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; molecular biomarker; molecular diagnosis; risk factor.