{{Rsnum
|rsid=5498
|Gene=ICAM1
|Chromosome=19
|position=10285007
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3499
|Gene_s=ICAM1,ICAM4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 37.5 | 46.4 | 16.1
| HCB | 57.4 | 38.2 | 4.4
| JPT | 34.5 | 47.8 | 17.7
| YRI | 74.0 | 21.9 | 4.1
| ASW | 75.4 | 22.8 | 1.8
| CHB | 57.4 | 38.2 | 4.4
| CHD | 53.7 | 40.7 | 5.6
| GIH | 15.0 | 52.0 | 33.0
| LWK | 85.5 | 13.6 | 0.9
| MEX | 15.8 | 54.4 | 29.8
| MKK | 84.5 | 14.2 | 1.3
| TSI | 22.5 | 52.0 | 25.5
| HapMapRevision=28
}}
[[rs5498]], also known as E469K or K469E, is a SNP in the [[ICAM1]] gene that has been associated in some studies (and not others) with risk for [[type-1 diabetes]] (T1D). Studies involving Swedish {{PMID|16978373|OA=1
}}and Japanese {{PMID|10773353}} T1D patients have reported one or the other of the [[rs5498]] alleles to represent increased T1D risk; studies involving British, Finnish, and Danish patients have not seen any association between [[rs5498]] and T1D [PMID 11132145, PMID 10902613].

In a study of the type-1 diabetes complication known as diabetic nephropathy (DN), 662 (312 female/350 male) T1D patients with DN and 620 (369/251) without DN were studied (all were Swedish Caucasians). The [[rs5498]](G) allele was found to be significantly associated with decreased risk for diabetic nephropathy specifically in female T1D patients, with an odds ratio of 0.692 (CI: 0.5-0.958, p= 0.010).{{doi|10.1186/1471-2350-9-47}}

A study of 552 individuals in India found an association between the [[rs5498]](G) allele and increased risk of severe [[malaria]], with an odds ratio 1.91 (p=0.02).[http://7thspace.com/headlines/299292/variations_in_host_genes_encoding_adhesion_molecules_and_susceptibility_to_falciparum_malaria_in_india.html] 

{{ neighbor
| rsid = 1799969
| distance = 891
}}

{{GWAS Summary
|SNP=rs5498
|PubMedID=18604267
|Condition=Soluble ICAM-1
|Gene=ICAM1
|Risk Allele=A
|pValue=5.00E-025
|OR=13.22
|95CI=NR) umol/L increas
|OA=1
}}

{{PMID Auto
|PMID=18420209
|Title=ICAM1 and VCAM1 polymorphisms, coronary artery calcium, and circulating levels of soluble ICAM-1: the multi-ethnic study of atherosclerosis (MESA)
|OA=1
}}

{{PharmGKB
|RSID=rs5498
|Name_s=
|Gene_s=ICAM1, ICAM5, ICAM4
|Feature=
|Evidence=PubMed ID:18604267; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women (Initial Sample Size: 4,570 women; Replication Sample Size: 2,008 women; Risk Allele: rs5498-A). This variant is associated with Soluble ICAM-1.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Malaria; Myocardial Infarction; Stroke
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356566
}}

{{PMID Auto
|PMID=21392767
|Title=Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1)
|OA=1
}}

{{PMID Auto GWAS
|PMID=21533024
|Trait=None
|Title=Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
|RiskAllele=G
|Pval=6E-89
|OR=13.8000
|ORtxt=[NR] ng/mL increase
|OA=1
}}

{{PMID Auto
|PMID=16385446
|Title=A testing framework for identifying susceptibility genes in the presence of epistasis.
|OA=1
}}

{{PMID Auto
|PMID=16625213
|Title=ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 levels.
}}

{{PMID Auto
|PMID=16733712
|Title=ICAM gene cluster SNPs and prostate cancer risk in African Americans.
}}

{{PMID Auto
|PMID=16820586
|Title=Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
|OA=1
}}

{{PMID Auto
|PMID=17677000
|Title=Combined effects of thrombosis pathway gene variants predict cardiovascular events.
|OA=1
}}

{{PMID Auto
|PMID=17705862
|Title=Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
|OA=1
}}

{{PMID Auto
|PMID=17903293
|Title=Genome-wide association with select biomarker traits in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=18045485
|Title=The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18505543
|Title=Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population.
|OA=1
}}

{{PMID Auto
|PMID=18528404
|Title=Variation in the ICAM1 gene is not associated with severe malaria phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=19048183
|Title=Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence susceptibility to coronary artery disease.
}}

{{PMID Auto
|PMID=19055786
|Title=Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India.
|OA=1
}}

{{PMID Auto
|PMID=20585554
|Title=On the use of variance per genotype as a tool to identify quantitative trait interaction effects: a report from the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=20622166
|Title=Combined effect of inflammatory gene polymorphisms and the risk of ischemic stroke in a prospective cohort of subjects with type 2 diabetes: a Go-DARTS study.
|OA=1
}}

{{GET Evidence
|gene=ICAM1
|aa_change=Lys469Glu
|aa_change_short=K469E
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5498
|overall_frequency_n=3755
|overall_frequency_d=10758
|overall_frequency=0.349043
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23114149
|Title=[Effects of ICAM-1 Gene K469E, K56M Polymorphisms on Plasma sICAM-1 Expression Levels in Chinese Yugur, Tibetan and Han Nationalities]
}}

{{PMID Auto
|PMID=23922864
|Title=Intracellular Adhesion Molecule-1 K469E Gene Polymorphism and Risk of Diabetic Microvascular Complications: A Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23933413
|Title=Prediction value of intercellular adhesion molecule-1 gene polymorphisms for epithelial ovarian cancer risk, clinical features, and prognosis
}}

{{PMID Auto
|PMID=22646485
|Title=Association between genetic variants in adhesion molecules and outcomes after hematopoietic cell transplants
|OA=1
}}

{{PMID Auto
|PMID=24069166
|Title=Combined effects of icam-1 single-nucleotide polymorphisms and environmental carcinogens on oral cancer susceptibility and clinicopathologic development
|OA=1
}}

{{PMID Auto
|PMID=24289603
|Title=Investigation of ICAM-1 and β3 Integrin Gene Variations in Patients with Brain Tumors
}}

{{PMID Auto
|PMID=22573572
|Title=Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).
}}

{{PMID Auto
|PMID=22904330
|Title=ICAM-1 K469E polymorphism is a genetic determinant for the clinical risk factors of T2D subjects with retinopathy in Indians: a population-based case-control study.
|OA=1
}}

{{PMID Auto
|PMID=23274712
|Title=Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.
|OA=1
}}

{{PMID Auto
|PMID=23772946
|Title=Association of cell adhesion molecule gene polymorphisms with recurrent aphthous stomatitis.
}}

{{PMID Auto
|PMID=24879712
|Title=ICAM-1 and SRD5A1 gene polymorphisms in symptomatic peripheral artery disease
}}

{{PMID Auto
|PMID=24955718
|Title=Interaction of Intercellular Adhesion Molecule 1 (ICAM1) Polymorphisms and Environmental Tobacco Smoke on Childhood Asthma
}}

{{PMID Auto
|PMID=25003170
|Title=Interaction of intercellular adhesion molecule 1 (ICAM1) polymorphisms and environmental tobacco smoke on childhood asthma
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}