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Sabine Neugebauer, Tsuneharu Baba, Kiyoshi Kurokawa, Tsuyoshi Watanabe
Diabetic retinopathy is a major vascular complication leading frequently to blindness. Previous studies suggest that methylenetetrahydrofolate reductase (MTHFR) deficiency contributes to atherogenesis by raising plasma homocysteine. MTHFR is an enzyme in the transmethylation pathway by which homocysteine is converted to methionine.1 A point mutation in the MTHFR gene, which alters alanine to valine, results in a thermolabile phenotype with impaired activity, leading to increases in the homocysteine level in blood and urine. Moderate homocysteinaemia has been shown to be a risk factor for premature arteriosclerosis of peripheral,' cerebral,4 and coronary2 arteries. Whether individuals with diabetes carrying this mutation are also at higher risk for vasculation complications, such as diabetic retinopathy, has not yet been studied. We investigated the association of the MTHFR gene polymorphism with diabetic retinopathy in Japanese individuals with non-insulin-dependent...