title: Relationship of MTHFR gene polymorphisms with renal and cardiac disease.
abstract: OBJECTIVE
  To investigate 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.
  
  
  METHODS
  We challenged the relationship, if any, of MTHFR 677C>T and MTHFR 1298A>C polymorphisms with renal and heart function. The present article is a reappraisal of these concepts, investigating within a larger population, and including a subgroup of dialysis patients, if the two most common MTHFR polymorphisms, C677T and A1298C, as homozygous, heterozygous or with a compound heterozygous state, show different association with chronic renal failure requiring hemodialysis. MTHFR polymorphism could be a favorable evolutionary factor, i.e., a protective factor for many ominous conditions, like cancer and renal failure. A similar finding was reported in fatty liver disease in which it is suggested that MTHFR polymorphisms could have maintained and maintain their persistence by an heterozygosis advantage mechanism. We studied a total of 630 Italian Caucasian subject aged 54.60 ± 16.35 years, addressing to the increased hazard of hemodialysis, if any, according to the studied MTHFR genetic polymorphisms.
  
  
  RESULTS
  A favorable association with normal renal function of MTHFR polymorphisms, and notably of MTHFR C677T is present independently of the negative effects of left ventricular hypertrophy, increased Intra-Renal arterial Resistance and hyperparathyroidism.
  
  
  CONCLUSIONS
  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.
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Francesca M
authors: FM
authors: Trovato
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Daniela
authors: D
authors: Catalano
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Angela
authors: A
authors: Ragusa
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: G Fabio
authors: GF
authors: Martines
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Clara
authors: C
authors: Pirri
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Maria Antonietta
authors: MA
authors: Buccheri
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Concetta
authors: C
authors: Di Nora
authors: Francesca M Trovato, Daniela Catalano, Clara Pirri, Concetta Di Nora, Guglielmo M Trovato, Department of Internal Medicine, University of Catania, 95100 Catania, Italy.
authors: Guglielmo M
authors: GM
authors: Trovato
keywords: Echocardiography; Genetic; Glomerular filtration rate; Homocysteine; Insulin resistance; Left ventricular hypertrophy; Mediterranean diet; Methylenetetrahydrofolate reductase polymorphism; Obesity; Renal function