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From SNPedia

Geno Mag Summary
(A;A) 1.5 1.43x increased risk of developing psoriasis and psoriatic arthritis
(A;C) 2 Significantly increased risk of developing cervical cancer
(C;C) 2 Significantly increased risk of developing cervical cancer
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs3212227
1000 genomesrs3212227
GWAS Ctlgrs3212227
Max Magnitude2
? (A;A) (A;C) (C;C) 28

IL12B gene SNP, part of a haplotype with rs6887695 associated with psoriasis.[PMID 18219280OA-icon.png]

A study of 500+ patients with psoriatic arthritis (PsA) concluded that the odds ratio for rs3212227(A;A) carriers was 1.43 (CI: 1.17-1.76). The effect sizes observed in patients with PsA appear to be smaller than those previously reported in patients with psoriasis, suggesting that both loci are primarily associated with psoriasis susceptibility rather than primarily with psoriatic arthritis.[PMID 19035472OA-icon.png]

[PMID 19118071] rs568408 GA/AA and rs3212227 AC/CC variant genotypes were associated with a significantly increased risk of cervical cancer [adjusted odds ratio, 1.43; 95% confidence interval (CI), 1.06-1.93; and adjusted odds ratio, 1.30; 95% CI, 0.97-1.75, respectively]. subjects carrying variant genotypes of both loci had a 1.82-fold (95% CI, 1.28-2.57) increased risk of cervical cancer

[PMID 19956104OA-icon.png] Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium

[PMID 19705136OA-icon.png] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics

[PMID 20387064OA-icon.png] Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults

[PMID 21339808OA-icon.png] Interleukin 12B (IL12B) Genetic Variation and Pulmonary Tuberculosis: A Study of Cohorts from The Gambia, Guinea-Bissau, United States and Argentina


[PMID 21513752] Association of single nucleotide polymorphisms in interleukin 12 (IL-12A and -B) with asthma in a Chinese population

[PMID 22011063] Gene-Gene Interactions Between Interleukin-12A and Interleukin-12B with the Risk of Brain Tumor

[PMID 22045842] Association of IL-12B Genetic Polymorphism with the Susceptibility and Disease Severity of Ankylosing Spondylitis

[PMID 22581790OA-icon.png] Effect of IL12A and IL12B polymorphisms on the risk of Chlamydia trachomatis-induced tubal factor infertility and disease severity

[PMID 22702905] Single Nucleotide Polymorphism in the Interleukin 12B Gene is Associated With Risk for Breast Cancer Development

[PMID 22734699OA-icon.png] Association Between Single-Nucleotide Polymorphisms in Interleukin-12A and Risk of Chronic Obstructive Pulmonary Disease

[PMID 22739501] Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes

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

[PMID 16449530OA-icon.png] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.

[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

[PMID 16759385OA-icon.png] Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA).

[PMID 17236132OA-icon.png] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.

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

[PMID 17587057] Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

[PMID 17901940] Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.

[PMID 18045485OA-icon.png] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.

[PMID 18369459OA-icon.png] A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

[PMID 18383521] IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction.

[PMID 18609743OA-icon.png] Genetics of psoriasis and psoriatic arthritis: update and future direction.

[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 18800148] Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.

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

[PMID 19182814OA-icon.png] New insights into the pathogenesis and genetics of psoriatic arthritis.

[PMID 19230157OA-icon.png] Immunogenetics of seasonal influenza vaccine response.

[PMID 19235914OA-icon.png] Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.

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

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20350312OA-icon.png] Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.

[PMID 20521253] IL12 polymorphisms, HBV infection and risk of hepatocellular carcinoma in a high-risk Chinese population.

[PMID 20525402OA-icon.png] Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.

[PMID 20544370] Association of genetic polymorphisms in the IL12-IFNG pathway with susceptibility to and prognosis of pulmonary tuberculosis in a Chinese population.

[PMID 20606885OA-icon.png] Genetics of psoriasis and psoriatic arthritis.

[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 20818961] Inflammatory mediators gene polymorphisms in preeclampsia.

[PMID 21198744] The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype.

[PMID 21875636OA-icon.png] Associations between single nucleotide polymorphisms and haplotypes in cytokine and cytokine receptor genes and immunity to measles vaccination.

[PMID 22372709] Cytokine gene polymorphisms in the susceptibility to acute coronary syndrome.

[PMID 22515181] Interleukin-12: clinical usage and molecular markers of cancer susceptibility.

[PMID 22614250] Contribution of IL12A and IL12B Polymorphisms to the Risk of Cervical Cancer.

