Molecular characteristics of varicocele: integration of whole-exome and transcriptome sequencing

ObjectiveTo explore the exome and transcriptome characteristics potentially underlying pathogenesis of varicocele (VE).DesignExperimental study cohort study.SettingAcademic research laboratory university-affiliated hospital.Patient(s)Eleven VE patients whose fathers also had VE, plus 151 additional 324 healthy men for variants genotyping; rat model, eight Sprague–Dawley male rats.Intervention(s)Partial ligation renal vein was conducted to establish models whole-transcriptome RNA sequencing (RNA-seq).Main Outcome Measure(s)Genes with differential expression and/or harboring potential pathogenic detected via RNA-seq whole-exome (WES) then subjected population-based survey define candidate genes analyzed Gene Ontology Kyoto Encyclopedia Genes Genomes identify VE-involved pathways.Result(s)Whole-transcriptome (RNA-seq) performed using left spermatic veins five three controls. We identified 9,688 18 pathways RNA-seq, WES 160 279 deleterious 16 pathways. Nine (AAMP, KMT2D, IRS2, SPINT1, IFT122, MKI67, DCHS1, LAMA2, CBL) in more than one patient who underwent WES, six these DCHS1) showed expression. The that AAMP, MKI67 were strongly associated risk. Together, two omic 67 data sets revealed four related VE.Conclusion(s)For first time, we have described VE. bi-omics novel involving occurrence development To (VE). Experimental study. Academic hospital. Eleven rats. Partial (RNA-seq). Whole-transcriptome For