Journal
JOURNAL OF MOLECULAR NEUROSCIENCE
Volume 46, Issue 3, Pages 505-508Publisher
HUMANA PRESS INC
DOI: 10.1007/s12031-011-9630-3
Keywords
Phosphatidylethanolamine N-methyltransferase; Alzheimer's disease; Homocysteine; Polymorphism; Association study; Chinese
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Funding
- National Basic Research Program of China [2007CB946902]
- National Nature Science Foundation of China [30721063]
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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 epsilon 4 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 epsilon 4 status or gender, the significant difference was only observed in the APOE epsilon 4 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 epsilon 4-independent risk factor for AD among Han Chinese women.
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