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An Intronic CYP46A1 Polymorphism Is Associated with Alzheimer Disease in a Chinese Han Population

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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 (χ2 = 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 (χ2 = 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.

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Authors and Affiliations

  1. 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

    Xiao-ming He, Zhen-xin Zhang & Yong-tao Zhou

  2. Department of Neurology, Xiangyang Central Hospital, Xiangfan University, Xiangyang, Hubei, 441021, People’s Republic of China

    Xiao-ming He

  3. National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences of Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People’s Republic of China

    Jun-wu Zhang

  4. Department of Neurology, First Affiliated Hospital, Xi’an Jiaotong University, Xi’an, Shanxi, 710061, People’s Republic of China

    Cheng-bin Wu

  5. Institute of Mental Health, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, People’s Republic of China

    Mou-ni Tang

  6. Institute of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, People’s Republic of China

    Zhen Hong

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  1. Xiao-ming He
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Correspondence to Zhen-xin Zhang.

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He, Xm., Zhang, Zx., Zhang, Jw. et al. An Intronic CYP46A1 Polymorphism Is Associated with Alzheimer Disease in a Chinese Han Population. J Mol Neurosci 47, 514–518 (2012). https://doi.org/10.1007/s12031-012-9778-5

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  • DOI: https://doi.org/10.1007/s12031-012-9778-5

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