Discovering Novel Genome Mutations Associated with Liver and Pancreas Disorders: Insights from a Radiogenomics Study

Radiogenomics provides a powerful approach to identify genetic variants linked to imaging-derived phenotypes, offering insights into the genetic underpinnings of organ function and disease susceptibility. The liver and pancreas are critical to metabolism, digestion, and detoxification, with their dysfunction leading to conditions such as pancreatitis, diabetes, and cancer. This study used a genome-wide association study (GWAS) to identify genetic variants associated with liver and pancreas radiomics phenotypes derived from magnetic resonance imaging (MRI). We conducted a cross-sectional study using data from 38,844 unique subjects in the UKBiobank, each with available MRI scans and genome sequences. We identified several novel single nucleotide polymorphisms (SNPs) associated with liver and pancreas characteristics. Notable findings include associations with rs1800562 (HFE gene), rs58542926 (TM6SF2 gene), rs738409 (PNPLA3 gene), and rs855791 (TMPRSS6 gene). These findings may contribute to our understanding of the genetic basis of organ function and could potentially help in future preventive healthcare.