Chan, C.-C.; Yen, T.-H.; Tseng, H.-C.; Mai, B.; Ho, P.-K.; Chou, J.-L.; Wu, G.-J.; Huang, Y.-C. A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort. Int. J. Mol. Sci.2023, 24, 15363.
Chan, C.-C.; Yen, T.-H.; Tseng, H.-C.; Mai, B.; Ho, P.-K.; Chou, J.-L.; Wu, G.-J.; Huang, Y.-C. A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort. Int. J. Mol. Sci. 2023, 24, 15363.
Chan, C.-C.; Yen, T.-H.; Tseng, H.-C.; Mai, B.; Ho, P.-K.; Chou, J.-L.; Wu, G.-J.; Huang, Y.-C. A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort. Int. J. Mol. Sci.2023, 24, 15363.
Chan, C.-C.; Yen, T.-H.; Tseng, H.-C.; Mai, B.; Ho, P.-K.; Chou, J.-L.; Wu, G.-J.; Huang, Y.-C. A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort. Int. J. Mol. Sci. 2023, 24, 15363.
Abstract
Background: Identifying genetic mutations that lead to spermatogenic impairment is essential for offering patients informed genetic counseling and preventing the transmission of genetic defects to their offspring, often through the use of advanced reproductive technologies. Objectives: The purpose of this study was to identify potential single nucleotide polymorphisms (SNPs) associated with male infertility. Methods and Materials: Genetic variants that may cause infertility are identified by combining targeted next generation sequencing (NGS) panel and whole exome sequencing (WES). The validation step of Sanger sequencing adds confidence to the identified variants. Results: Our analysis revealed five distinct affected genes covering seven SNPs: based on targeted NGS panel and WES data, namely SPATA16 (rs16846616, 1515442, 1515441), CFTR (rs213950), KIF6 (rs2273063), STPG2 (r2903150) and DRC7 (rs3809611). Infertile men have a higher mutation rate than fertile men, especially those with azoospermia. Discussion and Conclusions: These findings strongly support the hypothesis that dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility. The SPATA16, CFTR, KIF6, STPG2 and DRC7 mutations are associated with male infertility, specifically azoospermia, further examination of this genetic function is required.
Keywords
male infertility; azoospermia; oligozoospermia; next-generation sequencing; single nucleotide polymorphism; microtubule-associated genes
Subject
Medicine and Pharmacology, Reproductive Medicine
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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