Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(A;A) 0 normal
(A;G) 0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria risk
(G;G) 0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs5498
23andMe allrs5498
SNP Nexus

GWAS Ctlgrs5498
Max Magnitude0
? (A;A) (A;G) (G;G) 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 16978373OA-icon.png]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).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).[1]

SNP rs5498
PubMedID [PMID 18604267OA-icon.png]
Condition Soluble ICAM-1
Gene ICAM1
Risk Allele A
pValue 5.00E-025
OR 13.22
95% CI NR) umol/L increas

[PMID 18420209OA-icon.png] ICAM1 and VCAM1 polymorphisms, coronary artery calcium, and circulating levels of soluble ICAM-1: the multi-ethnic study of atherosclerosis (MESA)

[PMID 21392767OA-icon.png] Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1)

GWAS snp
PMID [PMID 21533024OA-icon.png]
Title Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
Risk Allele G
P-val 6E-89
Odds Ratio 13.8000 [NR] ng/mL increase

[PMID 16385446OA-icon.png] A testing framework for identifying susceptibility genes in the presence of epistasis.

[PMID 16625213] ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 levels.

[PMID 16733712] ICAM gene cluster SNPs and prostate cancer risk in African Americans.

[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.

[PMID 17677000OA-icon.png] Combined effects of thrombosis pathway gene variants predict cardiovascular events.

[PMID 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.

[PMID 17903293OA-icon.png] Genome-wide association with select biomarker traits in the Framingham Heart Study.

[PMID 18045485OA-icon.png] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.

[PMID 18505543OA-icon.png] 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.

[PMID 18528404OA-icon.png] Variation in the ICAM1 gene is not associated with severe malaria phenotypes.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 19048183] Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence susceptibility to coronary artery disease.

[PMID 19055786OA-icon.png] Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India.

[PMID 20585554OA-icon.png] 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.

[PMID 20622166OA-icon.png] 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.

GET Evidence
aa_change Lys469Glu
aa_change_short K469E
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.349043

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

[PMID 23922864OA-icon.png] Intracellular Adhesion Molecule-1 K469E Gene Polymorphism and Risk of Diabetic Microvascular Complications: A Meta-Analysis

[PMID 23933413] Prediction value of intercellular adhesion molecule-1 gene polymorphisms for epithelial ovarian cancer risk, clinical features, and prognosis

[PMID 22646485OA-icon.png] Association between genetic variants in adhesion molecules and outcomes after hematopoietic cell transplants

[PMID 24069166OA-icon.png] Combined effects of icam-1 single-nucleotide polymorphisms and environmental carcinogens on oral cancer susceptibility and clinicopathologic development

[PMID 24289603] Investigation of ICAM-1 and β3 Integrin Gene Variations in Patients with Brain Tumors

[PMID 22573572] Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).

[PMID 22904330OA-icon.png] 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.

[PMID 23274712OA-icon.png] Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.

[PMID 23772946] Association of cell adhesion molecule gene polymorphisms with recurrent aphthous stomatitis.

[PMID 24879712] ICAM-1 and SRD5A1 gene polymorphisms in symptomatic peripheral artery disease

[PMID 24955718] Interaction of Intercellular Adhesion Molecule 1 (ICAM1) Polymorphisms and Environmental Tobacco Smoke on Childhood Asthma

[PMID 25003170OA-icon.png] Interaction of intercellular adhesion molecule 1 (ICAM1) polymorphisms and environmental tobacco smoke on childhood asthma

[PMID 25711033] [Association between inflanummatory gene polymorphisms and the risk of myocardial infarction]

[PMID 26078712OA-icon.png] Impact of Intercellular Adhesion Molecule-1 Genetic Polymorphisms on Coronary Artery Disease Susceptibility in Taiwanese Subjects

[PMID 26255081] Genetic, epigenetic and protein analyses of intercellular adhesion molecule 1 in Malaysian subjects with type 2 diabetes and diabetic nephropathy

[PMID 26341495] Association of intercellular adhesion molecule-1 single nucleotide polymorphisms with hepatocellular carcinoma susceptibility and clinicopathologic development

[PMID 26377999] Single-Nucleotide Polymorphisms and Haplotypes of Intercellular Adhesion Molecule-1 in Uterine Cervical Carcinogenesis in Taiwanese Women

[PMID 26550112] Polymorphisms in the intercellular adhesion molecule 1 gene and cancer risk: a meta-analysis

[PMID 26662939] Genotype/allelic combinations as potential predictors of myocardial infarction.