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The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease.
Dement Geriatr Cogn Disord. 2004; 17(3):147-50.DG

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+Show Affiliations

Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan. ywaku@grape.med.tottori-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

14739536

Citation

Wakutani, Yosuke, et al. "The Regulatory Region Polymorphisms of the MTHFR Gene Are Not Associated With Alzheimer's Disease." Dementia and Geriatric Cognitive Disorders, vol. 17, no. 3, 2004, pp. 147-50.
Wakutani Y, Kowa H, Kusumi M, et al. The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease. Dement Geriatr Cogn Disord. 2004;17(3):147-50.
Wakutani, Y., Kowa, H., Kusumi, M., Nakaso, K., Isoe-Wada, K., Yano, H., Urakami, K., Takeshima, T., & Nakashima, K. (2004). The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease. Dementia and Geriatric Cognitive Disorders, 17(3), 147-50.
Wakutani Y, et al. The Regulatory Region Polymorphisms of the MTHFR Gene Are Not Associated With Alzheimer's Disease. Dement Geriatr Cogn Disord. 2004;17(3):147-50. PubMed PMID: 14739536.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease. AU - Wakutani,Yosuke, AU - Kowa,Hisanori, AU - Kusumi,Masayoshi, AU - Nakaso,Kazuhiro, AU - Isoe-Wada,Kenji, AU - Yano,Hidetaka, AU - Urakami,Katsuya, AU - Takeshima,Takao, AU - Nakashima,Kenji, Y1 - 2004/01/20/ PY - 2003/06/30/accepted PY - 2004/1/24/pubmed PY - 2004/5/5/medline PY - 2004/1/24/entrez SP - 147 EP - 50 JF - Dementia and geriatric cognitive disorders JO - Dement Geriatr Cogn Disord VL - 17 IS - 3 N2 - 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. SN - 1420-8008 UR - https://www.unboundmedicine.com/medline/citation/14739536/The_regulatory_region_polymorphisms_of_the_MTHFR_gene_are_not_associated_with_Alzheimer's_disease_ L2 - https://www.karger.com?DOI=10.1159/000076348 DB - PRIME DP - Unbound Medicine ER -