Research Article

Gene-Expression-Guided Selection of Candidate Loci and Molecular Phenotype Analyses Enhance Genetic Discovery in Systemic Lupus Erythematosus

Table 2

Summary of the 4 SNPs associated with SLE phenotypes and the SCAN database results regarding ancestral background and representative associated transcripts.

SNPChr.Nearby GeneSLE association ancestryAssociated phenotypeSCAN ancestryRepresentative SCAN transcripts

rs9521996 C13ANKRD10AAAnti-RNPYRIIRF3, MIF
rs1408806 G9TYRP1EAAnti-SmCEPHCASP3, RIPK1
rs4894215 G2None within 200kbEAAnti-RoCEPHHLADRB1, HLADQB1
rs9568401 G13DLEU2EA, AAIFNYRIIRAK2, NOD2

SNP: single nucleotide polymorphism, chr.: chromosome, SLE association ancestry: the ancestral background in which the SNP was associated with an SLE phenotype, SCAN ancestry: the ancestral background in which that SNP was associated with alternate gene expression, representative SCAN transcripts: genes which differentially expressed due to genotype at that SNP in the SCAN database; two transcripts of the >15 were chosen for inclusion in this table, with an emphasis on those transcripts with immune system relevance.