Cross-Tissue Regulatory Network Analyses Reveal Novel Susceptibility Genes and Potential Mechanisms for Endometriosis

Simple Summary Endometriosis (EMT) is a chronic gynecological disease affecting millions of women. Nevertheless, the precise mechanisms underlying this disorder remain largely unexplored. In this study, we conducted transcriptome-wide association study (TWAS) analyses to uncover novel susceptibility genes linked to EMT. In addition, we employed Mendelian randomization (MR) and colocalization analyses to delve into the causal associations between candidate genes across different tissues and EMT. Moreover, to elucidate the mechanisms by which these genes influence the risk of EMT, we conducted two-sample network MR analyses to assess the mediating roles of modifiable risk factors in the causal pathways connecting identified genes across tissues and EMT. Our findings revealed that expression levels of several genes, including CISD2, EFRB, GREB1, IMMT, SULT1E1, and UBE2D3, across various tissues influenced the risk of EMT, with blood lipids levels and hip circumference serving as mediators in these associations. These findings contribute to a deeper understanding of the tissue-specific transcriptional regulatory mechanisms associated with EMT, offering insights that may enhance the management and treatment strategies for EMT.

• Publication year

  2024

• Venue

  Biology

• Publication date

  2024-10-26

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.3390/biology13110871PMID 39596826PMCID 11591882
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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