rs5491

This is a variant in the ICAM1 gene that changes a lysine to an methionine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

intercellular adhesion molecule 1 measurement

Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)

Allele T

OR 0.14

p 2.0e-36

N 9,268

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Risk Factor

2 submitters5 publications

ICAM1-related disorder; Malaria, cerebral, susceptibility to

View on ClinVar →

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Research that mentions this SNP (2)

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Common variants in genes that mediate immunity and risk of multiple myeloma

AssociationN=672Elizabeth E. Brown et al.(2007)· International Journal of Cancer

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.

Traits studied:Multiple myeloma

PubMed DOI Metascience Observatory

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ICAM gene cluster SNPs and prostate cancer risk in African Americans

AssociationN=677Hankui Chen et al.(2006)· Human Genetics

A case-control study in African American men (286 cases, 391 controls) confirmed that ICAM1 SNPs -9A/C (rs5490, OR=2.5) and K469E (rs5498, OR=1.8) are associated with prostate cancer risk in familial disease. A common ICAM haplotype containing the -9A/C variant was significantly associated with prostate cancer (P=0.03), particularly in men with family history. Unlike previous findings in European populations, ICAM5 SNPs were not associated with prostate cancer in African Americans.

Traits studied:Prostate cancer

PubMed DOI Metascience Observatory

About ICAM1

This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]