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.