Journal of Molecular Neuroscience

, Volume 46, Issue 3, pp 505–508

PEMT G523A (V175M) Is Associated with Sporadic Alzheimer's Disease in a Chinese Population

  • Xiu-Hua Bi
  • Hua-Lu Zhao
  • Zhen-Xin Zhang
  • Jun-Wu Zhang
Article

DOI: 10.1007/s12031-011-9630-3

Cite this article as:
Bi, XH., Zhao, HL., Zhang, ZX. et al. J Mol Neurosci (2012) 46: 505. doi:10.1007/s12031-011-9630-3

Abstract

There is evidence that increased concentrations of circulating homocysteine are associated with Alzheimer's disease (AD). Phosphatidylethanolamine N-methyltransferase (PEMT) is an important catalyst involved in the production of homocysteine. We investigated the association of a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic AD risk in a Han Chinese population that included 386 AD patients and 366 controls. PEMT G523A was genotyped by either sequencing or PCR-restriction fragment length polymorphism analysis. The plasma homocysteine concentrations of 210 subjects were determined by high-performance liquid chromatography. Significant higher frequency of the A allele was detected in AD cases than in controls (A vs. G, p = 0.007, OR = 1.482, 95% CI 1.114–1.972). After adjusting for gender, age/age at onset, and APOE ε4 status, logistic analysis showed rs7946 was associated with AD in a dominant model (AA + GA vs. GG, p = 0.007, OR = 1.596, 95% CI 1.138–2.240). When stratified by APOE ε4 status or gender, the significant difference was only observed in the APOE ε4 non-carriers and in the female subjects, respectively. We did not find a relationship of this polymorphism with plasma homocysteine levels. These results suggested that PEMT G523A is associated with AD and that the A allele is an APOE ε4-independent risk factor for AD among Han Chinese women.

Keywords

Phosphatidylethanolamine N-methyltransferase Alzheimer's disease Homocysteine Polymorphism Association study Chinese 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Xiu-Hua Bi
    • 1
  • Hua-Lu Zhao
    • 1
  • Zhen-Xin Zhang
    • 2
  • Jun-Wu Zhang
    • 1
  1. 1.National Laboratory of Medical Molecular Biology, Institute of Basic Medical SciencesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina
  2. 2.Department of Neurology, Peking Union HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

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