title: The genetic variation of SORCS1 is associated with late-onset Alzheimer's disease in Chinese Han population.
abstract: The variations of SORCS1 gene may play potential key roles in late-onset Alzheimer's disease (LOAD). To evaluate the relationship between the polymorphism of SORCS1 gene and LOAD in the ethnic Han Chinese, we conducted a case-control study to investigate the association between the single-nucleotide polymorphisms (SNPs) in intron 1 of SORCS1 and LOAD in Chinese Han population. Six reported SNPs in intron 1 of SORCS1 were analyzed by Snapshot, genotyping and haplotyping in 236 Chinese LOAD cases and 233 matched controls. The significant differences in frequencies of two SNPs (rs10884402, rs950809) were found between the two groups. In addition, haplotype analyses revealed that, in the LOAD group, the frequency of haplotypes C-C-G-T-C (alleles in order of rs17277986, rs6584777, rs10884402, rs7078098, rs950809 polymorphisms) were significantly higher (Psim<0.0001) while haplotype C-C-A-T-C, C-C-A-C-C, T-T-A-C-C were significantly lower (Psim<0.0001). Our data suggested that the genetic variation of the rs10884402 and rs950809 in intron 1 of SORCS1 was associated with the late-onset AD in the Chinese Han population.
authors.affiliation: Department of Neurology and Institute of Neurology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Jun
authors.initials: J
authors.lastname: Xu
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Huidong
authors.initials: H
authors.lastname: Tang
authors.forename: Yulei
authors.initials: Y
authors.lastname: Deng
authors.forename: Rujing
authors.initials: R
authors.lastname: Ren
authors.forename: Gang
authors.initials: G
authors.lastname: Wang
authors.forename: Wenquan
authors.initials: W
authors.lastname: Niu
authors.forename: Jianfang
authors.initials: J
authors.lastname: Ma
authors.forename: Yiwen
authors.initials: Y
authors.lastname: Wu
authors.forename: Jialin
authors.initials: J
authors.lastname: Zheng
authors.forename: Shengdi
authors.initials: S
authors.lastname: Chen
authors.forename: Jianqing
authors.initials: J
authors.lastname: Ding
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D011956:Receptors, Cell Surface; C472780:SORCS1 protein, human