The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease.
Recent epidemiological studies have emphasized the impact of elevated blood homocysteine levels on the pathogenesis of Alzheimer's disease (AD). In spite of a significant impact of a MTHFR C677T polymorphism on the blood homocysteine levels, the association between the C677T polymorphism and AD remains controversial. Therefore, other unidentified genetic factor(s) that regulate blood homocysteine levels may exist. Here, we have analyzed the 5'-upstream region of the MTHFR gene and examined AD patients (n = 223) and nondemented individuals (n = 323) for polymorphisms in the 5'-upstream region of the MTHFR gene. We identified two polymorphisms (-713G/A and -393C/A, upstream of the start codon). We found no significant relationship between AD and the 5'-upstream region polymorphisms of the MTHFR gene. Thus, our study does not reinforce the hypothesis of an independent involvement of the MTHFR gene upstream region polymorphisms in AD risk.
Wakutani
Yosuke
Y
Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan. ywaku@grape.med.tottori-u.ac.jp
Kowa
Hisanori
H
Kusumi
Masayoshi
M
Nakaso
Kazuhiro
K
Isoe-Wada
Kenji
K
Yano
Hidetaka
H
Urakami
Katsuya
K
Takeshima
Takao
T
Nakashima
Kenji
K
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics / Q000502:physiology; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid
D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)