Methylation Status of MTHFR Promoter and Oligozoospermia Risk: An Epigenetic Study and in Silico Analysis

(Pages: 482-490)
Atefeh Rezaeian, M.Sc, 1,2Mohammad Karimian, Ph.D, 2,*Abasalt Hossienzadeh Colagar, Ph.D, 2,*
Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran
Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Iran
Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran
Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Iran
*Corresponding Addresses: P.O. Box: 4741695447 Department of Molecular and Cell Biology Faculty of Basic Sciences University of Mazandaran BabolsarIran Emails:mdkarimian@gmail.com,ahcolagar@umz.ac.ir
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Rezaeian Atefeh, Karimian Mohammad, Colagar Abasalt Hossienzadeh. Methylation Status of MTHFR Promoter and Oligozoospermia Risk: An Epigenetic Study and in Silico Analysis. Cell J. 2021; 22(4): 482-490.

Abstract

Objective

In this study, we evaluated the effects of promoter methylation of MTHFR on oligozoospermia risk, followed by an in silico analysis.

Materials and Methods

In a case-control study, semen samples were collected from infertile and healthy control men. MTHFR promoter region was amplified by methylation-specific polymerase chain reaction (PCR). Finally, the promoter region of MTHFR was analyzed by bioinformatics software.

Results

Our data revealed significant associations of CpG island promoter methylation with oligozoospermia in a case-control study. In silico analysis showed that promoter contains a strong nucleosome exclusion region, a bonafide CGIs, six PROSITE motifs without a defined TATA box and 14 transcription factor (TF) binding sites, which are directly involved in spermatogenesis

Conclusion

Based on our findings, methylation of the MTHFR gene promoter region may be a risk factor for oligozoospermia. However, this is a preliminary report representing data for future comprehensive studies to make a clinical conclusion on the potential biomarker role of methylation of this promoter in elevating susceptibility to oligozoospermia.