Review Article

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Table 1

Genetic variants associated with disease manifestations.

Disease phenotypesGenetic variants associated with related SNPs

Skin involvementITGAM rs1143679
FCGR2A rs1801274
IL-6 174G/C
VDR rs1168268

SerositisTRAF3IP2 rs33980500, rs13190932, and rs13196377
PTPN2 rs2542151

Kidney involvementHLADR2, HLADR3 rs2187668 
STAT4 rs7574865, rs11889341, rs7568275, and rs7582694
ITGAM rs1143683, rs1143679
IRF5 rs2004640, rs2079197, and rs10488631
IRF7 rs4963128
TNFS4 rs2205960
DNAse I Q222R

Neurologic disorderTREX1 rs922075, rs6776700, rs6442123, rs2242150, and rs11797

Joint involvementITGAM rs1143679
FGCR2A, FCGR3A 
VDR rs3890733
Mir146a rs2910164

Hematological featuresIL-21 rs907715
STK17A haplotype TAGTC

Immunologic disordersAnti-dsDNA
 HLADR2, HLADR3 rs2187668 
 STAT4 rs7582694, rs7574865
 ITGAM rs1143679, rs9888739
 IRF5 rsrs10488631
SSA/SSB
 ITGAM rs1143679
 IRF7 rs4963128
 HCP5 rs3099855
 HLADR3 rs2187668
RNP
 ITGAM rs1143679
Sm
 ITGAM rs7574865
aCL
 HCP5 rs3099844
C3 reduction
 Mir146a rs2910164
C4 reduction
 TRAF3IP2 rs33980500