[Multi-omics identification of microvascular endothelium-related genes in patients with diabetic organic erectile dysfunction].

Authors

Lijuan Wu, Weizhuo Wang, Kang Chen, Zheng Tang, Kai Fu, Mingyan Tang, Wanglei Yang

Published in

Zhonghua nan ke xue = National journal of andrology. Volume 31. Issue 11. Pages 972-978.

Abstract

Objective To integrate patient clinical information with single-cell sequencing analysis to identify key genes involved in organic erectile dysfunction （ED） in diabetic patients, and to further validate these findings using genome-wide association study （GWAS） data to pinpoint the genes associated with diabetic organic ED. Methods Single-cell RNA sequencing data were downloaded from the GSE206528 dataset, comprising samples from five patients including three individuals without ED or diabetes, and two patients diagnosed with diabetic ED. Data preprocessing, cell clustering, and annotation were performed using R, followed by extraction of microvascular endothelial cells for differential expression analysis. Enrichment analysis of the identified differentially expressed genes (DEGs) was conducted using the Hiplot platform. Expression quantitative trait loci (eQTL) single nucleotide polymorphisms (SNPs) corresponding to these DEGs were retrieved from the UK Biobank (UKB) database as exposures. ED (GWAS ID: ebi-a-GCST006956) was defined as the outcome variable. Mendelian randomization (MR) analysis was then performed to identify potential causal genes. ResultsUsing the Seurat package, single-cell RNA sequencing data from the five patients underwent quality control and integration. After cell type identification, a subset of microvascular endothelial cells was selected for differential expression analysis, resulting in the identification of 214 DEGs. Functional enrichment analysis revealed that these genes were significantly enriched in pathways related to diabetic complications, including the AGE-RAGE signaling pathway, TNF signaling pathway, and oxidative phosphorylation. Subsequently, MR analysis was performed on the 214 DEGs, using erectile dysfunction (ebi-a-GCST006956) as the outcome. Six genes were identified as potential causal genes including MYL9, NFIB, ENDOD1, DES, NRARP and HSPA1B. ConclusionThese findings suggest that MYL9, NFIB, ENDOD1, DES, NRARP and HSPA1B may play a role in the progression of organic ED in diabetic patients.

PMID:
43001697
Bibliographic data and abstract were imported from PubMed on 09 Nov 2026.

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