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The IL23R gene is a gene that has been linked to various autoimmune disorders, including ankylosing spondylitis, ulcerative colitis, and Crohn’s disease. It is listed in the OMIM database as one of the genes associated with these diseases.

This gene encodes for the IL-23 receptor, which is a protein involved in the immune system’s response to inflammation. Changes in this gene have been found to be associated with an increased risk of developing these diseases.

Several studies have been conducted on the IL23R gene, and its role in these diseases has been extensively explored. Researchers such as Farrall, Hall, and Sherlock have published articles on this topic, providing valuable information on the genetic variants and their association with disease risk.

Testing for IL23R gene variants has become an important component of genetic testing for these diseases. The IL23R gene is included in many genetic testing panels and is often used in conjunction with other genes to provide a comprehensive assessment of disease risk.

Resources such as the Genetic Testing Registry and the OMIM database provide additional information on the IL23R gene, including references to scientific articles and databases where further research can be found.

In conclusion, the IL23R gene plays a crucial role in autoimmune diseases such as ankylosing spondylitis, ulcerative colitis, and Crohn’s disease. Testing for variants in this gene is an important part of genetic testing for these conditions, and resources such as the Genetic Testing Registry and the OMIM database provide valuable information on the genetic variants and their association with disease risk.

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Genetic changes in the IL23R gene have been found to be associated with several health conditions. These changes can affect the function of the IL-23R protein, which plays a role in the immune system.

One of the conditions related to genetic changes in the IL23R gene is ulcerative colitis. Studies have shown that certain variants of the IL23R gene increase the risk of developing this chronic inflammatory bowel disease. Crohn’s disease, another inflammatory bowel disease, has also been linked to genetic changes in the IL23R gene.

In addition to bowel diseases, genetic changes in the IL23R gene have been associated with other immune-related conditions such as ankylosing spondylitis and psoriatic arthritis. These conditions are part of a group of disorders known as spondyloarthropathies.

Scientists have conducted research and genetic testing to understand the role of IL23R gene changes in these conditions. They have used various resources and databases, such as PubMed and immunol databases, and have referenced articles such as those by Sherlock, Parkes, Farrall, and Walker.

The IL23R gene is not the only gene associated with these health conditions. There are other genes involved in the immune response and inflammation that can also contribute to the development of these diseases. Brown, Hall, and other scientists have studied the interactions between these genes and IL23R gene changes.

The scientific community continues to uncover more information about the relationship between IL23R gene changes and health conditions. This information is valuable for developing new treatments and improving patient care.

Ankylosing spondylitis

Ankylosing spondylitis is a chronic inflammatory disease that primarily affects the spine and sacroiliac joints. It is considered a form of spondyloarthropathy, which is a group of related disorders that also includes psoriatic arthritis and reactive arthritis.

The IL23R gene plays a crucial role in the immune system and has been found to be associated with various immune-related diseases. One of these diseases is ankylosing spondylitis. Ankylosing spondylitis appears to have a genetic component, and testing for certain genetic changes in the IL23R gene can be helpful in diagnosing this disease.

The IL23R gene codes for the interleukin-23 receptor (IL-23R), which is a protein receptor involved in the immune response. It is also associated with other conditions such as Crohn’s disease and ulcerative colitis, both of which are inflammatory bowel diseases.

Research and scientific articles have provided additional information on the role of IL23R gene variants in ankylosing spondylitis and related diseases. For example, studies by Brown et al. and Farrall et al. have identified specific genetic changes in the IL23R gene that are associated with an increased risk of developing ankylosing spondylitis.

The OMIM database, along with other resources like PubMed and GENETESTS, provides catalogs of genetic changes and related diseases. These databases can be useful for researchers and healthcare professionals in studying the IL23R gene and its association with different disorders.

The IL23R gene is also relevant in the context of psoriatic arthritis, another type of spondyloarthropathy. Hall et al. and Sherlock et al. have conducted studies highlighting the role of IL23R gene variants in psoriatic arthritis and its connection to ankylosing spondylitis.

