Association of MTHFR C677T, MTHFR A1298C and MTRR A66G Polymorphisms with Birth Defects in Southern China

To investigate the association of /WHIR C677T, MTHFR A1298C and MTRR A66G polymorphisms with birth defects in southern Chinese population. Genotyping was performed by Fluorescence Quantitative Analyzer using the Sequencing Reaction Universal Kit. Association analysis method was used to explore the relationship between genetic polymorphisms in MTHFR, MTRR gene and birth defects. Our results showed that serum folic acid level of genotype TT in MTHFR C677T was significantly lower than other genotypes, while homocysteine level significantly higher compared with CC and CT (P < 0.05). In addition, genotype GG in MTRR A66G might also promote homocysteine accumulation (P < 0.05). Results of logistic regression represented that MTHFR C677T, MTHFR A1298C, and MTRR A66G polymorphisms were not important or independent risk factors for predicting birth defects. Besides, genotype distribution of MTHFR C677T was significantly different in normal and abnormal pregnancy population, and genotype TT might affect folic acid metabolism and promote homocysteine accumulation. However, MTHFR C677T, MTHFR A1298C, and MTRR A66G polymorphisms were not critical or independent risk factors for predicting birth defects in this study.

Automated summary

The study investigated the association between /WHR C677T, MTHFR A1298C, and MTRR A66G polymorphisms and birth defects in the southern Chinese population. Genotyping was conducted and association analysis revealed that these polymorphisms were not significant risk factors for predicting birth defects. Despite differences in genotype distribution and effects on folic acid and homocysteine levels, the polymorphisms did not play a critical role in predicting birth defects in this study.