction with the ApoE genotype in the Chinese Han population.
abstract: Late-onset Alzheimer's Disease (LOAD) is a common neurodegenerative disease [1], and the two well identified pathological hallmarks of LOAD are senile plaques formed from amyloid β peptides (Aβ) and neurofibrillary tangles (NFTs) consisting of hyperphorylated tau protein [2]. The neuronal Sortilin-related receptor (SORL1) is involved in the processing and trafficking of amyloid precursor protein (APP) into recycling pathways, thus influencing Aβ generation and by this AD pathology [3]. To explore the relationship between the single nucleotide polymorphism (SNP) of the SORL1 SNP 19 rs2070045 and LOAD, a case-control study was conducted in a Chinese Han cohort including 77 LOAD patients and 100 control participants. This SNP 19 rs2070045 was genotyped with a polymerase chain reaction-restriction fragment length polymorphism, (PCR-RFLP) method. The association was revealed between the polymorphism of SNP 19 rs2070045 (T/T, T/G, G/G) and the risk of LOAD. The results of this study indicated that the T allele (T/G+T/T) of SNP 19 rs2070045 was successful in exerting obvious influence in LOAD patients (χ(2)=4.884, P=0.027<0.05). However, there is no sufficient evidence to prove that the T allele of SNP 19 rs2070045 is associated with ɛ4 allele of ApoE gene in LOAD patients (χ(2)=0.771, P=0.380>0.05).
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China.
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Xue
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China.
authors.forename: Milan
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China.
authors.forename: Yicong
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China. Electronic address: xuerhe@126.com.
authors.forename: Erhe
authors.initials: E
authors.lastname: Xu
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China.
authors.forename: Jianping
authors.initials: J
authors.lastname: Jia
mesh_terms: D000367:Age Factors; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D005838:Genotype; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods
chemical_list: D001057:Apolipoproteins E; D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human
keywords: Alzheimer's disease; ApoE; Chinese; Single nucleotide polymorphism; Sortilin-related receptor L1