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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
23andMe allrs1143634
GWAS Ctlgrs1143634
Max Magnitude0
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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.