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

Rezaeian, Atefeh; Karimian, Mohammad

doi:10.22074/cellj.2021.6498

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

Document Type : Original Article

Authors

Atefeh Rezaeian ¹
Mohammad Karimian ²

¹ 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,

² Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Iran

10.22074/cellj.2021.6498

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.

Keywords