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

被引：14

作者：

Karimian, Mohammad ^{[1
]}

Parvaresh, Leila ^{[2
]}

Behjati, Mohaddeseh ^{[3
]}

机构：

[1] Univ Mazandaran, Fac Basic Sci, Dept Mol & Cell Biol, Babolsar 4741695447, Iran

[2] Isfahan Univ Med Sci, Sch Med, Dept Anat, Esfahan, Iran

[3] Isfahan Univ Med Sci, Cellular Mol & Genet Res Ctr, Esfahan, Iran

来源：

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | 2021年 / 21卷 / 11期

关键词：

Male infertility; genetic polymorphism; risk factor; molecular diagnosis; molecular biomarker; SINGLE-NUCLEOTIDE POLYMORPHISM; S-TRANSFERASE POLYMORPHISMS; SYNTHASE ENOS GENE; MTHFR C677T POLYMORPHISM; STRAND BREAK REPAIR; RISK-FACTOR; MITOCHONDRIAL-DNA; NONOBSTRUCTIVE AZOOSPERMIA; CHROMOSOME SYNAPSIS; OXIDATIVE STRESS;

D O I：

10.1080/14737159.2021.1985469

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：1191 / 1210

页数：20

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