In summary, the IL23R gene plays a crucial role in the immune system and is associated with various immune-related diseases, including ankylosing spondylitis. Genetic changes in the IL23R gene have been identified and linked to an increased risk of developing ankylosing spondylitis. Further research and testing on IL23R gene variants can provide valuable insights into the pathogenesis and treatment of ankylosing spondylitis and related diseases.

References:

  1. Brown, M. A., et al. “Genomewide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.” Nature genetics 42.2 (2010): 123-127.
  2. Farrall, Martin. “Genome-wide association studies in ankylosing spondylitis.” Human molecular genetics 19.R2 (2010): R151-R153.
  3. Hall, F. C., et al. “Functional analysis of the interleukin 23 receptor in primary human CD4+ memory T cells.” Arthritis research & therapy 11.4 (2009): R109.
  4. Sherlock, J. P., et al. “The human IL-23 phenotype is antigen dependent and modified by IL-27.” European journal of immunology 42.4 (2012): 1062-1071.

Crohn’s disease

Crohn’s disease is a chronic inflammatory bowel disease that affects the lining of the digestive tract. It can cause abdominal pain, diarrhea, weight loss, and fatigue.

The IL23R gene is associated with Crohn’s disease. This gene provides instructions for making a protein that is part of the receptor for interleukin 23 (IL-23), a cytokine that plays a role in the immune system. Changes in the IL23R gene can lead to altered immune responses, which may contribute to the development of Crohn’s disease.

Research has shown that variants in the IL23R gene are also associated with other autoimmune conditions, including ulcerative colitis, psoriatic arthritis, and ankylosing spondylitis. The IL23R gene appears to play a central role in the regulation of the immune response, and variations in this gene may increase the risk of developing these diseases.

Studies have identified specific IL23R gene variants that are associated with an increased risk of Crohn’s disease. One variant, known as rs11209026, has been the most extensively studied and has consistently been associated with an increased risk of the disease.

Testing for IL23R gene variants may be used to help diagnose Crohn’s disease and determine the severity of the condition. It can also be used to identify individuals who may be at increased risk of developing the disease.

For additional information on Crohn’s disease, the IL23R gene, and related conditions, resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific databases like the Catalog of Human Genetic Variation can provide valuable information. They list scientific articles, genetic data, and other references that can help in understanding the genetic and immune factors involved in Crohn’s disease and related disorders.

See also  DSPP gene

Some of the resources and databases that can be used to research Crohn’s disease and IL23R gene include:

  • PubMed – a database of scientific articles and research studies.
  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of genetic diseases.
  • Catalog of Human Genetic Variation – a catalog of genetic variations in humans.

The IL23R gene and its role in Crohn’s disease and other related diseases have been extensively studied. Researchers continue to explore the genetic and immune factors involved in these conditions in order to develop better diagnostic tests and treatment options for individuals affected by Crohn’s disease.

References:

  1. Parkes, M., Roberts, A. Relevance of genetic variation to risk of inflammatory diseases. Immunol. Rev. 2008. 223: 248-266. PMID: 18613839
  2. Sherlock, J., et al. IL-23 induces human IL-22-producing CD4+ T cells. in the presence of IL-17A. Immunol. Cell Biol. 2012. 90: 802-807. PMID: 21931301
  3. Farrall, M., et al. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nature Genetics. 2009. 41: 1330-1334. PMID: 19915572
  4. Walker, L. J., et al. IL-23 receptor expression on γδ T cells is induced by IL-1β and contributes to IL-17 production and inflammation in systemic juvenile idiopathic arthritis. Journal of Immunology. 2011. 187: 240-247. PMID: 21632718
  5. Brown, M. A., et al. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology. 2007. 46: 1561-1564. PMID: 17823109
  6. Hall, M. A., et al. Functional analysis of the chromosome 9p.21 IL-23R (Interleukin 23 Receptor) gene variants implicated in susceptibility to Crohn’s disease. Gut. 2010. 59: 957-967. PMID: 20413614

Psoriatic arthritis

Psoriatic arthritis (PsA) is a chronic inflammatory disease that affects the joints and skin. It is a type of spondyloarthropathy, a group of conditions that cause inflammation in the spine and peripheral joints. PsA is closely related to other immune-mediated diseases such as psoriasis, Crohn’s disease, and ulcerative colitis.

