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Increases susceptibility to mental illness and osteoarthritis.
Geno Mag Summary
(A;A) 2 Increased risk for osteoarthritis
(A;G) 1.5 Minorly increased risk of mental illness and osteoarthritis
(G;G) 2 Increased risk of mental disorders
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs16944
23andMe allrs16944
SNP Nexus

GWAS Ctlgrs16944
Max Magnitude2
rs16944 is a SNP in the interleukin 1, beta gene, a member of the cytokine family involved in the inflammatory response. The rs16944 G;G genotype is associated with risk for multiple mental illnesses. An increased risk for schizophrenia was found in a genetic association study of 2111 Caucasian individuals with an odds ratio of 1.24 (95% CI 1.09, 1.41) [PMID 16905295]. Studies examining the brains of schizophrenic [PMID 22763186] and bipolar [PMID 19125864] individuals found reduced gray matter and hypoactivity associated with the G;G genotype. Additionally, this genotype is associated with impaired ability to achieve remission in a study of 256 Caucasian individuals with depression (odds ratio = 1.74; 95% confidence interval 1.2-4.3)[PMID 20044070].
? (A;A) (A;G) (G;G) 28

The rs16944 A allele increases susceptibility to Osteoarthritis, with 1.80 times for heterozygotes (AG) and 2.90 times for homozygotes (AA) [PMID 15077300]

[PMID 19125864] Gray matter deficits in bipolar disorder rs16944(T;T)


[PMID 19733643] Interleukin-1 region meta-analysis with osteoarthritis phenotypes

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

[PMID 20157068] Association of IL1A, IL1B, and TNF Gene Polymorphisms With Chronic Rhinosinusitis With and Without Nasal Polyposis: A Replication Study

[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 20116409] The association of interleukin-1alpha and interleukin-1beta polymorphisms with the risk of Graves' disease in a case-control study and meta-analysis

[PMID 21523343] IL1B -511(G>A) and IL1RN (VNTR) allelic polymorphisms and susceptibility to knee osteoarthritis in Croatian population

[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 21992747OA-icon.png] Pharmacogenetic analysis of the effects of polymorphisms in APOE, IDE and IL1B on a ketone body based therapeutic on cognition in mild to moderate Alzheimer's disease; a randomized, double-blind, placebo-controlled study

[PMID 22132000OA-icon.png] The IL1B-511 Polymorphism (rs16944 AA Genotype) Is Increased in Aspirin-Exacerbated Respiratory Disease in Mexican Population

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

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

[PMID 22475653OA-icon.png] Genetic predictors of fatigue in prostate cancer patients treated with androgen deprivation therapy: Preliminary findings

[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 22763186] Effect of the Interleukin-1β Gene on Dorsolateral Prefrontal Cortex Function in Schizophrenia: A Genetic Neuroimaging Study

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

[PMID 16617143OA-icon.png] Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data.

[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 16905295] Association study of IL10, IL1beta, and IL1RN and schizophrenia using tag SNPs from a comprehensive database: suggestive association with rs16944 at IL1beta.

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

[PMID 17355643OA-icon.png] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.

[PMID 17510951] Effect of interleukin-1beta gene functional polymorphism on dorsolateral prefrontal cortex activity in schizophrenic patients.

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

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

[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 18062835OA-icon.png] Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases.

[PMID 18063673] Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis.

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

[PMID 18298822OA-icon.png] Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping.

[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 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 18838388] Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis.

[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 19013689] Interleukin-1 beta (C-511T) genetic polymorphism is associated with cognitive performance in elderly males without dementia.

[PMID 19016479] Tagging SNP association study of the IL-1beta gene (IL1B) and childhood-onset mood disorders.

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

[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 19147066OA-icon.png] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.

[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 19347053OA-icon.png] Analysis of inflammation- and atherosclerosis-related gene polymorphisms in branch retinal vein occlusion.

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

[PMID 19390575OA-icon.png] Lung cancer susceptibility model based on age, family history and genetic variants.

[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 19822020OA-icon.png] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.

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

[PMID 19967057OA-icon.png] Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population.

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

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

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[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 20934174] Association of IL1 gene polymorphisms with chronic periodontitis in Brazilians.

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

[PMID 21385326] Association of interleukin-1 gene polymorphisms with sudden sensorineural hearing loss and Meniere's disease.

[PMID 21448414OA-icon.png] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.

[PMID 21496483] Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway.

[PMID 21621860] Association of IL1A, IL1B, ILRN, IL6, IL10 and TNF-alpha polymorphisms with risk and clinical course of multiple sclerosis in a Polish population.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.53125

[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 23592922OA-icon.png] Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population

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

[PMID 23726808] Interleukin 1B rs16944 G>A polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population

[PMID 22850906] Genetic factors regulating inflammation and DNA methylation associated with prostate cancer

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

[PMID 24322806] Relationship Between IL1β-511C>T and ILRN VNTR Polymorphisms and Keratoconus

[PMID 24357513] The variant interleukin 1f7 rs3811047 G>A was associated with a decreased risk of gastric cardiac adenocarcinoma in a Chinese Han population

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

[PMID 22749237OA-icon.png] Tumor necrosis factor -308 polymorphism (rs1800629) is associated with mortality and ventilator duration in 1057 Caucasian patients.

[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 22858724] IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.

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

[PMID 23294973] Association of TNF-alpha polymorphism rs1800629 with multisomatoform disorder in a group of German patients and healthy controls: an explorative study.

[PMID 23530106OA-icon.png] Cytokine genetic variations and fatigue among patients with breast cancer.

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

[PMID 25127106OA-icon.png] Polymorphisms in the TNFA and IL6 Genes Represent Risk Factors for Autoimmune Thyroid Disease

[PMID 25222025OA-icon.png] Interleukin-1β-31C/T and -511T/C Polymorphisms Were Associated with Preeclampsia in Chinese Han Population

[PMID 25221996OA-icon.png] Association of Neuropeptide Y (NPY), Interleukin-1B (IL1B) Genetic Variants and Correlation of IL1B Transcript Levels with Vitiligo Susceptibility

[PMID 25304949] Role of Genetic Polymorphisms in NFKB-Mediated Inflammatory Pathways in Response to Primary Chemoradiation Therapy for Rectal Cancer

[PMID 25374200] Genetic Polymorphism of Interleukin-1A (IL-1A), IL-1B, and IL-1 Receptor Antagonist (IL-1RN) and Prostate Cancer Risk

[PMID 25735143] [Combinations of cytokine gene network polymorphic markers as potential predictors of myocardial infarction]

[PMID 25945941] Polymorphisms of inflammatory markers and risk of essential hypertension in Tatars from Russia

[PMID 25398456] IL1B and DEFB1 Polymorphisms Increase Susceptibility to Invasive Mold Infection After Solid-Organ Transplantation

[PMID 26141218] IL1B gene polymorphisms, age and the risk of non-small cell lung cancer in a Chinese population

[PMID 26200829] Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population

[PMID 25893807] Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele (rs16944) of IL-1β -511 is associated with development of cervical carcinoma

[PMID 26813132] [Association of single nucleotide polymorphisms of IL-6 gene with longevity in Uyghurs in Xinjiang].

[PMID 26663052] [Influence of interleukin-1 beta gene polymorphism and childhood maltreatment on antidepressant treatment].

[PMID 27461004] Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease.

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