ReviewNature reviews. Urology2018
Genetics of male infertility.
Review in Nature reviews. Urology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 458 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
458 citing papers in PubMed, 6 syntheses or guidelines pooled it, 894 citations in OpenAlex.
- Iron overload disorders in adults: a comprehensive review of gonadal function, reproductive, and sexual health.Human reproduction update · 2026Pooled it
- The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Human genomics · 2026Pooled it
- Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome.Communications biology · 2025Pooled it
- Inflammation-mediated effects of diabetes mellitus on male fertility: a systematic review and meta-analysis.Frontiers in endocrinology · 2025Pooled it
- A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.Frontiers in endocrinology · 2025Pooled it
- A Comprehensive Systematic Review of the Effects of Photobiomodulation Therapy in Different Light Wavelength Ranges (Blue, Green, Red, and Near-Infrared) on Sperm Cell Characteristics in Vitro and in Vivo.Reproductive sciences (Thousand Oaks, Calif.) · 2024Pooled it
- Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans.Clinical genetics · 2026Article
- WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- A Western-style diet exacerbates male infertility in M1ap knockout mice.Human reproduction (Oxford, England) · 2026Article
- Seminal Immature Germ Cells as a Predictor of Microdissection Testicular Sperm Extraction for Development of a Combined Predictive Model.The world journal of men's health · 2026Article
- Areas of Controversy and Confusion in Male Infertility: A Call for Clarity.The world journal of men's health · 2026Article
- Ubc9 Mediates SUMO2/3 Modification to Regulate Meiosis in Male Mice.Biomedicines · 2026Article
- SMC1A is required for fate determinations of human spermatogonial stem cells and male fertility by interacting with YBX1 and stabilizing HMGA2 mRNA via an mCell death and differentiation · 2026Article
- Review
- Sperm DNA Fragmentation in Native Semen: A Reflection of Apoptotic and Non-Viable Spermatozoa and Its Implications for Assisted Reproduction.International journal of molecular sciences · 2026Article
- Comparative Assessment of Manual Versus Automated Semen Analysis and the Role of Novel Biomarker Calprotectin in Screening for Male Factor Infertility.Iranian journal of pathology · 2026Article
- Loss-of-function mutations in Ccdc113 cause male infertility in both humans and mice.Asian journal of andrology · 2026Article
- Loss-of-Function SSFA2 Variants Disrupt Fertility Through Impaired Acrosome Formation and Sperm Function.Andrology · 2026Article
- Novel biallelic FSIP2 variants cause male infertility with multiple morphological abnormalities of sperm flagella in humans.Asian journal of andrology · 2026Article
- N-myristoyltransferase 1, a key gene for protein N-myristoylation, is dispensable for fertility in male mice.The Journal of reproduction and development · 2026Article
398 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Male infertility is a multifactorial pathological condition affecting approximately 7% of the male population. The genetic landscape of male infertility is highly complex as semen and testis histological phenotypes are extremely heterogeneous, and at least 2,000 genes are involved in spermatogenesis. The highest frequency of known genetic factors contributing to male infertility (25%) is in azoospermia, but the number of identified genetic anomalies in other semen and aetiological categories is constantly growing. Genetic screening is relevant for its diagnostic value, clinical decision making, and appropriate genetic counselling. Anomalies in sex chromosomes have major roles in severe spermatogenic impairment. Autosome-linked gene mutations are mainly involved in central hypogonadism, monomorphic teratozoospermia or asthenozoospermia, congenital obstructive azoospermia, and familial cases of quantitative spermatogenic disturbances. Results from whole-genome association studies suggest a marginal role for common variants as causative factors; however, some of these variants can be important for pharmacogenetic purposes. Results of studies on copy number variations (CNVs) demonstrate a considerably higher CNV load in infertile patients than in normozoospermic men, whereas whole-exome analysis has proved to be a highly successful diagnostic tool in familial cases of male infertility. Despite such efforts, the aetiology of infertility remains unknown in about 40% of patients, and the discovery of novel genetic factors in idiopathic infertility is a major challenge for the field of androgenetics. Large, international, and consortium-based whole-exome and whole-genome studies are the most promising approach for the discovery of the missing genetic aetiology of idiopathic male infertility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.