rs1143679
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | >1.78x increased risk for SLE |
| (A;G) | 2.4 | 1.78x increased risk for SLE |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31265490 |
| Gene | ITGAM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1143679 |
| dbSNP (classic) | rs1143679 |
| ClinGen | rs1143679 |
| ebi | rs1143679 |
| HLI | rs1143679 |
| Exac | rs1143679 |
| Gnomad | rs1143679 |
| Varsome | rs1143679 |
| LitVar | rs1143679 |
| Map | rs1143679 |
| PheGenI | rs1143679 |
| Biobank | rs1143679 |
| 1000 genomes | rs1143679 |
| hgdp | rs1143679 |
| ensembl | rs1143679 |
| geneview | rs1143679 |
| scholar | rs1143679 |
| rs1143679 | |
| pharmgkb | rs1143679 |
| gwascentral | rs1143679 |
| openSNP | rs1143679 |
| 23andMe | rs1143679 |
| SNPshot | rs1143679 |
| SNPdbe | rs1143679 |
| MSV3d | rs1143679 |
| GWAS Ctlg | rs1143679 |
| GMAF | 0.08815 |
| Max Magnitude | 3 |
Causal SNP in the ITGAM (CD11b) gene in patients with SLE who are of European or African descent;(P = 1.7 x 10(-17), odds ratio = 1.78).[PMID 18204448]
[PMID 19129174
] reconfirmed
[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
[PMID 19939855] ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash, and immunologic manifestations in lupus patients with European ancestry
[PMID 21840425] Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
[PMID 21362770] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts
[PMID 22523428] Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries
[PMID 22586164] The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.
[PMID 19286673] ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai.
[PMID 19442287] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
[PMID 19849816] Genetics of rheumatic disease.
[PMID 20629846] Association of ITGAM polymorphism with systemic lupus erythematosus: a meta-analysis.
[PMID 20666624] ITGAM Arg77His is associated with disease susceptibility, arthritis, and renal symptoms in systemic lupus erythematosus patients from a sample of the Polish population.
[PMID 21965647] A nonsynonymous functional variant of the ITGAM gene is not involved in biopsy-proven giant cell arteritis.
[PMID 23386618] Complement receptor 3 influences Toll-like receptor 7/8 dependent inflammation: implications for autoimmune diseases characterized by antibody reactivity to ribonucleoproteins
[PMID 23451151] Phagocytosis Is the Main CR3-Mediated Function Affected by the Lupus-Associated Variant of CD11b in Human Myeloid Cells
[PMID 24264377] Integrin CD11b negatively regulates BCR signalling to maintain autoreactive B cell tolerance
[PMID 22922229] Seven newly identified loci for autoimmune thyroid disease.
[PMID 28670251] Genetic similarities and differences between discoid and systemic lupus erythematosus patients within the Polish population.
[PMID 29207897] Association of the CD11b rs1143679 polymorphism with systemic lupus erythematosus in the Han Chinese population.
[PMID 31774828] ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico.
