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The following is a summary of “A cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia,” published in the January 2025 issue of Urology by Wang et al.
Benign prostatic hyperplasia (BPH) is a common urinary disorder with a significant genetic component. The specific genes and mechanisms involved remain unclear.
Researchers conducted a prospective study to explore the genetic basis of BPH.
They analyzed 177,901 individuals (36,601 cases, 141,300 controls) from the FinnGen R10 dataset and GTEx v8 EQTLs files using single-tissue and cross-tissue transcriptome-wide association studies (TWAS). FUSION validated tissue-specific findings. Marker Analysis of Genomic Annotation (MAGMA) identified susceptibility genes, while mendelian randomization (MR), summary data-based MR (SMR), and colocalization studies analyzed intersection genes. Fine mapping of causal gene sets (FOCUS), gene expression omnibus (GEO), and GeneMANIA evaluated functional roles.
The results showed that cross-tissue TWAS identified 28 genes linked to BPH susceptibility. Single-tissue TWAS and MAGMA refined this to 8 genes, and MR, SMR, FOCUS, and colocalization pinpointed INO80B. GEO confirmed its differential expression.
Investigators identified INO80B as a key gene associated with BPH risk, offering new insights into its genetic basis. Further functional studies were needed to explore its biological activity.
Source: nature.com/articles/s41598-025-87651-y
