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
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| Citation: |
Trovato FM, etal., World J Nephrol. 2015 Feb 6;4(1):127-37. doi: 10.5527/wjn.v4.i1.127. |
| RGD ID: |
14696732 |
| Pubmed: |
PMID:25664255 (View Abstract at PubMed) |
| PMCID: |
PMC4317623 (View Article at PubMed Central) |
| DOI: |
DOI:10.5527/wjn.v4.i1.127 (Journal Full-text) |
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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| Genes (Rattus norvegicus) |
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| Mthfr (methylenetetrahydrofolate reductase) |
| Genes (Mus musculus) |
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| Mthfr (methylenetetrahydrofolate reductase) |
| Genes (Homo sapiens) |
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| MTHFR (methylenetetrahydrofolate reductase) |
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