Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE A second study carried out in patients from Yucatan, a southeastern part of Mexico (with a high Amerindian ancestry), also replicated SLE association with all four SNPs, including the functional SNP, rs1143679 (OR = 24.6 and p = 9.3X10-6). 31774828

2019

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Conclusion CD11b rs</span>1143679 appears to be associated with risk for SLE in the Han Chinese population, and may play an important role in the development of lupus nephritis. 29207897

2018

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
A 0.900 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE We aimed to analyze three SNPs located in the <i>STAT4</i> (rs7574865), <i>ITGAM</i> (rs1143679) and <i>TNXB</i> (rs1150754) genes in both DLE and SLE patients from Poland. 28670251

2017

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
A 0.900 GeneticVariation GWASCAT Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. 26606652

2016

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE This includes a detailed examination of molecular mechanisms that could explain the risk-conferring effect of rs1143679, a single nucleotide non-synonymous Mac-1 polymorphism associated with SLE. 26683153

2016

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The R77H variant of CD11b, encoded by the ITGAM rs1143679 polymorphism, is associated robustly with development of the autoimmune disease systemic lupus erythematosus (SLE) and impairs CR3 function, including its regulatory role on monocyte immune signalling. 27118513

2016

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Our meta-analyses confirm that the ITGAM rs1143679 polymorphism is associated with SLE susceptibility in different ethnic groups and demonstrate that the polymorphism is associated with LN in European. 25315704

2015

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE A common (minor allele frequency = 17.4% in cases) nonsynonymous coding variant rs1143679 (R77H) in ITGAM (CD11b), which forms half of the heterodimeric integrin receptor, complement receptor 3 (CR3), is robustly associated with SLE and has been shown to impair CR3-mediated phagocytosis. 24886912

2014

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE This two-pronged contribution (nucleic acid- and protein-level) of the rs1143679 risk allele to decreasing ITGAM activity provides insight into the molecular mechanisms of its potent association with SLE. 24608226

2014

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE These results showed that the rs1143679 variant is also associated with the risk to SLE in our population and with the risk to specific clinical manifestations, as nephritis and presence of antiphospholipid antibodies. 24269694

2014

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The minor allele of a non-synonymous CR3 polymorphism (rs1143679, conversation of arginine to histidine at position 77: R77H) represents one of the strongest genetic risk factor in human systemic lupus erythematosus, with heterozygosity (77R/H) being the most common disease associated genotype. 23451151

2013

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Multiple studies have demonstrated that single-nucleotide polymorphisms (SNPs) in the ITGAM locus (including the nonsynonymous SNPs rs1143679, rs1143678, and rs1143683) are associated with systemic lupus erythematosus (SLE). 23918739

2013

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE ITGAM and its associated 'predisposing' variant (rs1143679, Arg77His), predicted to alter the tertiary structures of the ligand-binding domain of ITGAM, may play a key role for SLE pathogenesis. 21840425

2012

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes. 22586164

2012

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The A-allele of ICAM1-ICAM4-ICAM5 rs3093030, associated with elevated plasma levels of soluble ICAM1, and the A-allele of ITGAM rs1143679 showed the strongest association with increased SLE susceptibility in each of the ancestry populations and the trans-ancestry meta-analysis (OR(meta)=1.16, 95% CI 1.11 to 1.22; p=4.88×10(-10) and OR(meta)=1.67, 95% CI 1.55 to 1.79; p=3.32×10(-46), respectively). 22523428

2012

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The overall ORs for the minor A-allele (OR 1.795; 95%CI 1.676-1.921), AA vs. GG (OR 3.540; 95%CI 2.771-4.522), AG vs. GG (OR 1.750; 95%CI 1.617-1.895), dominant model (OR 1.857;95%CI 1.719-2.005), recessive model (OR 3.041; 95%CI 2.384-3.878) of ITGAM rs1143679 were significantly increased in SLE and fixed effects models were conducted. 20629846

2011

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Recently, a single nucleotide polymorphism conferring an amino acid change in the Mac-1 integrin extracellular domain, R77H, was shown to be associated with systemic lupus erythematosus. 21454473

2011

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE ITGAM Arg77His is associated with disease susceptibility, arthritis, and renal symptoms in systemic lupus erythematosus patients from a sample of the Polish population. 20666624

2011

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry. 19939855

2010

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Taken together along with our earlier findings, these results demonstrate that the coding variant, rs1143679, best explains the ITGAM-SLE association, especially in European- and African-derived populations, but not in Asian populations. 19129174

2009

dbSNP: rs1143679
rs1143679
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation GWASDB ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai. 19286673

2009