The SORL1 polymorphism rs985421 may confer the risk for amnestic mild cognitive impairment and Alzheimer's disease in the Han Chinese population.
Although the pathogenetic mechanisms driving Alzheimer's disease (AD) are unclear, genetic variations may play an important role. Previous studies have identified that single nucleotide polymorphisms (SNPs) in the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene are associated with AD or amnestic mild cognitive impairment (aMCI) patients. However, the association of SORL1 variants with AD or aMCI susceptibility in the Han Chinese population has not been adequately reported. Thus, we conducted a case-control study in 106 sporadic AD patients, 67 aMCI patients, and 179 healthy control Han Chinese subjects to determine whether SORL1 genetic variations alter the risk for AD or aMCI. Using the LDR-PCR method to genotype five polymorphisms in SORL1, we found significant associations (for AD: OR=1.968, 95% CI=1.273-3.042; for aMCI: OR=2.210, 95% CI=1.353-3.610) between the 'A' allele of the SORL1 SNP rs985421 and AD and aMCI, which may represent an ApoE ɛ4-independent risk factor for SAD. These findings suggest that the SORL1 SNP rs985421 may alter the risk for sporadic AD and aMCI in the Han Chinese population.
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China. Electronic address: jch1029@126.com.
Chunhui
C
Jin
Nanjing Zutangshan Social Welfare Hospital, Nanjing, 211153, Jiangsu, China.
Lili
L
Zhang
Yangzhou Wutaishan Hospital, Yangzhou 225003, Jiangsu China.
Yiping
Y
Xian
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Xiaowei
X
Liu
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Yue
Y
Wu
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Feng
F
Zhang
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Jianzhong
J
Zhu
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Guofu
G
Zhang
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Caixia
C
Chen
Nanjing Zutangshan Social Welfare Hospital, Nanjing, 211153, Jiangsu, China.
Ronglan
R
Gong
Nanjing Zutangshan Social Welfare Hospital, Nanjing, 211153, Jiangsu, China.
Lingyun
L
Zhang
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Jianmin
J
Yuan
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Fuquan
F
Zhang
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Lin
L
Tian
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China.
Guoqiang
G
Wang
Wuxi Mental Health Center of Nanjing Medical University, Wuxi 214151, Jiangsu, China. Electronic address: chengzaohuo@126.com.
Zaohuo
Z
Cheng
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics* / Q000523:psychology; D000647:Amnesia / Q000208:ethnology / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D002681:China; D060825:Cognitive Dysfunction / Q000208:ethnology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human
Alzheimer's disease; Han Chinese; Mild cognitive impairment; Polymorphism; SORL1