Case Control Study
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World J Nephrol. Feb 6, 2015; 4(1): 127-137
Published online Feb 6, 2015. doi: 10.5527/wjn.v4.i1.127
Relationship of MTHFR gene polymorphisms with renal and cardiac disease
Francesca M Trovato, Daniela Catalano, Angela Ragusa, G Fabio Martines, Clara Pirri, Maria Antonietta Buccheri, Concetta Di Nora, Guglielmo M Trovato
Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy
Angela Ragusa, Maria Antonietta Buccheri, AOU Prenatal Diagnosis and Medical Genetics, University of Catania, 95100 Catania, Italy
G Fabio Martines, Internal and Emergency Medicine Department, University of Catania, 95100 Catania, Italy
Author contributions: All the authors solely contributed to this paper.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Guglielmo M Trovato, MD, Department of Internal Medicine, University of Catania, P.A. Via Sant’Orsola 30, 95100 Catania, Italy. trovato.eu@gmail.com
Telephone: +39-95-3781533 Fax: +39-95-3781549
Received: April 21, 2014
Peer-review started: April 21, 2014
First decision: June 27, 2014
Revised: November 7, 2014
Accepted: November 17, 2014
Article in press: November 19, 2014
Published online: February 6, 2015
Processing time: 292 Days and 8.4 Hours
Core Tip

Core tip: We investigated the effects of different methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism and hyperhomocysteinemia for the development of renal failure and cardiovascular events, which are controversial, and challenged the relationship, if any, of MTHFR 677C>T and MTHFR 1298A>C polymorphisms with renal and heart function. MTHFR gene polymorphisms could have a protective role on renal function as suggested by their lower frequency among our dialysis patients in end-stage renal failure; differently, the association with left ventricular hypertrophy and reduced left ventricular relaxation suggest some type of indirect, or concurrent mechanism.