Abstract
We conducted a replication study of the 2 genetic variants, rs11754661 and rs2073067, in MTHFD1L that have been recently reported to be associated with late-onset Alzheimer's disease (LOAD) in a genome-wide study in Caucasians. The associations were evaluated in a case-control sample comprising 1,189 Northern Han-Chinese individuals. The rs11754661 polymorphism is associated with LOAD (OR = 1.727; p = 0.016). For rs2073067, LOAD association was found only in APOEε4 carriers (OR = 0.400; p < 0.001). Haplotype analysis revealed the "AC" haplotype increased the risk of developing LOAD (OR = 1.730; p = 0.015). Our findings support a role of MTHFD1L gene in LOAD.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Aged, 80 and over
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Alzheimer Disease / ethnology
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Alzheimer Disease / genetics*
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Aminohydrolases / genetics*
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Apolipoprotein E4 / genetics
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Asian People / ethnology
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Asian People / genetics*
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Female
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Formate-Tetrahydrofolate Ligase / genetics*
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Genetic Association Studies
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Genetic Predisposition to Disease / genetics*
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Humans
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Male
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Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics*
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Multienzyme Complexes / genetics*
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Polymorphism, Single Nucleotide / genetics*
Substances
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Apolipoprotein E4
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Multienzyme Complexes
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formyl-methenyl-methylenetetrahydrofolate synthetase
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Methylenetetrahydrofolate Dehydrogenase (NADP)
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Aminohydrolases
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Formate-Tetrahydrofolate Ligase