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Table 1 Genes proposed to influence SLE risk [1, 2]

From: Developments in the scientific understanding of lupus

Candidate gene Chromosomal location Proposed function
PTPN22 1p13 T cell activation
FCGR-2A, FCGR-2B, FCGR-3A, FCGR-3B 1q23-25 Fc receptors; clearance of immune complexes
TNFSF-4 1p36 TNFα expression
STAT-4 2q32 T cell cytokine production and macrophage response to IFN-α
CTLA-4 2q33 T cell activation
PDCD-1 2q37 Lymphocyte differentiation
PXK 3p14 Unknown
HLA-DR2, HLA-DR3 6p11-p21 Antigen presentation
IRF-5 7q32 Expression of IFN-α
BLK-C8orf13 8p23 B cell development and function
MBL-2 10q11 Antigen presentation and immune complex clearance
KIAA1542 11p15 Interferon alpha expression?
ITGAM 16p11 Adherence of neutrophils and monocytes to endothelium
  1. BLK = B lymphocyte tyrosine kinase; CTLA = cytotoxic T-lymphocyte associated; FCGR = Fc gamma receptor; HLA = human leukocyte antigen; IFN = interferon; IRF = interferon regulatory factor; ITGAM = integrin alpha(M); MBL = mannose binding lectin; PDCD = programmed cell death; PTPN = protein tyrosine phosphatase nonreceptor; SLE = systemic lupus erythematosus; STAT = signal transducer and activator of transcription; TNF = tumor necrosis factor; TNFSF = tumor necrosis factor ligand superfamily.
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