Relationship between methylenetetrahydrofolate reductase gene polymorphism and diabetic retinopathy

Objectives To study the relationships between methylenetetrahydrofolate reductase(MTHFR) gene polymorphism and diabetic retinopathy (DR) in Chinese Han race. Methods With polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP), MTHFR gene 677 T mutation (cytosine is replced by thymine in No.677 site) was detected in 85 health controls, 62 with DR and 117 without DR of type 2 diabetics comfrimed by ophthalmoscope. Results The frequency of MTHFR variant genotypes and alleles of DR in Chinese Han race.patients were signigicantly higher than those without retinopathy and healthy controls (P0.01). Conclusions The results suggested that MTHFR gene C677T mutation was probably one of the genetic risk factors of diabetic retinopathy in Chinese Han rase.