title: An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer's disease in the Han Chinese population.
abstract: In previous studies, we reported that the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) are associated with the risk of sporadic Alzheimer's disease (SAD) in the Han Chinese population. To further explore the relationships between SORL1 genetic variants and SAD, we conducted a two-step study. Sequencing analysis in 50 case samples identified 14 SNPs within the promoter and untranslated region of the SORL1 gene. Subsequent genotyping analysis in 106 patients with SAD and 179 healthy controls detected a significant association between the "G" allele of SNP rs1133174 in the 3' untranslated region of the SORL1 gene and SAD risk (odds ratio =1.92, 95% confidence interval [95% CI] =1.28-2.90, adjusted P=0.028). In addition, "G" allele carriers of rs1133174 (GA + GG) have a 2.15-fold increased risk of SAD compared to noncarriers (AA) (adjusted P=0.042). However, no significant positive associations were observed in the other 13 SNPs within the SORL1 gene. These preliminary findings suggest that the SORL1 SNP rs1133174 may be a potential risk locus for SAD in the Han Chinese population.
authors.affiliation: Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China ; Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Liu
authors.affiliation: Qingdao Mental Health Center, Qingdao, Shandong Province, People's Republic of China.
authors.forename: Bailing
authors.initials: B
authors.lastname: Wang
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Zaohuo
authors.initials: Z
authors.lastname: Cheng
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Xingfu
authors.initials: X
authors.lastname: Zhao
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Jianzhong
authors.initials: J
authors.lastname: Zhu
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Degang
authors.initials: D
authors.lastname: Wang
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Aiguo
authors.initials: A
authors.lastname: Dong
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Pengpeng
authors.initials: P
authors.lastname: Li
authors.affiliation: Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, People's Republic of China.
authors.forename: Chunhui
authors.initials: C
authors.lastname: Jin
keywords: Alzheimer’s disease; Han Chinese; SORL1; association; polymorphism