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

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  • Jiang Minmin
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Huang Shengwen
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Yuan Jun
    Clinical Laboratory, Guiyang Second People’s Hospital
  • Ma Xingwei
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Wu Xiaoli
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Zhuo Zhaozhen
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Ren Lingyan
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital
  • Jin Qian
    Prenatal Diagnosis Center, Guizhou Provincial People’s Hospital

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

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<p>To investigate the association of MTHFR 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.</p>

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