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From SNPedia

Geno Mag Summary
(C;C) 0 normal
(C;T) complex; see details
(T;T) complex; see details
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs1143634
1000 genomesrs1143634
GWAS Ctlgrs1143634
Max Magnitude0
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

? (C;C) (C;T) (T;T) 28

PubMed [PMID 9771403OA-icon.png]
Affy Probeset SNP_A-8637035
Affy Orientation reverse
On GW 5.0 0
Alleles A/B A/G
Ancestral C
Population Netherlands
Allele T
Case Freq.
Control Freq.
Odds Ratio Het 1.89
Odds Ratio Hom 1.59
Odds Ratio All 1.50
Disease Ulcerative colitis (UC)

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.[[https://www.ncbi.nlm.nih.gov/pubmed/ 18716798?dopt=Abstract 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 11531943OA-icon.png]

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 11531943OA-icon.png]

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 11076651OA-icon.png]

rs1143634 increases susceptibility to Ulcerative colitis 1.89 times for heterozygotes (CT) and 1.59 times for homozygotes (TT) [PMID 9771403OA-icon.png]

[PMID 19684156] Association Between Interleukin 1 Gene Cluster Polymorphisms and Bilateral Distal Interphalangeal Osteoarthritis

[PMID 20031567OA-icon.png] An Evaluation of Candidate Genes of Inflammation and Thrombosis in Relation to the Risk of Venous Thromboembolism: The Women's Genome Health Study

[PMID 20035239] IL1B rs1143634 Polymorphism, Cigarette Smoking, Alcohol Use, and Lung Cancer Risk in a Japanese Population

[PMID 19820020] Association of variation in the interleukin-1 gene family with diabetes and glucose homeostasis

[PMID 20565898OA-icon.png] Association of IL1A and IL1B loci with primary open angle glaucoma

[PMID 20671275] Association of Interleukin-1 beta (IL1B) polymorphisms with Grave's Ophthalmopathy in Taiwan Chinese patients

[PMID 21726461OA-icon.png] Modulation of cortisol responses to the DEX/CRH test by polymorphisms of the interleukin-1beta gene in healthy adults

[PMID 21843369OA-icon.png] Possible association between Interleukin-1beta gene and schizophrenia in a Japanese population

[PMID 21672595] Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis

[PMID 21968104OA-icon.png] The association of genetic variants in interleukin-1 genes with cognition: findings from the cardiovascular health study

[PMID 22285486] Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis

[PMID 22227487] Polymorphisms in inflammasome' genes and susceptibility to HIV-1 infection.

[PMID 22788685] Polymorphisms of pro-inflammatory cytokine genes and the risk for acute suppurative or chronic nonsuppurative apical periodontitis in a Colombian population

[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16508980] Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: an analysis of three Canadian populations.

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

[PMID 16842617OA-icon.png] Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review.

[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

[PMID 17532232] Potential influence of IL1B haplotype and IL1A-IL1B-IL1RN extended haplotype on hand osteoarthritis risk.

[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 17665434OA-icon.png] Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.

[PMID 18216863OA-icon.png] Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.

[PMID 18500540OA-icon.png] Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach.

[PMID 18573495OA-icon.png] IL1B genetic variation and plasma C-reactive protein level among young adults: the CARDIA study.

[PMID 18576312OA-icon.png] A broad analysis of IL1 polymorphism and rheumatoid arthritis.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18633131OA-icon.png] 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.

[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 18715339OA-icon.png] Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.

[PMID 18715757OA-icon.png] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.

[PMID 18757527OA-icon.png] Apoptosis gene polymorphisms, age, smoking and the risk of non-small cell lung cancer.

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

[PMID 18813964OA-icon.png] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

[PMID 18830724OA-icon.png] Assessment of Alzheimer's disease case-control associations using family-based methods.

[PMID 18842150OA-icon.png] 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.

[PMID 19035492OA-icon.png] Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis.

[PMID 19043479OA-icon.png] Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.

[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.

[PMID 19092239OA-icon.png] Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19356949OA-icon.png] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

[PMID 19478423OA-icon.png] Cytokine response to vitamin E supplementation is dependent on pre-supplementation cytokine levels.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 19619703OA-icon.png] Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.

[PMID 19729864OA-icon.png] 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.

[PMID 19911060OA-icon.png] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

[PMID 19934104OA-icon.png] Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.

[PMID 20044070] The interleukin 1 beta (IL1B) gene is associated with failure to achieve remission and impaired emotion processing in major depression.

[PMID 20113413] Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation.

[PMID 20175886OA-icon.png] Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: a novel association with the athlete status.

[PMID 20192980] The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population.

[PMID 20196868OA-icon.png] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

[PMID 20347268] Convergent evidence shows a positive association of interleukin-1 gene complex locus with susceptibility to schizophrenia in the Caucasian population.

