To systematically identify biological connections among the genes located near the 32 confirmed SNPs, and to potentially identify new pathways associated with BMI, we performed pathway-based analyses using MAGENTA33. Specifically, we tested for enrichment of BMI genetic associations in biological processes or molecular functions that contain at least one gene from the 32 confirmed BMI loci (Online Methods). Using annotations from the KEGG, Ingenuity, PANTHER, and Gene Ontology databases, we found evidence of enrichment for pathways involved in the platelet-derived growth factor (PDGF) signaling (PANTHER, P = 0.0008, FDR = 0.0061), translation elongation (PANTHER, P = 0.0008, FDR = 0.0066), hormone or nuclear hormone receptor binding (Gene Ontology, P < 0.0005, FDR < 0.0085), homeobox transcription (PANTHER, P = 0.0001, FDR = 0.011), regulation of cellular metabolism (Gene Ontology, P = 0.0002, FDR = 0.031), neurogenesis and neuron differentiation (Gene Ontology, P < 0.0002, FDR < 0.034), protein phosphorylation (PANTHER, P = 0.0001, FDR = 0.045) and numerous other pathways related to growth, metabolism, immune and neuronal processes (Gene Ontology, P < 0.002, FDR < 0.046) (Supplementary Table 5).
