July - September 2014, Volume 10, Issue 3

Ren H, Tan S, Zhang Y, Lin Z, Peng D, Liu W, Huang T, Hu J

The C677T Methylenetetrahydrofolate Reductase Mutation and Alzheimer’s Disease: A meta-analysis of 33 Studies

Acta Endo (Buc) 2014, 10 (3): 443-456
doi: 10.4183/aeb.2014.443

Context. Data are conflicting concerning risk for Alzheimer’s disease (AD) and 5,10-methylenetetrahydrofolate reductase genetic variant (MTHFR C677T). Objective. The aim of the study was to investigate the associations of MTHFR C677T and risk of developing AD. Design and Methods. We searched the relevant articles by using Medline, web of science, and abstracts of conference proceedings. The meta-analysis and statistical analyses were performed using Stata. Results. In 33 included studies which provided 4518 cases and 5476 controls, the analysis for investigating the association between C677T allele T and the risk of developing AD relative to the allele C revealed no heterogeneity (p=0.088, I2=26.1%) between the 33 studies; the random effects (RE) pooled OR was significant: [RE OR=1.13(1.05-1.22)]. In subgroup analysis, we only observed the significant results in Asian populations. The pooled analysis for MTHFR 677 CT+TT vs. 677CC revealed a significant result [fixed effect (FE) OR=1.22(1.10-1.34)]. However, we did not observe significant associations in Europeans when comparing MTHFR 677 CT+TT with 677CC in subgroup analysis. The pooled analysis for MTHFR 677 TT vs. 677CC+CT did not reveal significant results: [FE OR=1.08(0.95-1.22)]. Conclusion. The risk allele T of MTHFR C677T is associated with high risk of AD in Asian populations, but not in Europeans.

Keywords: Alzheimer’s disease, MTHFR, meta-analysis, genetic variant

Correspondence: Jinxing Hu MD, “Johns Hopkins” University, Pulmonary Division, 5501 Hopkins Bayview JHAAC 4A8, 5501 Hopkins Bayview, Baltimore, Maryland, 21224, United States of America, E-mail: hujinxing2000@163.com