rs16944

Increases susceptibility to mental illness and osteoarthritis.

plus

Geno	Mag	Summary
(A;A)	2	Increased risk (~3x) for osteoarthritis
(A;G)	1.5	Minorly increased risk of mental illness and osteoarthritis
(G;G)	2	Slightly increased (~2x or less) risk for certain mental disorders

Reference

GRCh38 38.1/141

Chromosome

2

Position

112837290

Gene

IL1B

is a	snp
is	mentioned by
dbSNP	rs16944
dbSNP (classic)	rs16944
ClinGen	rs16944
ebi	rs16944
HLI	rs16944
Exac	rs16944
Gnomad	rs16944
Varsome	rs16944
LitVar	rs16944
Map	rs16944
PheGenI	rs16944
Biobank	rs16944
1000 genomes	rs16944
hgdp	rs16944
ensembl	rs16944
geneview	rs16944
scholar	rs16944
google	rs16944
pharmgkb	rs16944
gwascentral	rs16944
openSNP	rs16944
23andMe	rs16944
SNPshot	rs16944
SNPdbe	rs16944
MSV3d	rs16944
GWAS Ctlg	rs16944

GMAF

0.4651

Max Magnitude

2

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 20565898 ] 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 21726461 ] Modulation of cortisol responses to the DEX/CRH test by polymorphisms of the interleukin-1beta gene in healthy adults

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

[PMID 21992747 ] 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 22132000 ] 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 22475653 ] Genetic predictors of fatigue in prostate cancer patients treated with androgen deprivation therapy: Preliminary findings

[PMID 19043479 ] 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-1Î² Gene on Dorsolateral Prefrontal Cortex Function in Schizophrenia: A Genetic Neuroimaging Study

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

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

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

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

[PMID 17355643 ] 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 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 18062835 ] 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 18216863 ] Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.

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

[PMID 18576312 ] A broad analysis of IL1 polymorphism and rheumatoid arthritis.

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

[PMID 18633131 ] 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 18676870 ] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

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

[PMID 18757527 ] 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 18842150 ] 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 19035492 ] Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis.

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

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

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

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

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

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

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

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

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

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

[PMID 19559392 ] A candidate gene association study of 77 polymorphisms in migraine.

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

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

[PMID 19967057 ] 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 20175886 ] 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 20196868 ] 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 20565774 ] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20811626 ] 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 21172166 ] Pharmacogenetics of antidepressant response.

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

[PMID 21448414 ] 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.

[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 23592922 ] 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 24460370 ] Relationship Between IL1 Gene Polymorphisms and Periodontal Disease in Japanese Women

[PMID 22749237 ] 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 23029430 ] 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 23530106 ] 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 25127106 ] Polymorphisms in the TNFA and IL6 Genes Represent Risk Factors for Autoimmune Thyroid Disease

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

[PMID 25221996 ] 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.

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

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

[PMID 29323730] Biochemical and Molecular Study on Interleukin-1β Gene Expression and Relation of Single Nucleotide Polymorphism in Promoter region with Type 2 Diabetes Mellitus.

[PMID 29605608] Genetic variations in key inflammatory cytokines exacerbates the risk of diabetic nephropathy by influencing the gene expression.

[PMID 29719585 ] Interleukin gene polymorphisms in Chinese Han population with breast cancer, a case-control study.

[PMID 29931509 ] Association Between rs3833912/rs16944 SNPs and Risk for Cerebral Palsy in Mexican Children.

[PMID 30275190] IL-8-251T>A (rs4073) Polymorphism Is Associated with Prognosis in Gastric Cancer Patients.

[PMID 31448710] Frequency of Inflammasome Nlrp1/Nlrp3 Gene Receptor Polimorphisms And The Interleukins IL-1ß/IL-18 Gene Polymorphisms And Their Association With Severity Score In Sickle Cell Disease Patients.

[PMID 31863173] Genetic variant rs16944 in IL1B gene is a risk factor for early-onset sepsis susceptibility and outcome in preterm infants.

[PMID 31979384 ] 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 32228128] The modifying effect of nutritional factors on the association between IL1-β single nucleotide polymorphism and serum CXCL10 levels in young Canadian adults.

[PMID 32377159 ] Psychobiotics Regulate the Anxiety Symptoms in Carriers of Allele A of IL-1β Gene: A Randomized, Placebo-Controlled Clinical Trial.

[PMID 32391643] Evaluation of genetic variants in IL-1B and its interaction with the predisposition of osteoporosis in the northwestern Chinese Han population.

[PMID 32421725 ] Association between single nucleotide polymorphisms (SNPs) of IL1, IL12, IL28 and TLR4 and symptoms of congenital cytomegalovirus infection.

[PMID 32602796] Association of Polymorphisms in Cytokine genes with susceptibility to Precancerous Lesions and Cervical Cancer: A systematic review with meta-analysis.

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

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