Association of sortilin-related receptor 1 gene single nucleotide polymorphisms with the risk of sporadic Alzheimer's disease / 中华行为医学与脑科学杂志

ABSTRACT

Objective To explore the association between the sortilin-related receptor,L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) and sporadic Alzheimer's disease (SAD) in Han Chinese populations.Methods Five candicate SNPs,including rs985421,rs12364988,rs4598682,rs3781834,and rs3781836,within the SORL1 gene were genotyped by LDR-PCR methods,and the association of these SNPs with SAD risk were also analyzed in a case-control study with 179 SAD and 106 healthy controls.Results The results indicated that the A allele frequency of the SORL1 SNP rs985421 was significant difference between SAD and healthy controls (Trend testP =0.0044,P adj =0.022; AllelicP=0.0023,P adj =0.012).In subjects without APOE s4 allele,higher frequency of the A allele of rs985421 was observed in SAD patients compared with control subjects by the stratified analysis (OR=2.260,95％ CI =1.269-4.024,P=0.0048).In addition,logistic regression analysis further revealed that the A allele of SORL1 SNP rs985421 was significantly associated with SAD risk (OR=1.968,95％ CI =1.273-3.042,P=0.002).However,no positive signals in other four SNPs within the SORL1 gene were observed (all P＞ 0.05).Conclusions The A allele of SORL1 SNP rs985421 may be an APOE ε4-independent factor associated with SAD risk.