Genetic correlation and causation of craniofacial microsomia with 33 diseases in Asian populations: insights from large-scale genome-wide cross-trait analysis.

ABSTRACT: The primary aim of our study was to investigate the genetic correlations, colocalized genes, and causal relationships between craniofacial microsomia (CFM) and 33 diseases (including tumours and respiratory, heart, and kidney diseases). On the basis of extensive summary-level data from genome-wide association studies (GWASs), we evaluated the genetic linkage between CFM and a spectrum of 33 medical conditions using linkage disequilibrium score regression (LDSC). We employed PLACO to identify pleiotropic loci and genes associated with CFM and other diseases. These genes were subsequently subjected to Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. Finally, the causal effect of CFM on the 33 diseases was assessed through Mendelian randomization (MR)

SUBMITTER: Luo P 

PROVIDER: S-EPMC12325793 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature