150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility
This study includes data from over 724,000 individuals, including data from 7,696 CARTaGENE participants. Researchers identified 150 genetic variants associated with diverticular disease (DivD) of the intestine. Their findings suggest that DivD may be linked to factors related to colon structure, gut motility, gastrointestinal mucus, and ionic balance. Notably, one of the identified genes is a target for a drug used to treat irritable bowel syndrome (IBS), highlighting a potential connection between these two gastrointestinal conditions.
The cell-free DNA methylome captures distinctions between localized and metastatic prostate tumors
The researchers investigated how liquid biopsy using cell-free DNA (cfDNA) methylome analysis can provide insights into the biology of metastatic prostate cancer (mPCa). They analyzed plasma DNA methylomes from 60 patients with localized prostate cancer and 175 patients with metastatic disease. Their findings revealed global hypermethylation in metastatic samples, accompanied by hypomethylation in pericentromeric regions. The authors suggest that liquid biopsy offers a minimally invasive and accurate approach to assess disease progression and potential therapeutic targets in prostate cancer.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.