Table 3.
Pathway | Phenotype | #Genes | SNPs | P D | FDR D | P V | FDR V | P C |
---|---|---|---|---|---|---|---|---|
RIG-I/MDA5 negative regulation signaling | Antinuclear antibodies | 31 | 464 | 2.00e-5 | 0.016 | 0.234 | 0.234 | - |
VEGFa | Oral ulcers | 29 | 883 | 5.58e-5 | 0.044 | 0.013 | 0.026 | 2.08e-5 |
Two genetic pathways were significantly associated with systemic lupus erythematosus (SLE) phenotypes in the discovery stage
Abbreviations: SNP single-nucleotide polymorphism, P D P value discovery cohort, FDR D false discovery rate discovery cohort, P V P value validation cohort, FDR V false discovery rate validation cohort, P C P value combined
aThe association between the vascular endothelial growth factor (VEGF) pathway and oral ulcers was significantly replicated in the validation cohort