• The effect of MTHFR C677T and MTHFR A1298C polymorphisms in female infertility
  • Ahmad Hassanvand,1 Mohammad Reza Mehrabi,2,* Reza Yari,3
    1. Department of Biology, Borujerd Branch, Islamic Azad University, Borujerd, Iran.
    2. Department of Laboratory Sciences, Borujard Branch, Islamic Azad University, Borujard, Iran.
    3. Department of Biology, Medicinal Plants, Health and Food Security Research Center, Borujerd Branch, Islamic Azad University, Borujerd, Iran.


  • Introduction: Sufficient folate is vital for follicular and embryonic development as cells proliferate rapidly during folliculogenesis and pregnancy. Methylene tetrahydrofolate reductase or MTHFR is an enzyme affecting folate metabolism, and its polymorphisms can cause disturbances in folate levels and failure to convert homocysteine into methionine due to reduced enzyme activity.Inefficient activity of the enzyme induces the accumulation of platelets and ultimately damage to the vascular endothelium. The aim of the present study is to investigate the effect of two common polymorphisms of this gene on infertility in a population of Iranian women.
  • Methods: After obtaining the required permits; Using Cochran's formula, 85 women aged 25 to 35 with a history of repeated abortions before the 20th week of pregnancy were selected in the study population compared to 85 women with healthy pregnancies. DNA sample was extracted and PCR was performed with mastermix containing specific primers for two polymorph regions. Data analysis with SPSS Ver. 25 at a significance level of P<0.05 was performed.
  • Results: In the A1298C variant, there was a significant difference between the SNP frequency of healthy and sick people (χ2=9.29 and P=0.002), but this difference was not seen in the C677T variant (χ2=0.258 and P=0.611). The frequency of patients with A1298C heterozygous genotype was higher than other genotypes, and included patients with a history of repeated miscarriages. This study states that the A1298C variant plays a more important role in the occurrence of recurrent miscarriages in the studied patient population.
  • Conclusion: No linkage disequilibrium between MTHFR A1298C and MTHFR C677T was observed in this population. Due to the inconsistency of the data of this research with many other studies (more impact of A1298C polymorphism than C677T), it is necessary to use a larger population and the levels of biochemical substances affected by these two polymorphisms such as cobalamin, folate, homocysteine, SAM, methyl Malonic acid etc, should also be evaluated.
  • Keywords: C677T Polymorphisms, A1298C Polymorphisms, Recurrent miscarriage, IAU science.