{{Rsnum
|rsid=1143634
|Gene=IL1B
|Chromosome=2
|position=112832813
|Orientation=minus
|ReferenceAllele=C
|GMAF=0.1455
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IL1B
}}{{CPMC SNP
|link=https://cpmc.coriell.org/v/Report/Periodontitis
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 63.7 | 31.0 | 5.3
| HCB | 97.1 | 2.9 | 0.0
| JPT | 89.3 | 10.7 | 0.0
| YRI | 82.3 | 15.6 | 2.0
| ASW | 78.9 | 21.1 | 0.0
| CHB | 97.1 | 2.9 | 0.0
| CHD | 97.2 | 2.8 | 0.0
| GIH | 70.3 | 21.8 | 7.9
| LWK | 70.9 | 28.2 | 0.9
| MEX | 75.9 | 24.1 | 0.0
| MKK | 67.3 | 27.6 | 5.1
| TSI | 55.9 | 38.2 | 5.9
| HapMapRevision=28
}}
{{Report GE
|PubMed=9771403
|Source=Cytokine DB
|AffyProbeset=SNP_A-8637035
|AffyOrientation=reverse
|AlleleA=A
|AlleleB=G
|onGW5=0
|rsid=1143634
|ancestral=C
|RiskPopulation=Netherlands
|RiskAllele=T
|CaseFreq=
|ControlFreq=
|OddsRatioHet=1.89
|OddsRatioHom=1.59
|OddsRatioAll=1.50
|Disease=Ulcerative colitis
|DiseaseSymbol=UC
|OA=1
}}

[[rs1143634]], also known as +3954, is a SNP in the IL-1 beta [[IL1B]] gene.

A study of 556 adults in the Western Australian coronary heart disease (CHD) population concluded that [[rs1143634]](T;T) homozygotes had larger waist circumference, by 1.8cm on average, compared to major allele (C;C) homozygotes. This association was even more pronounced in patients with higher levels of [[obesity]] or inflammatory markers.{{PMID|
18716798}}

rs1143634 increases susceptibility to [[Alopecia Areata]] 2.67 times for heterozygotes (CT) and 1.13 times for homozygotes (TT) {{PMID|10077728}}

rs1143634 increases susceptibility to Alzheimer's disease 2.33 times for homozygotes (TT) {{PMID|10976648}}

rs1143634 increases susceptibility to Cervical lesions, low-grade squamous intraepithelial lesions 4.29 times for heterozygotes (CT) and 3.57 times for homozygotes (TT) {{PMID|10366460}}

rs1143634 increases susceptibility to Duodenal ulcer 1.14 times for carriers of the T allele {{PMID|11531943|OA=1
}}

rs1143634 increases susceptibility to Inflammatory bowel disease 7.32 times for carriers of the T allele {{PMID|11220627}}

rs1143634 increases susceptibility to Joint destruction in Rheumatoid Arthritis 1.70 times for carriers of the T allele {{PMID|11477478}}

rs1143634 increases susceptibility to Myasthenia gravis 1.29 times for heterozygotes (CT) and 4.63 times for homozygotes (TT) {{PMID|9521608}}

rs1143634 increases susceptibility to Nephropathy in Type I Diabetes 2.03 times for heterozygotes (CT) and 5.01 times for homozygotes (TT) {{PMID|10049523}}

rs1143634 increases susceptibility to Peptic ulcer disease 1.06 times for carriers of the T allele {{PMID|11531943|OA=1
}}

rs1143634 increases susceptibility to Periodontitis 2.85 times for heterozygotes (CT) and 4.89 times for homozygotes (TT) {{PMID|10589805}}

rs1143634 increases susceptibility to Periodontitis 3.33 times for carriers of the T allele {{PMID|9797049}}

rs1143634 increases susceptibility to Survival in pancreatic cancer for carriers of the T allele {{PMID|11076651|OA=1
}}

rs1143634 increases susceptibility to Ulcerative colitis 1.89 times for heterozygotes (CT) and 1.59 times for homozygotes (TT) {{PMID|9771403|OA=1
}}

{{PMID Auto
|PMID=19684156
|Title=Association Between Interleukin 1 Gene Cluster Polymorphisms and Bilateral Distal Interphalangeal Osteoarthritis
}}

