title: CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.
abstract: We conducted a case-control study to determine the prevalence of the CALHM1 P86L polymorphism (rs2986017) in patients with Alzheimer's disease (AD) in the Chinese population of mainland China, and also to clarify whether this polymorphism is a risk factor for AD. Fourteen heterozygous P86L carriers were identified among 198 AD patients. One control subject was also found to be a P86L heterozygous carrier. The allelic frequencies of the AD patients and control subjects were found to be significantly different. Our study indicates that the CALHM1-P86L polymorphism is associated with AD in the ethnic Chinese Han.
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Pei-Jing
authors.initials: PJ
authors.lastname: Cui
authors.forename: Lan
authors.initials: L
authors.lastname: Zheng
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Yu-Lei
authors.initials: YL
authors.lastname: Deng
authors.forename: Gang
authors.initials: G
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Hui-Dong
authors.initials: HD
authors.lastname: Tang
authors.forename: Jian-Fang
authors.initials: JF
authors.lastname: Ma
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Jian-Qing
authors.initials: JQ
authors.lastname: Ding
authors.forename: Qi
authors.initials: Q
authors.lastname: Cheng
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D044466:Asian People / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011392:Proline / Q000235:genetics; D012307:Risk Factors
chemical_list: C530077:CALHM1 protein, human; D015220:Calcium Channels; D008562:Membrane Glycoproteins; D011392:Proline; D007930:Leucine