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Role of treatment-modifying MTHFR677C>T and 1298A>C polymorphisms in metformin-treated Puerto Rican patients with

Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz

    Drug Metabolism and Personalized Therapy
    |February 24, 2017
    PubMed
    Abstract

    Insights

    The MTHFR 1298A>C gene variant is linked to diabetic peripheral neuropathy (DPN) risk in Puerto Rican type-2 diabetes mellitus (T2DM) patients. This study reports MTHFR variant prevalence in this population for the first time.

    Area of Science:

    • Genetics
    • Metabolic Disorders
    • Neurology

    Background:

    • Type-2 diabetes mellitus (T2DM) is a global health concern.
    • Diabetic peripheral neuropathy (DPN) is a common complication of T2DM.
    • MTHFR gene polymorphisms are implicated in various health conditions.

    Purpose of the Study:

    • To investigate the association between MTHFR genotypes and DPN in Puerto Rican T2DM patients on metformin.
    • To determine the prevalence of common MTHFR polymorphisms in this specific cohort.
    • To explore MTHFR variants as potential risk factors for DPN.

    Main Methods:

    • Genotyping of MTHFR 677C>T and 1298A>C polymorphisms using PCR-RFLP in 89 T2DM patients with DPN.
    • Comparison of genotype and allele frequencies with reference populations and controls.
    • Statistical analysis using Chi-square tests and odds ratios to assess DPN susceptibility and biochemical markers.

    Main Results:

    • 67% of participants carried at least one MTHFR polymorphism.
    • Statistically significant differences in genotype and allele frequencies were observed between patients and controls (p<0.0001, p=0.03).
    • The MTHFR 1298A>C variant, but not 677C>T, was associated with DPN susceptibility (p=0.018). No association was found with biochemical markers.

    Conclusions:

    • The prevalence of major MTHFR variants in Puerto Rican T2DM patients is reported for the first time.
    • The MTHFR 1298A>C polymorphism is suggested as an independent risk factor for DPN in this population.
    • Further research is warranted to elucidate the role of MTHFR variants in T2DM complications.

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