IL12B

IL12B

A gene on chromosome 5q31.1-q33.1 that encodes interleukin-12B, a cytokine which acts on T and natural killer cells and has a broad array of biological activities; it is expressed by activated macrophages and is an essential inducer of Th1 cell development. IL-12B maintains memory/effector Th1 cells at a level which confers long-term protection against intracellular pathogens. It associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity.

Molecular pathology
IL12B overexpression is found in patients with multiple sclerosis; polymorphism of IL12B is associated with an increased risk of asthma in children.
References in periodicals archive ?
The upper cervical spinal cord area was (55) associated with disability, linear relationship between 9 loci (BATF, CYP27B1, IL12B, NFKB1, IL7, PLEK, EVI5, TAGAP, nrs669607), inverse relationship with 3 loci (TYK2, RGS1, CLEC16A).
IL1B (rs1143634) (2013) (22) IL8/CXCL8 (rs4073) IL12B (rs3212227) TNFA (rs1800629) Rocas et al.
Szaub et al., "Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis," Human Genetics, vol.
Brew, "The relationship between ApoE, TNFA, IL1a, IL1b and IL12b genes and HIV-1-associated dementia," HIV Medicine, vol.
The PPI network consists of 27 upregulated proteins including LCK, CD3G, CD3E, CD3D, IFNG, VAV1, TNF, B2M, CXCR3, CCR5, CCL5, CXCL9, CXCL10, CXCR4, GNG2, IL1B, IL12B, IL2RB, IL2RA, IL2RG, STAT1, CD8A, CD86, PTPRC, PIK2CG, CD44, and HLADPA1 and 1 downregulated protein EGF.
Mendelian Susceptibility to Mycobacterial Diseases MSMD has especially been associated with defects in the IL12B, IL12RB1, IRF8, ISG15, NEMO, IFNGR1, IFNGR2, STAT1, IRF8, and CYBB genes (15-22).
These genes encoded cytokines (CSF3, CSF2, CCL3, TNF, CCR1, IL13, KIT, CCL5, CCL4, IL10, CXCL10, IL12RB2, IFNG, IL1B, IL1A, IL8, MET, CD40, HGF, LEP, CXCL16, CX3CR1, CCR2, PDGFRA, IL12B, IL2), lipid metabolism related genes (CD36, GPX4, LPIN1, LPL, LPB), transcription regulators (BCL3, FOS and NFKBIA), receptors (TNF, IL8, RELA, TLR1, TIRAP, TLR2, NFKBIA, NFKB1, TLR4, CD40, CCL5, CXCL10, FOS, JUN, MAP3K8, IL1B, LBP, IL12B, CD14, SPP1), and others such as SELP, SELL, and SOD1, all play a role in some aspect of the immune response including cytokine activity (IL10, TNF, IL8, and IL1B), cell adhesion (SELL and SELP), immune activation (CD14 and TLR2), acute phase reaction (TNF, IL1B, and SAA3), apoptosis (BCL2, BAX).
In addition to the reported disease-specific loci, UC and CD share some susceptibility genes, such as IR23, IL12B, NKX2-3, and MST1.
Pathogenic genes such as IL23R and IL12B play a crucial role in the intestinal immune system, which may induce the initiation of IBD [14, 15].
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
Genetic disorders associated with inborn errors in IFN-[gamma]-dependent immunity include those which impair production of IFN-[gamma] (IL12B, IL12RB1, IRF8, ISG15, NEMO) and those which impair response to IFN-[gamma] (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) [2].
Methods: Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014.