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Table 1 Myositis-specific and associated autoantibody targets and significant or suggestive SNPs used in analyses

From: Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

Autoantibody targets (n = 28) SNPs (n = 22)
Symbol Description MSA/MAA rsID Coordinates (GRCh37 assembly) Immunochip p value [9] Clinical group
GARS Glycyl-tRNA synthetase Anti-EJ rs5754467 Chr22:21985094 4.67 × 10-07 IIM
YARS Tyrosyl-tRNA synthetase Anti-Ha rs6599390 Chr4:956047 6.48 × 10-07 IIM
HARS Histidyl-tRNA synthetase Anti-Jo-1 rs4853540 Chr2:191917317 1.57 × 10-06 IIM
NARS Asparaginyl-tRNA synthetase Anti-KS rs10189330 Chr2:99389870 2.68 × 10-06 IIM
IARS Isoleucyl-tRNA synthetase Anti-OJ rs570676 Chr11:36492191 9.42 × 10-06 IIM
AARS Alanyl-tRNA synthetase Anti-PL-12 rs223900 Chr16:57445376 9.97 × 10-06 IIM
TARS Threonyl-tRNA synthetase Anti-PL-7 rs451375
(Proxy for rs376072)
Chr3:28049889 (1.45 × 10-05) IIM
FARSA Phenylalanyl-tRNA synthetase, alpha subunit Anti-Zo-α rs3116494 Chr2:204592021 1.54 × 10-05 IIM
FARSB Phenylalanyl-tRNA synthetase, beta subunit Anti-Zo-β rs11064180 Chr12:6523249 1.61 × 10-05 IIM
CHD3 Chromodomain helicase DNA binding protein 3 Anti-Mi-2α rs2476601 Chr1:114377568 7.22 × 10-09/7.90 × 10-11 IIM/PM
CHD4 a Chromodomain helicase DNA binding protein 4 Anti-Mi-2β rs3094013 Chr6:31434366 6.36 × 10-76 PM
SRP54 Signal recognition particle 54 kDa Anti-SRP rs9905921 Chr17:71527243 2.01 × 10-06 PM
SAE1 Small ubiquitin related modifier 1 activating enzyme subunit 1 Anti-SAE-1 rs7956536 Chr12:109980516 3.66 × 10-06 PM
UBA2 Ubiquitin-like modifier activating enzyme 2 Anti-SAE-2 rs2286896 Chr2:191535576 3.76 × 10-06 PM
TRIM33 Tripartite motif containing 33 Anti-TIF1γ rs17799348 Chr8:11333521 4.13 × 10-06 PM
TRIM24 Tripartite motif containing 24 Anti-TIF1α rs917998
(Proxy for rs1420095)
Chr2:103068156 (6.16 × 10-06) PM
TRIM28 Tripartite motif containing 28 Anti-TIF1β rs4690220
(Proxy rs11724804 in GRAIL)
Chr4:980464 7.47 × 10-06 PM
IFIH1 Interferon induced with helicase C domain 1 Anti-MDA5 rs7535818
(Proxy rs2984920 in GRAIL)
Chr1:192545099 1.37 × 10-05 PM
NT5C1A 5'-nucleotidase, cytosolic 1A Anti-NT5C1A rs3129927 Chr6:32333827 3.74 × 10-48/2.06 × 10-129 DM/JDM/IIM
ABTB1 Ankyrin repeat and BTB (POZ) domain containing 1 Anti-Fer rs4702698 Chr5:10517908 4.77 × 10-06 DM/JDM
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase Anti-HMGCR rs4921293 Chr5:159928876 8.27 × 10-06 DM/JDM
MORC3 MORC family CW-type zinc finger 3 Anti-NXP2 rs1008723 Chr17:38066267 9.05 × 10-06 DM/JDM
PMS1 Postmeiotic segregation increased 1 Anti-PMS1     
PMS2 Postmeiotic segregation increased 2 Anti-PMS2     
MLH1 MutL homolog 1 Anti-MLH1     
PRKDC Protein kinase, DNA-activated, catalytic polypeptide Anti-DNA PKCS     
EXOSC9 Exosome component 9 Anti-PMScl-75     
EXOSC10 Exosome component 10 Anti-PMScl-100     
  1. Single nucleotide polymorphisms (SNPs) were included if they reached the suggestive significance threshold (p < 2.25 × 10-5) for association with idiopathic inflammatory myopathies (IIM) in the Immunochip study published by Rothwell et al., 2015. Subset of autoantibody targets used in Disease Association Protein-Protein Link Evaluator (DAPPLE) formed by selecting one protein from each complex are shown in bold (n = 21). Subset of SNPs used in Gene Relationships Across Implicated Loci (GRAIL) analysis due to overlapping regions also shown in bold (n = 19) and proxies used for unrecognised SNPs are in brackets. aCHD4 also not included in GRAIL analysis due to overlapping regions (autoantibody targets = 27). Clinical groups included polymyositis (PM), adult/juvenile dermatomyositis (DM/JDM) and all sub-groups combined (IIM)