|Human||TLR9||54106||toll-like receptor 9|
TLR9 may have a critical role in the promotion of lupus through the induction of IFN-alpha by predendritic cells
PD-L1 expression is central to autoimmune heart and lung disease in lupus-susceptible (MRL) mice, since PD-L1-null MRL mice succumb to autoimmune myocarditis and pneumonitis before developing renal or systemic illness
|Human||VDR||7421||vitamin D (1,25- dihydroxyvitamin D3) receptor|
|Human||TNFRSF1B||7133||tumor necrosis factor receptor superfamily, member 1B|
Title:Association of tumor necrosis factor receptor type II polymorphism 196R with Systemic lupus erythematosus in the Japanese: molecular and functional analysis.|Association:Y|Conclusion:These results suggest that 196R TNFRII, which transduces the signals of TNFalpha more effectively than does 196M TNFRII, is involved in the pathogenesis of SLE.
|Human||TAP2||6891||transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)|
Title:Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus.|Association:Y|Conclusion:The association of TAP2*Bky2 was found with the antibody production to both 60 and 52kDa SS-A/Ro antigens. As TAP2*Bky2 had a strong linkage disequilibrium with DRB1*08032, TAP2*Bky2 or its haplotype with DRB1*08032 may be involved in SS-A/Ro antibody production not only in SS but also SLE patients, indicating that TAP2*Bky2 may be a susceptible gene not only to the disease of SS but also to the SS-A/Ro autoantibody production.
|Human||TRIM21||6737||tripartite motif containing 21|
Antibody subsets may represent important biomarkers to predict a complication in pregnant lupus women with Ro52 antibodies
Title:Association of the A561C E-selectin polymorphism with systemic lupus erythematosus in 2 independent populations.|Association:Y|Conclusion:In 2 of 3 populations studied, the E-selectin C allele was significantly more common in SLE than in controls. E-selectin may be a susceptibility gene to SLE in these populations. Its role in disease expression and longterm outcomes such as accelerated atherosclerosis requires further study.
|Human||CCL14||6358||chemokine (C-C motif) ligand 14|
SLE, this study reveals strong associations with a marker and a haplotype encompassing the CCL14 gene, which suggests that a lupus relevant variant may lie within or in the proximity of this haplotype
|Human||CCL2||6347||chemokine (C-C motif) ligand 2|
A genetic polymorphism in the 5' flanking region of the MCP-1 gene is associated with nephritis in lupus through modulating MCP-1 expression
|Human||PDCD1||5133||programmed cell death 1|
6867C/G sinsgle nucleotide polymorphism of the PD-1 gene is associated with lupus nephropathy in Caucasian SLE patients
Title:A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.|Association:Y|Conclusion:We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0.00001, r.r. (relative risk) = 2.6) and Mexicans (found in 7% of affected individuals versus 2% of controls; P = 0.0009, r.r. = 3.5). The associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1, also called AML1) located in an intronic enhancer, suggesting a mechanism through which it can contribute to the development of SLE in humans.
Data suggest that defects in Notch1 upregulation upon activation of T cells from patients with systemic lupus erythematosus are related to lupus disease activity
|Human||MBL2||4153||mannose-binding lectin (protein C) 2, soluble|
Title:Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients.|Association:Y|Conclusion:Only in SLE patients fulfilling >/=4 ACR criteria an increased frequency of MBL variant alleles was found. MBL variant alleles were also associated with increased risk of disease activity and of complicating infections indicating that the MBL gene is an SLE disease modifier locus.
|Human||LY6E||4061||lymphocyte antigen 6 complex, locus E|
Increased expression of the type I interferon-inducible gene, lymphocyte antigen 6 complex locus E, in peripheral blood cells is predictive of lupus activity in a large cohort of Chinese lupus patients
Elevated IL-16 levels in patients with systemic lupus erythematosus are associated with disease severity but not with genetic susceptibility to lupus
Title:Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10.|Association:Not Found|Conclusion:Of the 7 candidate genes tested, only IL-10 was significantly associated with SLE in Italian patients. This genetic marker represents, apart from HLA, the only genetic susceptibility factor for SLE found so far in the Italian population.
Title:|Association:Not Found|Conclusion:Not Found
Title:A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis.|Association:Y|Conclusion:IL-8-845C might predispose African Americans with SLE nephritis to more severe renal injury, perhaps by influencing IL-8 expression. Genotyping patients with glomerulonephritis for IL-8 polymorphisms may be useful in predicting disease outcome and individualizing immunosuppressive therapy.
|Human||IL6||3569||interleukin 6 (interferon, beta 2)|
|Human||IL1RN||3557||interleukin 1 receptor antagonist|
|Human||IFNGR1||3459||interferon gamma receptor 1|
|Human||IFN1@||3438||interferon, type 1, cluster|
Human monocytes produce abundant IFN-alpha following Toll-like receptor-4 engagement, whether the cells have been pretreated either with IFN-beta or with a supernatant from dendritic cells activated by RNA-containing immune complexes from lupus patients
|Human||IFI16||3428||interferon, gamma-inducible protein 16|
increased expression levels may contribute to lupus and other autoimmune diseases susceptibility
|Human||FOXO1||2308||forkhead box O1|
FOXO1 transcript levels in RA patients and in SLE patients with active disease activity were significantly lower than those in normal controls, and the FOXO1 transcript levels were inversely correlated with lupus disease activity