阿尔茨海默病中的同型半胱氨酸与亚甲基四氢叶酸还原酶多态性
Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease.
作者信息
Anello Guido, Guéant-Rodríguez Rosa-Maria, Bosco Paolo, Guéant Jean-Louis, Romano Antonino, Namour Bernard, Spada Rosario, Caraci Filippo, Pourié Gregory, Daval Jean-Luc, Ferri Raffaele
机构信息
IRCCS Associazione Oasi Maria S.S., Institute for Research on Mental Retardation and Brain Aging, 94018 Troina (EN), Italy.
出版信息
Neuroreport. 2004 Apr 9;15(5):859-61. doi: 10.1097/00001756-200404090-00025.
Homocysteine metabolism is influenced by genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR 677 C-->T and 1298 A-->C) and transcobalamin genes (TCN1 776 C-->G ). We evaluated the association of homocysteine with Alzheimer's disease (AD) and the influence of related polymorphisms and APOE, in 180 cases and 181 controls from southern Italy. Homocysteine (upper tercile) was associated with AD risk, with an odds ratio of 2.8 (95% confidence interval (CI) 1.54-5.22, p=0.0008), which was increased 2.2- and 2.0-fold by MTHFR 677T (odds ratio 6.28, 95% CI 2.88-16.20, p < 0.0001) and APOE epsilon4 (odds ratio: 5.60, 95% CI 1.12-28.05, p=0.0361), respectively. In conclusion, association of homocysteine with AD was aggravated by MTHFR 677T and APOE epsilon4 alleles.
同型半胱氨酸代谢受亚甲基四氢叶酸还原酶（MTHFR 677 C→T和1298 A→C）及转钴胺素基因（TCN1 776 C→G）的基因多态性影响。我们在来自意大利南部的180例患者和181例对照中评估了同型半胱氨酸与阿尔茨海默病（AD）的关联以及相关多态性和APOE的影响。同型半胱氨酸（上三分位数）与AD风险相关，比值比为2.8（95%置信区间（CI）1.54 - 5.22，p = 0.0008），MTHFR 677T（比值比6.28，95% CI 2.88 - 16.20，p < 0.0001）和APOE ε4（比值比：5.60，95% CI 1.12 - 28.05，p = 0.0361）分别使其增加2.2倍和2.0倍。总之，MTHFR 677T和APOE ε4等位基因加重了同型半胱氨酸与AD的关联。
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