MTHFR Gene Polymorphism as a Risk Factor for Diabetic Retinopathy in Type 2 Diabetic Patients Without Serum Creatinine Elevation

  1. Makiko Maeda, MS1,
  2. Isamu Yamamoto, MD1,
  3. Masakatsu Fukuda, MD, PHD2,
  4. Mari Nishida, BS1,
  5. Junko Fujitsu, MS1,
  6. Shinpei Nonen, MS1,
  7. Tsuyoshi Igarashi, MD, PHD3,
  8. Takashi Motomura, MD, PHD3,
  9. Makiko Inaba, MD3,
  10. Yasushi Fujio, MD, PHD1 and
  11. Junichi Azuma, MD1
  1. 1Department of Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University, Osaka, Japan
  2. 2Department of Opthalmology, NTT West Japan Osaka Hospital, Osaka, Japan
  3. 3Second Department of Internal Medicine, NTT West Japan Osaka Hospital, Osaka, Japan

    Diabetic retinopathy (DR), a serious microangiopathic complication of diabetes, is the leading cause of catastrophic loss of vision in Japan. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in remethylation of homocysteine to methionine. A point mutation (C677T) in the MTHFR gene leads to impaired activity and is the most common genetic determinant of moderate hyperhomocysteinemia in the general population (1). Neugebauer et al. (2) reported a significantly higher prevalence of the mutant allele in diabetic patients with retinopathy. However, in their study, patients with retinopathy showed severe renal failure with higher levels of serum creatinine compared with those without retinopathy. Considering …

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