rs419598
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.29x lower risk for periodontitis | |
| (C;T) | 0.29x lower risk for periodontitis | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 113129630 |
| Gene | IL1RN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs419598 |
| dbSNP (classic) | rs419598 |
| ClinGen | rs419598 |
| ebi | rs419598 |
| HLI | rs419598 |
| Exac | rs419598 |
| Gnomad | rs419598 |
| Varsome | rs419598 |
| LitVar | rs419598 |
| Map | rs419598 |
| PheGenI | rs419598 |
| Biobank | rs419598 |
| 1000 genomes | rs419598 |
| hgdp | rs419598 |
| ensembl | rs419598 |
| geneview | rs419598 |
| scholar | rs419598 |
| rs419598 | |
| pharmgkb | rs419598 |
| gwascentral | rs419598 |
| openSNP | rs419598 |
| 23andMe | rs419598 |
| SNPshot | rs419598 |
| SNPdbe | rs419598 |
| MSV3d | rs419598 |
| GWAS Ctlg | rs419598 |
| GMAF | 0.1846 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
May modulate other variations. Also known as the +2018T/C SNP.
In a study of 113 Japanese patients with chronic periodontitis (CP), individuals with the rs419598(C) allele are at 0.29x lower CP risk (p = 0.016).[PMID 18321309]
IL1B -511 allele heterozygotes have a 4 fold higher chance of surviving bacterial meningitis than (either) homozygote [PMID 11023482]. SO what's this have to do with rs419598? Odds of surviving meningitis apparently further increase 2X for IL1B -511 heterozygotes who are also rs419598(T;T), i.e. homozygous for IL1RN +2018 rs419598 (T) allele (the most common one; also known as "+8006").
[PMID 19733643] Interleukin-1 region meta-analysis with osteoarthritis phenotypes
[PMID 19290009] Variants of the interleukin-1 receptor antagonist gene are associated with fat mass in men
[PMID 20709104] Interleukin 1 receptor antagonist polymorphisms are associated with the risk of developing acute coronary syndrome in Mexicans
[PMID 19934104
] Radiographic severity of knee osteoarthritis is conditional on Interleukin 1 Receptor Antagonist gene variations
[PMID 22322675] IL1RN genetic variations and risk of IPF: a meta-analysis and mRNA expression study.
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 16842617] Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review.
[PMID 17176440] The different expression patterns of interleukin-1 receptor antagonist in systemic lupus erythematosus.
[PMID 17665434] Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 18063673] Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis.
[PMID 18615156] Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
[PMID 19043479] Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
[PMID 20975573] Interleukin 1 beta (IL-1B) and IL-1 antagonist receptor (IL-1RN) gene polymorphisms are associated with the genetic susceptibility and steroid dependence in patients with ulcerative colitis.
[PMID 21146623] Large-scale meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis and severity of knee osteoarthritis.
[PMID 21279638] Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the Korean population.
[PMID 22035161] Postorthodontic external root resorption is associated with IL1 receptor antagonist gene variations.
[PMID 23192617] IL-1RN +2018T>C polymorphism is correlated with colorectal cancer
[PMID 23212299] Interleukin 1 receptor antagonist (IL1RN) genetic variations condition post-orthodontic external root resorption in endodontically-treated teeth
[PMID 23765978] Association between IL-1RN gene polymorphisms and susceptibility to ankylosing spondylitis: a large Human Genome Epidemiology review and meta-analysis
[PMID 23602982] IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort
[PMID 22925444] Genetic and immunological markers predict titanium implant failure: a retrospective study.
[PMID 23459936] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
[PMID 24008079] Cytokine gene polymorphisms and progression-free survival in classical Hodgkin lymphoma by EBV status: results from two independent cohorts
[PMID 25865535] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia
[PMID 25398456] IL1B and DEFB1 Polymorphisms Increase Susceptibility to Invasive Mold Infection After Solid-Organ Transplantation
[PMID 26391153] Polymorphisms in host immune response associated genes and risk of nasopharyngeal carcinoma development in Portugal
[PMID 27476361] Genetic and clinical risk factors of root resorption associated with orthodontic treatment.
| ClinVar | |
|---|---|
| Risk | Rs419598(C;C) |
| Alt | Rs419598(C;C) |
| Reference | Rs419598(T;T) |
| Significance | Non-pathogenic |
| Disease | Interleukin 1 receptor antagonist deficiency not specified |
| Variation | info |
| Gene | IL1RN |
| CLNDBN | Interleukin 1 receptor antagonist deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.113887207T>C |
| CLNSRC | |
| CLNACC | RCV000389038.1, RCV000455594.1, |
[PMID 29023524] Polymorphism IL-1RN rs419598 reduces the susceptibility to generalized periodontitis in a population of European descent.
[PMID 32671985] Inherited variant in NFκB-1 promoter is associated with increased risk of IBD in an Algerian population and modulates SOX9 binding.
[PMID 33466672] Polymorphisms of Encoding Genes IL1RN and P2RX7 in Apical Root Resorption in Patients after Orthodontic Treatment.