{{PharmGKB
|RSID=rs1143634
|Name_s=
|Gene_s=IL1B
|Feature=Exon/Syn
|Evidence=PubMed ID:19431193
|Annotation=This variant in the IL1B gene was associated with lung disease severity categories (P < 0.10) and longitudinal analysis of lung disease severity (P < 0.10) in a study of 808 cystic fibrosis patients, suggesting IL1B may be a clinically relevant modulator of CF lung disease.
|Drugs=
|Drug Classes=
|Diseases=Cystic Fibrosis; Lung Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA164856838
}}
{{PMID Auto
|PMID=20031567
|Title=An Evaluation of Candidate Genes of Inflammation and Thrombosis in Relation to the Risk of Venous Thromboembolism: The Women's Genome Health Study
|OA=1
}}
{{PMID Auto
|PMID=20035239
|Title=IL1B rs1143634 Polymorphism, Cigarette Smoking, Alcohol Use, and Lung Cancer Risk in a Japanese Population
}}
{{PMID Auto
|PMID=19820020
|Title=Association of variation in the interleukin-1 gene family with diabetes and glucose homeostasis
}}

{{PMID Auto
|PMID=20565898
|Title=Association of IL1A and IL1B loci with primary open angle glaucoma
|OA=1
}}
{{PMID Auto
|PMID=20671275
|Title=Association of Interleukin-1 beta (IL1B) polymorphisms with Grave's Ophthalmopathy in Taiwan Chinese patients
}}

{{PMID Auto
|PMID=21726461
|Title=Modulation of cortisol responses to the DEX/CRH test by polymorphisms of the interleukin-1beta gene in healthy adults
|OA=1
}}

{{PMID Auto
|PMID=21843369
|Title=Possible association between Interleukin-1beta gene and schizophrenia in a Japanese population
|OA=1
}}

{{PMID Auto
|PMID=21672595
|Title=Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis
}}

{{PMID Auto
|PMID=21968104
|Title=The association of genetic variants in interleukin-1 genes with cognition: findings from the cardiovascular health study
|OA=1
}}

{{PMID Auto
|PMID=22285486
|Title=Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis
}}

{{PMID Auto
|PMID=22227487
|Title=Polymorphisms in inflammasome' genes and susceptibility to HIV-1 infection.
}}

{{PMID Auto
|PMID=22788685
|Title=Polymorphisms of pro-inflammatory cytokine genes and the risk for acute suppurative or chronic nonsuppurative apical periodontitis in a Colombian population
}}

{{PMID Auto
|PMID=15726497
|Title=Gene-environment interaction effects on the development of immune responses in the 1st year of life.
|OA=1
}}

{{PMID Auto
|PMID=16508980
|Title=Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: an analysis of three Canadian populations.
}}

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

{{PMID Auto
|PMID=16842617
|Title=Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review.
|OA=1
}}

{{PMID Auto
|PMID=17327408
|Title=Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
|OA=1
}}

{{PMID Auto
|PMID=17532232
|Title=Potential influence of IL1B haplotype and IL1A-IL1B-IL1RN extended haplotype on hand osteoarthritis risk.
}}

{{PMID Auto
|PMID=17601350
|Title=A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
|OA=1
}}

{{PMID Auto
|PMID=17665434
|Title=Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
|OA=1
}}

{{PMID Auto
|PMID=18216863
|Title=Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.
|OA=1
}}

{{PMID Auto
|PMID=18500540
|Title=Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach.
|OA=1
}}

{{PMID Auto
|PMID=18573495
|Title=IL1B genetic variation and plasma C-reactive protein level among young adults: the CARDIA study.
|OA=1
}}

{{PMID Auto
|PMID=18576312
|Title=A broad analysis of IL1 polymorphism and rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=18633131
|Title=Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
|OA=1
}}

{{PMID Auto
|PMID=18676870
|Title=Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
|OA=1
}}

{{PMID Auto
|PMID=18715339
|Title=Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.
|OA=1
}}

{{PMID Auto
|PMID=18715757
|Title=Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=18757527
|Title=Apoptosis gene polymorphisms, age, smoking and the risk of non-small cell lung cancer.
|OA=1
}}

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

{{PMID Auto
|PMID=18813964
|Title=Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
|OA=1
}}

{{PMID Auto
|PMID=18830724
|Title=Assessment of Alzheimer's disease case-control associations using family-based methods.
|OA=1
}}

{{PMID Auto
|PMID=18842150
|Title=Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.
|OA=1
}}

{{PMID Auto
|PMID=19035492
|Title=Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis.
|OA=1
}}

{{PMID Auto
|PMID=19043479
|Title=Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.
|OA=1
}}

{{PMID Auto
|PMID=19066394
|Title=Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=19092239
|Title=Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19356949
|Title=Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
|OA=1
}}

{{PMID Auto
|PMID=19468064
|Title=Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
|OA=1
}}

{{PMID Auto
|PMID=19478423
|Title=Cytokine response to vitamin E supplementation is dependent on pre-supplementation cytokine levels.
|OA=1
}}

