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rs1143679

From SNPedia

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Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome16
Position31265490
GeneITGAM
is asnp
is mentioned by
dbSNPrs1143679
ebirs1143679
HLIrs1143679
Exacrs1143679
Varsomers1143679
Maprs1143679
PheGenIrs1143679
hapmaprs1143679
1000 genomesrs1143679
hgdprs1143679
ensemblrs1143679
gopubmedrs1143679
geneviewrs1143679
scholarrs1143679
googlers1143679
pharmgkbrs1143679
gwascentralrs1143679
openSNPrs1143679
23andMers1143679
23andMe allrs1143679
SNP Nexus

SNPshotrs1143679
SNPdbers1143679
MSV3drs1143679
GWAS Ctlgrs1143679
GMAF0.08815
Max Magnitude3
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 19129174OA-icon.png] reconfirmed

OMIM609939
DescSYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6
Variant
Relatedalso
OMIM152700
DescSYSTEMIC LUPUS ERYTHEMATOSUS; SLE
Variant
Relatedalso
OMIM120980
DescINTEGRIN, ALPHA-M; ITGAM
Variant
Relatedalso

[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors


[PMID 19939855OA-icon.png] ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash, and immunologic manifestations in lupus patients with European ancestry



[PMID 21840425OA-icon.png] Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases


[PMID 21362770OA-icon.png] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts


[PMID 22523428OA-icon.png] Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries


[PMID 22586164OA-icon.png] The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.


[PMID 19286673OA-icon.png] ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai.


[PMID 19442287OA-icon.png] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.


[PMID 19849816OA-icon.png] 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.


GET Evidence
ITGAM-R77H
aa_change Arg77His
aa_change_short R77H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.105299
summary



[PMID 23386618OA-icon.png] Complement receptor 3 influences Toll-like receptor 7/8 dependent inflammation: implications for autoimmune diseases characterized by antibody reactivity to ribonucleoproteins


[PMID 23451151OA-icon.png] 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 22922229OA-icon.png] Seven newly identified loci for autoimmune thyroid disease.