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中国人群中甲硫氨酸合成酶基因2756 A>G多态性与阿尔茨海默病的关联分析

Association analysis of methionine synthase gene 2756 A>G polymorphism and Alzheimer disease in a Chinese population.

作者信息

Zhao Hua-Lu, Li Xiao-Qing, Zhang Zhen-Xin, Bi Xiu-Hua, Wang Bin, Zhang Jun-Wu

机构信息

National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, PR China.

出版信息

Brain Res. 2008 Apr 14;1204:118-22. doi: 10.1016/j.brainres.2008.01.064. Epub 2008 Feb 5.

Abstract

Homocysteine has been identified to be associated with Alzheimer disease (AD) and methionine synthase (MS) is one of the enzymes involved in homocysteine metabolism. Confused data were reported on the association between the MS 2756 A>G polymorphism and AD. To determine if this polymorphism could affect the occurrence of AD, we investigated the association between the MS 2756 A>G polymorphism and AD risk in 353 sporadic AD patients and 346 controls in a Chinese Han population. No significant differences of allele and genotype distributions between the AD cases and the controls were observed in the total samples, neither when the samples were stratified by age/age at onset and gender. When the samples were stratified by APOE epsilon4 status, a trend of A allele and AA genotype over-representation in the AD patients in comparison with the controls was observed, but it was not statistically significant (for the alleles, A versus G OR=1.549, 95% CI 0.920-2.609, p=0.098; for the genotypes, AA versus AG+GG OR=1.485, 95% CI 0.861-2.560, p=0.153). Similar trend was observed in the APOE epsilon4 non-carrier samples of the >or=65 year subgroups and it was not statistically significant too (for the alleles, A versus G OR=1.682, 95% CI 0.901-3.140, p=0.099, for the genotypes, AA versus AG+GG OR=1.690, 95% CI 0.884-3.232, p=0.110). Our data did not reveal significant association between the MS 2756 A>G polymorphism and AD development. However, a weak effect of the A allele on developing AD could not be completely excluded.

摘要

同型半胱氨酸已被证实与阿尔茨海默病(AD)相关,而甲硫氨酸合成酶(MS)是参与同型半胱氨酸代谢的酶之一。关于MS 2756 A>G多态性与AD之间的关联,已有相互矛盾的数据报道。为了确定该多态性是否会影响AD的发生,我们在中国汉族人群的353例散发性AD患者和346例对照中,研究了MS 2756 A>G多态性与AD风险之间的关联。在总样本中,无论是按年龄/发病年龄和性别进行分层,AD病例组和对照组之间的等位基因和基因型分布均未观察到显著差异。当按APOE ε4状态进行分层时,与对照组相比,AD患者中A等位基因和AA基因型的出现频率有增加趋势,但差异无统计学意义(对于等位基因,A与G比较,OR = 1.549,95%CI 0.920 - 2.609,p = 0.098;对于基因型,AA与AG + GG比较,OR = 1.485,95%CI 0.861 - 2.560,p = 0.153)。在≥65岁亚组的APOE ε4非携带者样本中也观察到类似趋势,且差异同样无统计学意义(对于等位基因,A与G比较,OR = 1.682,95%CI 0.901 - 3.140,p = 0.099;对于基因型,AA与AG + GG比较,OR = 1.690,95%CI 0.884 - 3.232,p = 0.110)。我们的数据未显示MS 2756 A>G多态性与AD发生之间存在显著关联。然而,不能完全排除A等位基因对AD发病的微弱影响。

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