MTHFR (C677T, A1298C) and MTRR (A66G) polymorphisms associated with the risk of megaloblastic anemia in China

Abstract

Purpose MTHFR (C677T and A1298C) and MTRR (A66G) polymorphisms have been reported to be associated with the increased risk of cardiovascular diseases, pregnancy complications, and neural tube defects, except megaloblastic anemia (MA). Therefore, here, we investigated the correlation between MTHFR (C677T, A1298C) and MTRR (A66G) polymorphisms and the risk of MA. Methods MTHFR (C677T, A1298C) and MTRR (A66G) mutations in 41 newly diagnosed MA patients and 40 controls were detected by real-time PCR. Results We found that the homozygous mutant 677TT, rather than the heterozygous mutant 677CT, in MA patients is more frequent than that in controls. However, no significant differences were noted in MTHFR (A1298C) and MTRR (A66G) polymorphisms. In combined genotypes, the proportion of homozygous mutations in patients was significantly higher than that in wild and heterozygous mutation types. Furthermore, the clinical examination indices such as mean corpuscular volume, homocysteine, vitamin B12, hemoglobin and red blood cells levels were more abnormal in MA patients with 677TT, 66GG and 66AG genotypes than those in wild genotypes. Finally, a linear correlation between scores and clinical features of MA in scoring system was derived. High risk group exhibited higher prevalence rate of MA and showed more abnormal clinical examination indices than those showed by the low risk group. Conclusions The proportion of homozygous MTHFR (C677T, A1298G) and MTRR (A66G) mutations has positive correlation with the morbidity of MA in China. The polymorphism scoring system might be useful to assess the risk of MA effectively.