Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives

ABSTRACT

Introduction

Infertility is a major health problem, worldwide, which affects 10–15% of couples. About half a percent of infertility cases are related to male-related factors. Male infertility is a complex disease that is the result of various insults as lifestyle issues, genetics, and epigenetic factors. Idiopathic infertility is responsible for 30% of total cases. The genetic factors responsible for male infertility include chromosomal abnormalities, deletions of chromosome Y, and mutations and genetic variations of key genes.

Areas covered

In this review article, we aim to narrate performed studies on polymorphisms of essential genes involved in male infertility including folate metabolizing genes, oxidative stress-related genes, inflammation, and cellular pathways related to spermatogenesis. Moreover, possible pathophysiologic mechanisms responsible for genetic polymorphisms are discussed.

Expert opinion

Analysis and assessment of these genetic variations could help in screening, diagnosis, and treatment of idiopathic male infertility.

KEYWORDS:

• Male infertility
• genetic polymorphism
• risk factor
• molecular diagnosis
• molecular biomarker

Article highlights

• Male infertility is a complex disease in which the role of genetic factors is prominent.

• Single-nucleotide polymorphisms could affect the susceptibility of male infertility.

• Genetic variations have a great influence on male infertility when they affect the processes related to spermatogenesis.

• Polymorphism in genes involved in folate metabolizing genes, oxidative stress-related genes, and inflammation may also change the risk of male infertility.

• Genetic polymorphisms could be applicable in screening, diagnosis, and treatment of male infertility.

Acknowledgments

The authors are grateful to all persons who gave scientific consulting for this paper.

Disclosure statement

The author(s) have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This paper was not funded.