title: The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease.
abstract: 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.
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan. ywaku@grape.med.tottori-u.ac.jp
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Wakutani
authors.forename: Hisanori
authors.initials: H
authors.lastname: Kowa
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kusumi
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Nakaso
authors.forename: Kenji
authors.initials: K
authors.lastname: Isoe-Wada
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Yano
authors.forename: Katsuya
authors.initials: K
authors.lastname: Urakami
authors.forename: Takao
authors.initials: T
authors.lastname: Takeshima
authors.forename: Kenji
authors.initials: K
authors.lastname: Nakashima
mesh_terms: 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
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)