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

作者：Xue, Xiaofan; Zhang, Milan; Lin, Yicong; Xu, Erhe^*; Jia, Jianping

来源：Neuroscience Letters, 2014, 559: 94-98.

DOI：10.1016/j.neulet.2013.11.042

• Alzheimer's disease
• Sortilin-related receptor L1
• Single nucleotide polymorphism
• Chinese
• ApoE

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).

• 出版日期2014-1-24
• 单位首都医科大学