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

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Abstract

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.

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Authors and Affiliations

  1. Molecular Cell Biology Lab, Department of Biochemistry, King George’s Medical University, Lucknow, 226 003, Uttar Pradesh, India

    Hena Naqvi, Syed Rizwan Hussain, Mohammad Kaleem Ahmad & Abbas Ali Mahdi

  2. Department of Obstetrics & Gynaecology, King George’s Medical University, Lucknow, 226 003, Uttar Pradesh, India

    Hena Naqvi & Shyam Pyari Jaiswar

  3. Department of Urology, King George’s Medical University, Lucknow, 226 003, Uttar Pradesh, India

    Satya Narayain Shankhwar

  4. Department of Biochemistry, Era’s Lucknow Medical College and Hospital, Lucknow, 226 003, Uttar Pradesh, India

    Hena Naqvi & Farzana Mahdi

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  1. Hena Naqvi
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Correspondence to Abbas Ali Mahdi.

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Naqvi, H., Hussain, S.R., Ahmad, M.K. et al. Role of 677C→T polymorphism a single substitution in methylenetetrahydrofolate reductase (MTHFR) gene in North Indian infertile men. Mol Biol Rep 41, 573–579 (2014). https://doi.org/10.1007/s11033-013-2894-7

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