[PMID 20353565OA-icon.png] Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.

[PMID 20437198] Three polymorphisms in interleukin-1beta gene and risk for breast cancer: a meta-analysis.

[PMID 20463618OA-icon.png] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.

[PMID 20574532OA-icon.png] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

[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 21172166OA-icon.png] Pharmacogenetics of antidepressant response.

[PMID 21205020] Associations between interleukin-1 (IL-1) gene variations or IL-1 receptor antagonist levels and the development of type 2 diabetes.

[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 22341060] Postorthodontic external root resorption in root-filled teeth is influenced by interleukin-1beta polymorphism.

[PMID 23049925OA-icon.png] IL1 Receptor Antagonist Gene IL1-RN Variable Number of Tandem Repeats Polymorphism and Cancer Risk: A Literature Review and Meta-Analysis

[PMID 23192617] IL-1RN +2018T>C polymorphism is correlated with colorectal cancer

[PMID 23216199] Associations of the interleukin-1 gene locus polymorphisms with risk to hip and knee osteoarthritis: gender and subpopulation differences

[PMID 23713812] Assessment of Interleukin-1 Gene Cluster Polymorphisms in Lone Atrial Fibrillation: New Insight into the Role of Inflammation in Atrial Fibrillation

[PMID 24072654] Influence of interleukin gene polymorphisms on development of acute pancreatitis: a systematic review and meta-analysis

[PMID 24460370OA-icon.png] Relationship Between IL1 Gene Polymorphisms and Periodontal Disease in Japanese Women

[PMID 24477584] Genetic association of IDE, POU2F1, PON1, IL1α and IL1β with type 2 diabetes in Pakistani population

[PMID 22623017] Serotonin transporter-linked polymorphic region (5-HTTLPR) genotype is associated with cortisol responsivity to naloxone challenge.

[PMID 22818022] Polymorphic variations in IL-1beta, IL-6 and IL-10 genes, their circulating serum levels and breast cancer risk in Indian women.

[PMID 22925444] Genetic and immunological markers predict titanium implant failure: a retrospective study.

[PMID 22960943] Influence of polymorphisms and TNF and IL1beta serum concentration on the infliximab response in Crohn's disease and ulcerative colitis.

[PMID 23029430OA-icon.png] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.

[PMID 23459936OA-icon.png] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.

[PMID 23460603OA-icon.png] Polymorphisms of Interleukin-1 Beta and Interleukin-17Alpha Genes Are Associated With Restless Legs Syndrome.

[PMID 23722873] Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus.

[PMID 25758360OA-icon.png] Saving more teeth-a case for personalized care

[PMID 25865535OA-icon.png] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia

[PMID 26391153] Polymorphisms in host immune response associated genes and risk of nasopharyngeal carcinoma development in Portugal

[PMID 26854620] Determination of NLRP3 (rs4612666) and IL-1B (rs1143634) genetic polymorphisms in periodontally diseased and healthy subjects.

[PMID 27602547] Impact of IL1B gene polymorphisms and interleukin 1B levels on susceptibility to spontaneous preterm birth.

[PMID 28268030] Influence of IL1B, IL6 and IL10 gene variants and plasma fatty acid interaction on metabolic syndrome risk in a cross-sectional population-based study.

[PMID 28242442] Genetic biomarkers of posttraumatic epilepsy: A systematic review.

[PMID 28942153] The absence of an association between Interleukin 1β gene polymorphisms and recurrent aphthous stomatitis (RAS).

[PMID 29023524OA-icon.png] Polymorphism IL-1RN rs419598 reduces the susceptibility to generalized periodontitis in a population of European descent.

[PMID 28681202] Genetic variability of interleukin-1 beta as prospective factor from developing post-traumatic stress disorder.

[PMID 29666343] Interleukin gene polymorphisms and susceptibility to HIV-1 infection: a meta-analysis.

[PMID 30142580] Antagonistic effect of IL1 variants in periodontitis and external apical root resorption: Evidence from a literature review.

[PMID 30728751OA-icon.png] Inflammasome Genes' Polymorphisms in Egyptian Chronic Hepatitis C Patients: Influence on Vulnerability to Infection and Response to Treatment.

[PMID 31324923OA-icon.png] Interleukin-1 Genotype in Periodontitis.

[PMID 31979384OA-icon.png] The Association of IL-1 and HRAS Gene Polymorphisms with Breast Cancer Susceptibility in a Jordanian Population of Arab Descent: A Genotype-Phenotype Study.

[PMID 32904982OA-icon.png] Interleukin-1A and interleukin-1B gene polymorphisms in gastroesophageal reflux disease.

[PMID 33330522OA-icon.png] Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels.

[PMID 31992083] IL1β, IL18, NFKB1 and IFNG gene interactions are associated with severity of rheumatoid arthritis: A pilot study.