Relationship of<i>MTHFR</i>gene polymorphisms with renal and cardiac disease

Trovato, Francesca M.

doi:10.5527/wjn.v4.i1.127

Cited by 18 publications

(13 citation statements)

References 59 publications

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“…The DIVINe trial showed that treatment with FA (2.5 mg/day) and B vitamins (vitamin B 6 , 25 mg/day; cyanocobalamin, 1 mg/day) resulted in a greater decrease in GFR and an increase in vascular events in 238 patients with diabetic nephropathy [20]. A recent study on 630 Italian Caucasian population found a lower frequency of MTHFR 677C>T and A1298A>C polymorphisms among dialysis patients in end-stage kidney failure compared to subjects without or with slight-moderate renal impairment, suggesting a protective role of both polymorphisms on renal function [62]. …”

Section: Hhcy Fa and Renal Diseasementioning

confidence: 99%

Folic Acid and Homocysteine in Chronic Kidney Disease and Cardiovascular Disease Progression: Which Comes First

Cianciolo

Pascalis²,

Lullo

et al. 2017

Cardiorenal Med

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Background: Hyperhomocysteinemia (Hhcy) occurs in about 85% of chronic kidney disease (CKD) patients because of impaired renal metabolism and reduced renal excretion. Folic acid (FA), the synthetic form of vitamin B₉, is critical in the conversion of homocysteine (Hcy) to methionine. If there is not enough intake of FA, there is not enough conversion, and Hcy levels are raised. Summary: Hhcy is regarded as an independent predictor of cardiovascular morbidity and mortality in end-stage renal disease. Hhcy exerts its pathogenic action on the main processes involved in the progression of vascular damage. Research has shown Hhcy suggests enhanced risks for inflammation and endothelial injury which lead to cardiovascular disease (CVD), stroke, and CKD. FA has also been shown to improve endothelial function without lowering Hcy, suggesting an alternative explanation for the effect of FA on endothelial function. Recently, the role of FA and Hhcy in CVD and in CKD progression was renewed in some randomized trials. Key Messages: In the general population and in CKD patients, it remains a topic of discussion whether any beneficial effects of FA therapy are to be referred to its direct effect or to a reduction of Hhcy. While waiting for the results of confirmatory trials, it is reasonable to consider FA with or without methylcobalamin supplementation as appropriate adjunctive therapy in patients with CKD.

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Section: Hhcy Fa and Renal Diseasementioning

confidence: 99%

Folic Acid and Homocysteine in Chronic Kidney Disease and Cardiovascular Disease Progression: Which Comes First

Cianciolo

Pascalis²,

Lullo

et al. 2017

Cardiorenal Med

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“…[8] Protective effects reported in cancer, renal failure or NAFLD, may suggest heterozygosis advantage. [9]In the local population, we observed a relatively high variant frequency in both patients and healthy controls, with no significantly increased MetS risk associated. [10] Hyperhomocysteinemia is often considered part of the MetS.…”

Section: Discussionmentioning

confidence: 83%

MTHFR - Ala222Val Effects on Metabolic Syndrome Progression

Csép

Szigeti

Szalman

2018

Acta Medica Marisiensis

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Objective: Methylene-tetrahydrofolate reductase (MTHFR) is involved in adapting metabolism to environmental challenges by various mechanisms, including the control of gene expression by epigenetic and post-translational changes of transcription factors. Though a metabolic syndrome candidate gene, association studies of its common polymorphism rs1801133 (MTHFR-Ala222Val) remain inconclusive with important ethnic differences, and the effect on disease progression was not addressed. Methods: 307 middle-aged metabolic syndrome patients in a central Romanian hospital setting were investigated metabolically, and genotyped by PCR-RFLP. Disease progression was assessed by the age of onset of metabolic components, as well as development of non-alcoholic fatty liver disease and atherosclerotic complications. Results: The minor allele frequency of rs1801133 was 30.13%. Metabolic parameters showed no statistically significant differences according to genotype, but variant carriers developed dysglycemia and dyslipidemia earlier (53.28±10.8 vs 59.44±9.31 years, p<0.05 and 58.57±11.31 vs 64.72±10.6 years, p<0.1).While the polymorphism did not influence hepatic complications, an inverse association was found for manifest atherosclerosis (OR=0.49, p=0.006, 95%CI:0.29-0.81), which may be folate-status dependent, and needs further investigations. Simultaneous analysis with transcription factor polymorphisms (rs1801282, rs8192678) showed that the more protective genotypes were present the later metabolic disturbances developed, and in the presence of the other two variants the apparent protective cardiovascular effect disappeared. Conclusions: The common functional polymorphism rs1801133 may influence metabolic syndrome progression, the age of onset of components and development of atherosclerotic complications. Besides simple additive effects, complex mitigating and aggravating variant interactions may exist, and the protective or predisposing outcome may depend on modifiable environmental factors.

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“…This study found that folic acid therapy significantly reduced stroke risk among participants with the CC or CT genotypes, but not among those with the TT genotype [34] and these results may extend to renal disease [35]. The association of MTHFR is complicated as SNPs, including rs13306561, rs1801133, and rs17367504, in the gene have been associated with increases in diastolic blood pressure, but these associations have not replicated across studies [36, 37].…”

Section: Genetic Polymorphism Dietary Choline and Metabolic Diseasementioning

confidence: 99%

Choline metabolites

Smallwood

Allayee

Bennett

2016

Current Opinion in Lipidology

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Purpose of review This review highlights recent advances in our understanding of the interactions between genetic polymorphisms in genes that metabolize choline and the dietary requirements of choline and how these interactions relate to human health and disease. Recent findings The importance of choline as an essential nutrient has been well established but our appreciation of the interaction between our underlying genetic architecture and dietary choline requirements is only beginning. It has been shown in both human and animal studies that choline deficiencies contribute to diseases such as non-alcoholic fatty liver disease and various neurodegenerative diseases. An adequate supply of dietary choline is important for optimum development, highlighted by the increased maternal requirements during fetal development and in breast-fed infants. We discuss recent studies investigating variants in PEMT and MTHFR1 that are associated with a variety of birth defects. In addition to genetic interactions, we discuss several recent studies that uncover changes in fetal global methylation patterns in response to maternal dietary choline intake that result in changes in gene expression in the offspring. In contrast to the developmental role of adequate choline, there is now an appreciation of the role choline has in cardiovascular disease through the gut microbiota-mediated metabolite trimethylamine N-oxide. This pathway highlights some of our understanding of how the microbiome affects nutrient processing and bioavailability. Finally, in order to better characterize the genetic architecture regulating choline requirements, we discuss recent results focused on identifying polymorphisms that regulate choline and its derivative products. Summary Here we discuss recent studies that have advanced our understanding of how specific alleles in key choline metabolism genes are related to dietary choline requirements and human disease.

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Relationship ofMTHFRgene polymorphisms with renal and cardiac disease

Cited by 18 publications

References 59 publications

Folic Acid and Homocysteine in Chronic Kidney Disease and Cardiovascular Disease Progression: Which Comes First

Folic Acid and Homocysteine in Chronic Kidney Disease and Cardiovascular Disease Progression: Which Comes First

MTHFR - Ala222Val Effects on Metabolic Syndrome Progression

Choline metabolites

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