Molecular Biology Reports

, Volume 41, Issue 2, pp 573–579 | Cite as

Role of 677C→T polymorphism a single substitution in methylenetetrahydrofolate reductase (MTHFR) gene in North Indian infertile men

  • Hena Naqvi
  • Syed Rizwan Hussain
  • Mohammad Kaleem Ahmad
  • Farzana Mahdi
  • Shyam Pyari Jaiswar
  • Satya Narayain Shankhwar
  • Abbas Ali MahdiEmail author


Failure or severe difficulty in conceiving a child is surprisingly common, worldwide problem. Half of these cases are due to male factors with defects in sperm (1 in 15 men) being the single most common cause. Also about 60–75 % of male infertility cases are idiopathic, since the molecular mechanisms underlying the defects remain unknown. DNA methylation is crucial for spermatogenesis and high methylenetetrahydrofolate reductase (MTHFR) activity in adult testis than other organs in mouse, signifies its critical role in spermatogenesis. According to recent findings there is a correlation of epigenetic regulation of several imprinted genes with disturbed spermatogenesis and fertility. Consequently any change in the MTHFR gene sequence can modify the spermatogenesis including transmission of infertility to the carriers. The aim of the study is to analyze the distribution of the single nucleotide polymorphism C677T in the MTHFR gene in 637 North Indian infertile patients and 364 fertile North Indian men as controls by using PCR–RFLP technique and Chi Square test for statistical analysis. The average MTHFR 677CC, 677CT, 677TT genotype frequencies of total infertile men were 70.17, 24.17, 5.65 % in infertile men and 75.27, 21.7, 2.74 % in controls, respectively. The average frequency of the MTHFR 677T allele was 17.73 % in infertile men as compared to 13.59 % in controls. The statistical difference was significant. Disease risk was found 2.27-folds increased in patients who were carrying T allele. We found an association of C677T polymorphism with male infertility and that it may be a genetic risk factor for male infertility in North Indian population.


MTHFR Necrozoospermia Male infertility Polymorphism C677T 


Conflict of interests

The authors do not have any conflicts of interest in this article.


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Hena Naqvi
    • 1
    • 2
    • 4
  • Syed Rizwan Hussain
    • 1
  • Mohammad Kaleem Ahmad
    • 1
  • Farzana Mahdi
    • 4
  • Shyam Pyari Jaiswar
    • 2
  • Satya Narayain Shankhwar
    • 3
  • Abbas Ali Mahdi
    • 1
    Email author
  1. 1.Molecular Cell Biology Lab, Department of BiochemistryKing George’s Medical UniversityLucknowIndia
  2. 2.Department of Obstetrics & GynaecologyKing George’s Medical UniversityLucknowIndia
  3. 3.Department of UrologyKing George’s Medical UniversityLucknowIndia
  4. 4.Department of BiochemistryEra’s Lucknow Medical College and HospitalLucknowIndia

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