Journal
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 21, Issue 11, Pages 1191-1210Publisher
TAYLOR & FRANCIS AS
DOI: 10.1080/14737159.2021.1985469
Keywords
Male infertility; genetic polymorphism; risk factor; molecular diagnosis; molecular biomarker
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Infertility is a major global health issue affecting 10-15% of couples, with male-related factors accounting for around half a percent of cases. Genetic factors such as chromosomal abnormalities, deletions of chromosome Y, and mutations of key genes play a role in male infertility. Understanding and analyzing these genetic variations could aid in screening, diagnosing, and treating idiopathic male infertility.
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.
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