Home > Journals > Minerva Medica > Past Issues > Articles online first > Minerva Medica 2020 Jul 22



To subscribe
Submit an article
Recommend to your librarian


Publication history
Cite this article as



Minerva Medica 2020 Jul 22

DOI: 10.23736/S0026-4806.20.06801-9


language: English

Methylenetetrahydrofolate reductase (MTHFR) C667T polymorphism and susceptibility to late-onset Alzheimer's disease in the Italian population. A systematic review and meta-analysis

Marco ZUIN 1, 2, Carlo CERVELLATI 2 , Alessandro TRENTINI 2, Loris RONCON 2, Patrizia GUASTI 1, Giovanni ZULIANI 1

1 Department of Morphology, Surgery & Experimental Medicine, University of Ferrara, Ferrara, Italy; 2 Department of Cardiology, Santa Maria delle Misericordia Hospital, Rovigo, Italy


BACKGROUND: This study is a meta-analysis of the published studies on the relationship between methylenetetrahydrofolate reductase (MTHFR) C667T polymorphism and the risk of lateonset Alzheimer’s disease (LOAD) in Italian cohorts.
METHODS: We conducted a search on the electronic databases PubMed/Medline, Web of Science and Scopus. All cohort and case-control studies investigating the association between MTHFR 677T polymorphism and LOAD in Italian population published any time to May 8, 2020 were included in the analysis.
RESULTS: From an initial screening of 136 articles, 4 were included into the systemic review. The pooled analysis based on the co-dominant model revealed that the MTHFR C677T polymorphism was associated with a significant risk of LOAD among Italian cohorts (TC vs. CC: OR=1.20, 95% CI=1.06-1.36, p=0.004, I2=0%). Conversely, the pooled analysis based on the allelic model demonstrated a non-significant relationship between the MTHFR C677T polymorphism and susceptibility to LOAD in Italians (OR: 1.25, 95% CI: 0.99-1.59, p=0.060, I2=14.6%). Moreover, Italian subjects with MTHFR 677TT genotype resulted to have a significantly increased susceptibility to LOAD (OR: 1.75, 95% CI:1.23-2.50, p=0.002, I2=0%).
CONCLUSIONS: The present meta-analysis showed only trend of association between MTHFR C677T polymorphism and LOAD in Italian population; however, it also demonstrated an increased susceptibility of LOAD in patients having MTHFR 677TT genotype. Further studies are needed to establish whether MTHFR polymorphisms can be used as non-invasive biomarker for LOAD.

KEY WORDS: Alzheimer’s disease; MTHFR; Meta-analysis; Polymorphisms

top of page