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

Expert Rev Mol Diagn. 2021 Sep 23. doi: 10.1080/14737159.2021.1985469. Online ahead of print.ABSTRACTINTRODUCTION: Infertility is a major health problem, worldwide, which affects 10-15% of couples. About half 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 aimed 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.PMID:34555965 | DOI:10.1080/14737159.2021.1985469
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Authors: Source Type: research