Differentially expressed male infertility-associated genes in sperm as prospective diagnostic biomarkers

Abstract

Abstract Background Genetic defects in sperm are responsible for a great percentage of male infertility. The association between numerous genes and spermatogenesis has been observed. Dysregulation of these genes greatly influence sperm morphology, motility and viability. Therefore, analyzing gene expression aberrancies is a must in male infertility. Microarray analysis is practically used for several aspects in male infertility including detection of differentially expressed genes (DEGs), selection of finest sperm for assisted reproductive therapy (ART) and identification of potential infertility biomarkers. Methods We conducted a meta-analysis using microarray datasets from NCBI.GEO. We have included datasets containing sperm tissues from both healthy and infertile males. Seven datasets qualified for inclusion in this study. These data were then transformed into a single set of meta-data. For these genes, expression and diagnostic analyses were conducted. In addition, enrichment analysis revealed the role and function of these genes in cellular processes. Results Six genes, including S100Z, SLC2A2, IMPG1, HOXD12, RAPGEFL1, and DMBX1, were identified as being significantly down-regulated in infertile men's sperm. Notably, the expression of these genes was highly correlated in sterile sperm. In addition, an analysis of the receiver operating curve indicated that these genes may serve as useful biomarkers for infertility diagnosis. The role of these genes in transporting glucose, vitamins and fructose as the sperm's primary fuel source, was suggested by pathway analysis. Conclusion Overall, our results suggest genes with expression abnormalities that may mediate the underlying mechanisms of infertility and also offer promising diagnostic values.