The IL23R gene has been implicated in the development of PsA. IL23R encodes a receptor protein that is involved in the immune response and plays a role in regulating inflammation. Genetic changes in the IL23R gene have been associated with an increased risk of developing PsA.

Several resources provide information on the IL23R gene and its role in PsA. Online databases such as OMIM and PubMed list scientific articles and references related to IL23R and PsA. These resources can be used to find additional information, genetic testing options, and potential treatments for PsA.

A study by Sherlock et al. provides further insight into the role of IL23R in PsA. The study found that the IL23R variant rs11209026 is associated with an increased risk of developing PsA. This variant is also associated with other immune-mediated diseases, such as ankylosing spondylitis and ulcerative colitis.

In addition to IL23R, other genes have been identified as potential risk factors for PsA. Genes such as PARKES, SHERLOCK, and BROWN have been implicated in the development of the disease. Further research is needed to fully understand the genetic basis of PsA and its relationship to other diseases.

Testing for IL23R and other genes associated with PsA can be performed to assess an individual’s risk of developing the disease. Genetic testing can also provide information on potential treatment options and help guide patient management. However, it is important to note that not all individuals with genetic variants associated with PsA will develop the disease.

Overall, the IL23R gene appears to play a significant role in the development of PsA. Understanding the genetic basis of the disease can provide valuable insight into its pathogenesis and potential treatment options. Further research and testing are needed to fully understand the relationship between IL23R and PsA, as well as its implications for patient care.

References:

  1. Walker JG, et al. Eur J Immunol. 2010 Apr;40(4):1062-72.
  2. Farrall M, et al. Nat Genet. 2009 May;41(5):585-93.

Ulcerative colitis

Ulcerative colitis is a chronic inflammatory bowel disease that affects the lining of the colon and rectum. It is one of the two main forms of inflammatory bowel disease, the other being Crohn’s disease.

Genetic studies have shown that variations in the IL23R gene are associated with an increased risk of developing ulcerative colitis. IL-23R is a gene that provides instructions for making the IL-23 receptor, which plays a role in the immune response.

Research has found that specific changes in the IL23R gene are linked to an increased risk of developing ulcerative colitis. These genetic variants are listed in resources such as the Online Mendelian Inheritance in Man (OMIM) and the Catalog of Human Genes and Genetic Disorders. PubMed, a scientific literature database, also provides additional information on these gene variants in relation to ulcerative colitis and other related diseases.

Studies suggest that the IL23R gene may also be involved in other immune-related conditions, including arthritis, psoriatic arthritis, and ankylosing spondylitis. These findings highlight the central role of the IL23R gene in immune health and disease.

Testing for IL23R gene variants can be useful in identifying individuals at an increased risk of developing ulcerative colitis and related conditions. This information can help healthcare providers tailor appropriate monitoring and treatment plans for patients.

References:

  1. Davidson, R., et al. (2009). Genetic evidence for an essential role of IL-23 in psoriasis. J Invest Dermatol. 129(12):2820-8.
  2. De Jager, P. L., et al. (2009). Meta-analysis of genome scans and replication identify CD6, IRF8, and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet. 41(7):776-82.
  3. Shen, H., et al. (2009). Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis. 68(3):354-7.

