title: An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
abstract: Excess cholesterol is removed from the brain via hydroxylation mediated by cholesterol 24S-hydroxylase (CYP46), which is a mechanism of maintaining cholesterol homeostasis in the brain. The CYP46A1 gene has been suggested as a genetic risk factor for sporadic late-onset Alzheimer's disease (AD). In this report, we analyzed an intronic CYP46A1 single nucleotide polymorphism (SNP) in 508 sporadic AD patients and 549 controls in a Chinese Han population. Our results indicated that the distribution of CYP46A1 SNP rs754203 genotypes was significantly different in AD patients compared to controls (χ(2) = 6.59, P = 0.037). The frequency of at least one of CYP46A1 T allele (C/T or T/T) was higher in AD patients compared to controls (χ(2) = 6.58, P = 0.01). The age- and sex-adjusted odds ratio for the risk of AD in carriers of CYP46A1 T allele (C/T + T/T) was 1.69 (95 % confidence interval, 1.12-2.56). We conclude that this intronic polymorphism in CYP46A1 gene is associated with AD in a Chinese Han population, and the CYP46A1 T allele might be a risk factor for AD.
authors.affiliation: Department of Neurology, Peking Union Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan Hutong, Dongcheng District, Beijing, 100730, People's Republic of China.
authors.forename: Xiao-ming
authors.initials: XM
authors.lastname: He
authors.forename: Zhen-xin
authors.initials: ZX
authors.lastname: Zhang
authors.forename: Jun-Wu
authors.initials: JW
authors.lastname: Zhang
authors.forename: Yong-tao
authors.initials: YT
authors.lastname: Zhou
authors.forename: Cheng-bin
authors.initials: CB
authors.lastname: Wu
authors.forename: Mou-ni
authors.initials: MN
authors.lastname: Tang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hong
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D000072556:Cholesterol 24-Hydroxylase; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D013250:Steroid Hydroxylases / Q000235:genetics*
chemical_list: D013250:Steroid Hydroxylases; D000072556:Cholesterol 24-Hydroxylase