{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=19619703
|Title=Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.
|OA=1
}}

{{PMID Auto
|PMID=19729864
|Title=Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19911060
|Title=Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
|OA=1
}}

{{PMID Auto
|PMID=19934104
|Title=Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.
|OA=1
}}

{{PMID Auto
|PMID=20044070
|Title=The interleukin 1 beta (IL1B) gene is associated with failure to achieve remission and impaired emotion processing in major depression.
}}

{{PMID Auto
|PMID=20113413
|Title=Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation.
}}

{{PMID Auto
|PMID=20175886
|Title=Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: a novel association with the athlete status.
|OA=1
}}

{{PMID Auto
|PMID=20192980
|Title=The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population.
}}

{{PMID Auto
|PMID=20196868
|Title=Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
|OA=1
}}

{{PMID Auto
|PMID=20347268
|Title=Convergent evidence shows a positive association of interleukin-1 gene complex locus with susceptibility to schizophrenia in the Caucasian population.
}}

{{PMID Auto
|PMID=20353565
|Title=Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.
|OA=1
}}

{{PMID Auto
|PMID=20437198
|Title=Three polymorphisms in interleukin-1beta gene and risk for breast cancer: a meta-analysis.
}}

{{PMID Auto
|PMID=20463618
|Title=Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
|OA=1
}}

{{PMID Auto
|PMID=20574532
|Title=Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=20811626
|Title=Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
|OA=1
}}

{{PMID Auto
|PMID=21146623
|Title=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 Auto
|PMID=21172166
|Title=Pharmacogenetics of antidepressant response.
|OA=1
}}

{{PMID Auto
|PMID=21205020
|Title=Associations between interleukin-1 (IL-1) gene variations or IL-1 receptor antagonist levels and the development of type 2 diabetes.
}}

{{PMID Auto
|PMID=21279638
|Title=Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the Korean population.
}}

{{PMID Auto
|PMID=22035161
|Title=Postorthodontic external root resorption is associated with IL1 receptor antagonist gene variations.
}}

{{PMID Auto
|PMID=22341060
|Title=Postorthodontic external root resorption in root-filled teeth is influenced by interleukin-1beta polymorphism.
}}

{{PMID Auto
|PMID=23049925
|Title=IL1 Receptor Antagonist Gene IL1-RN Variable Number of Tandem Repeats Polymorphism and Cancer Risk: A Literature Review and Meta-Analysis
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1143634
|overall_frequency_n=2170
|overall_frequency_d=10758
|overall_frequency=0.20171
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23192617
|Title=IL-1RN +2018T&gt;C polymorphism is correlated with colorectal cancer
}}

{{PMID Auto
|PMID=23216199
|Title=Associations of the interleukin-1 gene locus polymorphisms with risk to hip and knee osteoarthritis: gender and subpopulation differences
}}

{{PMID Auto
|PMID=23713812
|Title=Assessment of Interleukin-1 Gene Cluster Polymorphisms in Lone Atrial Fibrillation: New Insight into the Role of Inflammation in Atrial Fibrillation
}}

{{PMID Auto
|PMID=24072654
|Title=Influence of interleukin gene polymorphisms on development of acute pancreatitis: a systematic review and meta-analysis
}}

{{PMID Auto
|PMID=24460370
|Title=Relationship Between IL1 Gene Polymorphisms and Periodontal Disease in Japanese Women
}}

{{PMID Auto
|PMID=24477584
|Title=Genetic association of IDE, POU2F1, PON1, IL1α and IL1β with type 2 diabetes in Pakistani population
}}

{{PMID Auto
|PMID=22623017
|Title=Serotonin transporter-linked polymorphic region (5-HTTLPR) genotype is associated with cortisol responsivity to naloxone challenge.
}}

{{PMID Auto
|PMID=22818022
|Title=Polymorphic variations in IL-1beta, IL-6 and IL-10 genes, their circulating serum levels and breast cancer risk in Indian women.
}}

{{PMID Auto
|PMID=22925444
|Title=Genetic and immunological markers predict titanium implant failure: a retrospective study.
}}

{{PMID Auto
|PMID=22960943
|Title=Influence of polymorphisms and TNF and IL1beta serum concentration on the infliximab response in Crohn's disease and ulcerative colitis.
}}

{{PMID Auto
|PMID=23029430
|Title=Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.
|OA=1
}}

{{PMID Auto
|PMID=23459936
|Title=Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=23460603
|Title=Polymorphisms of Interleukin-1 Beta and Interleukin-17Alpha Genes Are Associated With Restless Legs Syndrome.
}}

{{PMID Auto
|PMID=23722873
|Title=Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}