Topic modeling identifies novel genetic loci associated with multimorbidities in UK Biobank.

ABSTRACT: Many diseases show patterns of co-occurrence, possibly driven by systemic dysregulation of underlying processes affecting multiple traits. We have developed a method (treeLFA) for identifying such multimorbidities from routine health-care data, which combines topic modeling with an informative prior derived from medical ontology. We apply treeLFA to UK Biobank data and identify a variety of topics representing multimorbidity clusters, including a healthy topic. We find that loci identified using topic weights as traits in a genome-wide association study (GWAS) analysis, which we validated with a range of approaches, only partially overlap with loci from GWASs on constituent single diseases. We also show that treeLFA improves upon existing methods like latent Dirichlet allocation in various

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC10435382 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature