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Relationship of MTHFR gene polymorphisms with renal and cardiac disease.

Authors: Trovato, Francesca M  Catalano, Daniela  Ragusa, Angela  Martines, G Fabio  Pirri, Clara  Buccheri, Maria Antonietta  Di Nora, Concetta  Trovato, Guglielmo M 
Citation: Trovato FM, etal., World J Nephrol. 2015 Feb 6;4(1):127-37. doi: 10.5527/wjn.v4.i1.127.
Pubmed: (View Article at PubMed) PMID:25664255
DOI: Full-text: DOI:10.5527/wjn.v4.i1.127


AIM: 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.
CONCLUSION: 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.

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CRRD Object Information
CRRD ID: 14696732
Created: 2019-07-22
Species: All species
Last Modified: 2019-07-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.