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Association between the SORL1 rs2070045 polymorphism and late-onset Alzheimer's disease: Interaction with the ApoE genotype in the Chinese Han population

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机构: [1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China
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关键词: Alzheimer's disease Sortilin-related receptor L1 Single nucleotide polymorphism Chinese ApoE

摘要:
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 [3 peptides (A13) 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 Ap 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, GIG) 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 (x2= 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 s4 allele of ApoE gene in LOAD patients (x2 = 0.771, P= 0.380 > 0.05). (C) 2013 Elsevier Ireland Ltd. All rights reserved.

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出版当年[2013]版:
大类 | 4 区 医学
小类 | 4 区 神经科学
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 神经科学
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出版当年[2012]版:
Q3 NEUROSCIENCES
最新[2023]版:
Q3 NEUROSCIENCES

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第一作者机构: [1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China
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通讯机构: [1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun street, Xicheng District, Beijing 100053, China
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