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. 2017 Jun 15;19:138. doi: 10.1186/s13075-017-1345-6

Table 3.

Genetic pathways associated with the SLE phenotypes in the discovery stage

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