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. Author manuscript; available in PMC: 2013 Sep 23.
Published in final edited form as: Ann Rheum Dis. 2012 Dec 19;72(0 2):ii56–ii61. doi: 10.1136/annrheumdis-2012-202351

Table 2.

SLE disease phenotypes and associated candidate genes

Disease Phenotype
Anti-nuclear antibodies RASGRP3; ACP5; TREX19;72;73
Anti-dsDNA antibodies STAT4; HLA-DR2&DR3; IRF5; BLK; PDHF1/IRF7; ITGAM; ACP5; UBE2L3; IFIH130;31;34;38;74;75
Anti-RBP antibodies IL10; HLA-DR2&DR3; IRF5; PDHF1/IRF7; TLR722;30;31;75;76
Immunological disorder IL10; DNASE1L3; PDHF1/IRF7; ITGAM10;30;31;77
Anti-phospholipid syndrome STAT4; BLK78
Malar rash FCGR2A; RASGRP3; IKZF172;79
Discoid rash IL10; RASGRP3; LYN; SLC15A4; ITGAM72;79
Oral ulcers STAT4*79
Neurological disorder IL10; TREX173;80
Renal disorder C1Q*; FCGR2A; FCGR3B; TNFSF4; IL10; STAT4; DNASE1L3; C4A&B; C2; TNFAIP3; IKZF1; C1R/C1S; ITGAM; ACP59;10;14;37;41;72;79;81;82
Hematological disorder IL21; TNFAIP3; LYN*; PDHX/CD44; ITGAM; ACP541;50;74;79;83
Vasculitis TNIP172
Arthritis C4A&B; ACP513;74
Early age at disease onset STAT4; ETS137;72

RBP, ribosomal binding protein (included: Sm/RNP, SSA/SSB)

*

These genes confer protection from associated clinical phenotype.