[PMID 23578145] Levels of interleukin-(IL)-12p40 are markedly increased in brucellosis among patients with specific IL-12B genotypes

[PMID 23886125] Interleukin 10 rs1800872 T>G Polymorphism was Associated with an Increased Risk of Esophageal Cancer in a Chinese Population

[PMID 24140476] Genetic variations in IL6 and IL12B decreasing the risk for psoriasis

[PMID 23297015] Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis

[PMID 22740240] Associations between polymorphisms in IL-12A, IL-12B, IL-12Rbeta1, IL-27 gene and serum levels of IL-12p40, IL-27p28 with esophageal cancer.

[PMID 22897389OA-icon.png] Interactions between adiposity and genetic polymorphisms on the risk of psoriasis.

[PMID 22940148] Functional polymorphisms in the interleukin-12 gene contribute to cancer risk: evidence from a meta-analysis of 18 case-control studies.

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

[PMID 23065198] Interleukin-12B rs3212227 polymorphism and cancer risk: a meta-analysis.

[PMID 23065210] Interactions of interleukin-12A and interleukin-12B polymorphisms on the risk of intracranial aneurysm.

[PMID 23071570OA-icon.png] Gene-gene interaction and functional impact of polymorphisms on innate immune genes in controlling Plasmodium falciparum blood infection level.

[PMID 23600862] Interleukin-12B gene polymorphism frequencies in Egyptians and sex-related susceptibility to hepatitis C infection.

[PMID 24859272OA-icon.png] Genetic Variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's Disease and VKH Syndrome

[PMID 24957500] Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus

[PMID 25037175] Association of IL-12A and IL-12B polymorphisms with Alzheimer's disease susceptibility in a Han Chinese population

[PMID 25292079] Interleukin-12 and interleukin-6 gene polymorphisms and risk of bladder cancer in the Iranian population

[PMID 25447399] The 3'UTR 1188A/C polymorphism of IL-12p40 is not associated with susceptibility for developing plaque psoriasis in Mestizo population in western Mexico

[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 26104769] Interaction analysis of IL-12A and IL-12B polymorphisms with the risk of colorectal cancer

[PMID 26375522] Association between polymorphisms of interleukin 12 and rheumatoid arthritis associated biomarkers in a Chinese population

[PMID 26047319OA-icon.png] Variation in genes involved in the immune response and prostate cancer risk in the placebo arm of the Prostate Cancer Prevention Trial

[PMID 26631030] Genetic variants in IL12 influence both hepatitis B virus clearance and HBV-related hepatocellular carcinoma development in a Chinese male population.

[PMID 26667837OA-icon.png] Polymorphisms in host immunity modulating genes and risk of invasive aspergillosis: Results from the aspBIOmics consortium.

[PMID 26915668] Relationship between the IL12B (rs3212227) gene polymorphism and susceptibility to multiple autoimmune diseases: a meta-analysis.

[PMID 27073425OA-icon.png] Candidate gene polymorphisms and risk of psoriasis: A pilot study

Risk Rs3212227(C;C)
Alt Rs3212227(C;C)
Reference Rs3212227(A;A)
Significance Non-pathogenic
Disease Familial Atypical Mycobacteriosis
Variation info
Gene IL12B
CLNDBN Familial Atypical Mycobacteriosis, Autosomal Recessive
Reversed 1
HGVS NC_000005.9:g.158742950T>G
CLNACC RCV000307367.1,

[PMID 28980933] Predictive role of cytokines IL-10, IL-12 and TNF-α gene polymorphisms for the development of osteonecrosis of the femoral head in the Chinese Han population.

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

[PMID 29754746] rs3212227 SNP in the IL12B Gene Prevents Delayed Graft Function after Kidney Transplantation.

[PMID 30069682] Association of interleukin 6, interleukin 7 receptor alpha, and interleukin 12B gene polymorphisms with multiple sclerosis.

[PMID 31114439OA-icon.png] Ankylosing spondylitis: analysis of gene-gene interactions between IL-12β, JAK2, and STAT3 in Han Chinese and Algerian cohorts.

[PMID 32352966OA-icon.png] Interaction between host genes and Mycobacterium tuberculosis lineage can affect tuberculosis severity: evidence for coevolution?

[PMID 32421725OA-icon.png] 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 32973967OA-icon.png] SNPs in the interleukin-12 signaling pathway are associated with breast cancer risk in Puerto Rican women.

[PMID 33390082] The Polymorphisms of Interleukin-12B Gene and Susceptibility to Inflammatory Bowel Diseases: A Meta-analysis and Trial Sequential Analysis.