Subgroup | Mapped Genes | Immunochip lead SNP | eQTL within r2 >0.9 | References |
---|---|---|---|---|
IIM | UBE2L3|YDJC | rs11089637 | UBE2L3, RIMBP3 | 32–33 |
PM | UBE3B|MMAB | rs7956536 | KCTD10, MMAB | 32–34 |
PM | RGS1 | rs7535818 | RGS1 | 32 |
PM | NAB1 | rs2286896 | STAT1 | 35 |
DM+JDM | GSDMB | rs1008723 | ORMDL3, MED24, KRT222, NR1D1, GSDMB | 33–36 |
eQTLs for the expression of a gene in cells with an immune function (lymphoblastoid and monocytes). RegulomeDB,37 Genevar,38 and the Pritchard lab eQTL browser (http://eqtl.uchicago.edu/cgi-bin/gbrowse/eqtl/) were interrogated. The most significant SNP or any SNP with r2≥0.9 with most significant SNP was used. Genes are indicated along with studies in which the eQTLs were reported.
DM, dermatomyositis; IIM, idiopathic inflammatory myopathy; JDM, juvenile dermatomyositis; PM, polymyositis.