title: PICALM and CR1 variants are not associated with sporadic Alzheimer's disease in Chinese patients.
abstract: Alzheimer's disease (AD) is the most common form of senile dementia, and the overall prevalence increases exponentially with age. It is well known that genetic variants may play an important role in the pathogenesis of this disorder. Recently, two independent large-scale genome-wide association studies (GWAS) identified 3 novel single nucleotide polymorphisms (SNPs) (rs11136000 within CLU, rs3851179 within PICALM and rs6656401 within CR1) that are associated with late-onset AD (LOAD), and these results have been replicated by other studies performed in the Caucasian population. Recently, an independent study failed to verify the association for the SNP within CLU in a Han Chinese population, indicating that there may be genetic heterogeneity in this association. In the present study, we studied the SNPs within PICALM and CR1 in 474 sporadic AD patients (SAD) and 591 unrelated age- and sex-matched healthy controls of Han Chinese descent. Our data revealed that the frequencies of both of these SNPs were not significantly difference between the SAD and control groups. Thus, the association between SNPs within PICALM, CR1, and SAD should be studied further in different ethnic groups.
authors.affiliation: Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Hong-Lei
authors.initials: HL
authors.lastname: Li
authors.forename: Sheng-Sheng
authors.initials: SS
authors.lastname: Shi
authors.forename: Qi-Hao
authors.initials: QH
authors.lastname: Guo
authors.forename: Wang
authors.initials: W
authors.lastname: Ni
authors.forename: Yi
authors.initials: Y
authors.lastname: Dong
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Yi-Min
authors.initials: YM
authors.lastname: Sun
authors.lastname: Bei-Wang
authors.forename: Shen-Ji
authors.initials: SJ
authors.lastname: Lu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hong
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D034041:Monomeric Clathrin Assembly Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017463:Receptors, Complement 3b / Q000235:genetics*
chemical_list: C509991:CR1 protein, human; D034041:Monomeric Clathrin Assembly Proteins; C439003:PICALM protein, human; D017463:Receptors, Complement 3b