rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
Lupus Erythematosus, Systemic
|
A |
0.900 |
GeneticVariation
|
GWASCAT |
Transancestral mapping and genetic load in systemic lupus erythematosus.
|
28714469 |
2017 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |
rs1143679
|
|
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 |