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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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Genetic polymorphisms and folate status.

Mami Hiraoka1, Yasuo Kagawa2

  • 1College of Nursing and Nutrition, School of Nutrition, Shukutoku University, Chiba City, Chiba, Japan.

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|June 10, 2017
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Summary
This summary is machine-generated.

Low folate status, linked to high homocysteine, is a risk factor for major diseases. Folic acid supplementation can correct MTHFR C677T gene variant effects on folate and homocysteine levels.

Keywords:
folatemethylenetetrahydrofolate reductasepersonalized nutritionpolymorphism

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Area of Science:

  • Biochemistry
  • Genetics
  • Nutritional Science

Background:

  • Moderate hyperhomocysteinemia and low folate status are independent risk factors for cardiovascular disease, dementia, and depression.
  • Folate is crucial for one-carbon metabolism, impacting amino acid metabolism, nucleotide synthesis, and DNA methylation.
  • Key vitamins (folate, B12, B6, B2) act as cofactors in folate and homocysteine metabolism.

Purpose of the Study:

  • To review the impact of MTHFR C677T gene polymorphisms on serum homocysteine and folate levels.
  • To evaluate the efficacy of folic acid intervention in addressing these effects.
  • To explore strategies for overcoming folic acid deficiency and associated health issues.

Main Methods:

  • Review of existing literature on MTHFR C677T polymorphisms.
  • Analysis of studies investigating serum folate and total homocysteine (tHcy) levels.
  • Examination of the effects of folic acid supplementation on individuals with MTHFR variants.

Main Results:

  • MTHFR C677T polymorphisms, particularly the TT genotype, are associated with elevated tHcy and reduced serum folate levels.
  • The prevalence of the MTHFR 677TT genotype varies significantly across different ethnic groups.
  • Folic acid administration has been shown to normalize serum folate and tHcy levels, mitigating genotype-specific differences.

Conclusions:

  • MTHFR C677T genotype influences folate and homocysteine metabolism.
  • Folic acid intervention is effective in correcting biochemical abnormalities associated with MTHFR polymorphisms.
  • Genotype-guided nutritional interventions may enhance lifestyle changes and improve nutritional status for preventing related diseases.