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Relationship of MTHFR gene polymorphisms with renal and cardiac disease 被引量:10
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作者 Francesca M Trovato Daniela Catalano +5 位作者 Angela Ragusa G Fabio Martines Clara Pirri Maria Antonietta Buccheri Concetta Di Nora Guglielmo M Trovato 《World Journal of Nephrology》 2015年第1期127-137,共11页
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 co... 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, C677 T and A1298 C, 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 C677 T is present independently of the negative effects of left ventricular hypertrophy, increased IntraRenal 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. 展开更多
关键词 HOMOCYSTEINE Glomerular filtration rate Renal function Mediterranean diet Genetic Methyle-netetrahydrofolate reductase polymorphism INSULINRESISTANCE Obesity Left ventricular hypertrophy Echo-cardiography
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