Custom Inflammatory Bowel Disease Panel

Custom Inflammatory Bowel Disease Panel

What is inflammatory bowel disease?

Inflammatory bowel disease (IBD) is a general term for both Crohn's disease and ulcerative colitis. It is a type of disease of chronic inflammation occurs in the gastrointestinal tract, and prolonged inflammation can cause damage to the gastrointestinal tract. In recent decades, the incidence of IBD has increased rapidly, and it’s estimated that 5 million people live with IBD in the world. Inflammatory bowel disease is a primary immunodeficiency disease caused by incompatibility or innate immune response or intestinal mucosal barrier defects in the human intestinal flora. It can cause the body to produce loose stools, diarrhea, severe colitis with deep ulcers and granulomas, weight loss and related growth restriction, and may even cause perianal disease, dermatological abnormalities, autoimmunity and increase the risk of some tumors. The prevalence of inflammatory bowel disease caused by mutations in the genes of IL10, IL10RA, IL10RB and FOXP3 is 100% or almost 100%, while pathogenic variants in XIAP such as any of the CGD genes and MVK show incomplete penetrance of inflammatory bowel disease.

Disease-related gene description

IL10 acts as a key cytokine molecule that regulates intestinal mucosal homeostasis. Mutations in IL10 are associated with the risk of developing IBD. IL10 and its receptors co-regulate intestinal mucosal immune responses in vivo and mutations in the IL-10 receptor subunit proteins IL10RA and IL10RB are associated with IBD. It's reported that some structural changes in IL10RA may interfere with its binding affinity to IL10, thereby inhibiting IL10-induced IL10RA phosphorylation, ultimately impairing STAT3 activation and inhibiting inflammatory responses. CD4+ CD25+T regulatory cells (Tregs) have the effect of maintaining self-tolerance and preventing autoimmune diseases. IL-10 signaling in monocyte-derived dendritic cells regulates IFNγ secretion by CD4+ T cells. Lack of IL-10 signaling significantly increases IL-1β release from monocyte-derived dendritic cell(moDC), while IL-1β directly or indirectly enhances IFNγ secretion from CD4+ T cells by stimulating moDCs to secrete IL-12. FOXP3 is a member of the transcription factor expressed by CD4+CD25+T cells and is a symbol of transcriptional activity expression. Mutations in the FOXP3 gene can cause IBD. XIAP plays an important role in the key pathways of susceptibility to intestinal immunity and IBD, and it has a transduction effect in the nucleotide binding and oligomerization domain (NOD)-2 pathway. XIAP is linked to RIP2 by interaction with the NOD2 receptor, which causes Lys63-linked RIP2 polyubiquitination and is capable of recruiting LUBAC. The recruitment of LUBAC can trigger the production of ubiquitination in the body. Ubiquitination reaction leads to an increase in the production of cytokines, chemokines and antimicrobial peptides required for intestinal immunity, leading to the IBD.

To provide comprehensive consequences of these mutations of IL10, FOXP3 and other related genes, our platform offers the target DNA sequencing service and a custom inflammatory bowel disease panel, which can help researchers better understand the pathogenesis of IBD.

Custom inflammatory bowel disease panel offers but are not limited to:

  • In order to protect the privacy of our customers, we will not publish the experimental data to others.
  • Our platform has advanced experimental testing equipment and a group of high-tech personnel to ensure the sustainable development of the platform.
  • Based on validation experiment results, our platform can achieve >99% analytical sensitivity and specificity of the genetic testing.
  • The acquisition of experimental samples is simple and fast, and there is no time or space limitation.
  • To achieve the transparency of our custom panel, our platform sets up real-time tracking of sample results, which can query the progress of the experiment.
  • To better fulfill your testing requirements, you can choose our panel directly or redesign a panel that meets your testing requirements.

Select the genes that fit you from the inflammatory bowel disease gene list

ADA ADAM17 AICDA BTK CD3G
CD40LG CTLA4 CYBA CYBB DCLRE1C
DKC1 DOCK8 FOXP3 G6PC3 ICOS
IL10 IL10RA IL10RB IL21 IL2RA
IL2RG ITGB2 LIG4 LRBA MEFV
MVK NCF2 NCF4 NFAT5 NLRC4
PIK3CD PIK3R1 PLCG2 RAG1 RAG2
RTEL1 SH2D1A SLC37A4 STAT1 STAT3
STIM1 STXBP2 TTC7A WAS XIAP
ZAP70

Specimen requirements of our custom inflammatory bowel disease panel

  • Specimen: whole blood, DNA or saliva.
  • Volume: 3 mL whole blood, 0.75 mL saliva or min. 8 µg of DNA.
  • Collection: blood is collected by routine blood collection and sent in EDTA purple-top or pink-top tubes. Saliva is collected and stored in the provided container. DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Inflammatory Bowel Disease Panel or need other amplification requirements, please contact us.

References:

  1. Boks M A, et al. IL-10/IFNγ co-expressing CD4+ T cells induced by IL-10 DC display a regulatory gene profile and downmodulate T cell responses. Clinical Immunology, 2016, 162:91-99.
  2. Al-Abbasi F A, et al. Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD). Frontiers in Genetics, 2018, 9:146-.
  3. Cuifang Z, et al. Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study. Inflammatory Bowel Diseases, 2018.
  4. Guidi L, et al. FOXP3+ T Regulatory Cell Modifications in Inflammatory Bowel Disease Patients Treated with Anti-TNFα Agents. BioMed Research International, 2013, 2013(5):286368.
  5. Nielsen O H, Lacasse E C. How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease. Genetics in Medicine, 2016.
* For Research Use Only. Not for use in diagnostic procedures.

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