Department of Neurology, Ren Ji Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 145 Shandong Road Middle, Shanghai, China.
Neurosci Res. 2010 Oct;68(2):142-50. doi: 10.1016/j.neures.2010.06.011. Epub 2010 Jun 30.
No clear consensus has been reached at the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and Alzheimer's disease (AD) risk. Thus in this meta-analysis, a total of 19 case-control studies was assessed to evaluate the possible association. The data demonstrated that the frequency of T677 allele (T vs. C) was significantly associated with susceptibility to AD in all subjects (OR=1.15, 95% CI=1.06-1.26) and in East Asians (OR=1.22, 95% CI=1.08-1.39). There was statistical difference between AD patients and the controls under recessive genetic mode (CT+TT vs. CC) and homozygote comparison (TT vs. CC) in all subjects and in East Asians as well. Despite a small effect of the polymorphism on late-onset AD (LOAD) risk, MTHFR C677T polymorphism was not a major risk factor for LOAD in East Asians and Caucasians. A subgroup analysis in the subjects without APOE epsilon4 alleles showed T677 allele significantly increased risk of AD in all subjects (OR=1.21, 95% CI: 1.04-1.42) and in East Asians (OR=1.28, 95% CI: 1.06-1.55). However, no association was found in Caucasians. In conclusion, this meta-analysis supports that MTHFR C677T polymorphism is capable of causing AD susceptibility in East Asians, not in Caucasians.
亚甲基四氢叶酸还原酶（MTHFR）C677T 多态性与阿尔茨海默病（AD）风险之间尚未达成明确共识。因此，在这项荟萃分析中，共评估了 19 项病例对照研究，以评估可能的关联。数据表明，T677 等位基因（T 与 C）的频率在所有受试者（OR=1.15，95%CI=1.06-1.26）和东亚人群（OR=1.22，95%CI=1.08-1.39）中与 AD 的易感性显著相关。在所有受试者和东亚人群中，在隐性遗传模式（CT+TT 与 CC）和纯合子比较（TT 与 CC）下，AD 患者与对照组之间存在统计学差异。尽管该多态性对迟发性 AD（LOAD）风险的影响较小，但 MTHFR C677T 多态性不是东亚和高加索人群 LOAD 的主要危险因素。在无 APOE epsilon4 等位基因的受试者亚组分析中，T677 等位基因显著增加了所有受试者（OR=1.21，95%CI：1.04-1.42）和东亚人群（OR=1.28，95%CI：1.06-1.55）AD 的风险。然而，在高加索人群中未发现关联。总之，这项荟萃分析支持 MTHFR C677T 多态性可导致东亚人群发生 AD 易感性，而不能导致高加索人群发生 AD 易感性。