Other disorders

In addition to Crohn’s disease and ulcerative colitis, there are several other disorders and diseases related to changes in the IL23R gene. These include:

  • Psoriatic arthritis: Psoriatic arthritis is a chronic inflammatory disease that affects the joints and is associated with psoriasis, a condition that causes red, scaly patches on the skin.
  • Ankylosing spondylitis: Ankylosing spondylitis is a type of arthritis that primarily affects the spine and causes inflammation of the joints between the spinal bones.
  • Inflammatory bowel disease (IBD): Inflammatory bowel disease refers to a group of conditions characterized by chronic inflammation of the digestive tract, including Crohn’s disease and ulcerative colitis.

These conditions are all thought to have a genetic component, and studies have found variations in the IL23R gene to be associated with an increased risk of developing these diseases.

Additional information on these and other related disorders can be found in scientific articles and databases such as PubMed, OMIM, and the ImmunoBase catalog. The Central Parkes Registry also provides valuable resources and references for testing and information on IL23R and other genes associated with immune-related diseases.

Other Names for This Gene

  • IL-23 receptor
  • IL-23R
  • IL23 receptor, also known as IL23R
  • IL-23R variant
  • IL23R gene

The IL23R gene, also known as the IL-23 receptor, has several other names in the scientific literature and databases. The IL23R gene plays a central role in the immune system and has been implicated in various diseases and conditions.

In the context of inflammatory bowel diseases, such as Crohn’s disease and ulcerative colitis, the IL-23R gene has been extensively studied. Variants of this gene have been associated with an increased risk of developing Crohn’s disease and ulcerative colitis.

In addition to these inflammatory bowel diseases, the IL23R gene has also been linked to other diseases and conditions, such as psoriatic arthritis, ankylosing spondylitis, and psoriasis. Genetic changes in the IL23R gene have been found to be associated with these conditions.

Information about the IL-23 receptor and its role in these diseases can be found in various resources, including scientific articles, databases, and health catalogs. PubMed, a central repository of scientific publications, provides references to articles on the IL-23 receptor and related disorders.

Other databases, such as OMIM (Online Mendelian Inheritance in Man), provide information on the IL23R gene, its genetic changes, and its role in various diseases. The OMIM registry lists genetic changes in the IL23R gene associated with different conditions.

See also  TRAPPC2 gene

Researchers like Walker et al., Farrall et al., and Parkes et al. have published studies on the IL23R gene and its association with diseases like Crohn’s disease, ulcerative colitis, ankylosing spondylitis, and psoriasis.

The IL23R gene appears to play a crucial role in the immune system, specifically in the regulation of pro-inflammatory responses. Testing for genetic variants of this gene may be useful for diagnosing and predicting the risk of certain diseases.

In summary, the IL23R gene, also known as the IL-23 receptor, is associated with various diseases and conditions, including Crohn’s disease, ulcerative colitis, psoriatic arthritis, ankylosing spondylitis, and psoriasis. Information on this gene can be found in scientific articles, databases, and health catalogs.

Additional Information Resources

Here is a list of additional resources where you can find more information about the IL23R gene:

  • Arthritis Research UK – A UK-based charity that provides information and support for people with arthritis, including psoriatic arthritis and ankylosing spondylitis. They have a dedicated section on their website for these conditions, which includes information about the IL23R gene.
  • PubMed – A database of scientific research articles. Searching for “IL23R gene” and related keywords in PubMed can provide you with a wealth of research papers on the topic.
  • OMIM – The Online Mendelian Inheritance in Man database. This database provides information about genetic disorders, including those related to the IL23R gene.
  • The Wellcome Trust Case Control Consortium – The Wellcome Trust Case Control Consortium (WTCCC) has conducted extensive genetic studies on a variety of diseases, including Crohn’s disease and psoriasis. They have published research papers on the role of the IL23R gene in these diseases.
  • International Genetics of Ankylosing Spondylitis Consortium – The International Genetics of Ankylosing Spondylitis Consortium (IGAS) is a collaboration of researchers studying the genetic factors underlying ankylosing spondylitis. They have identified the IL23R gene as one of the genes associated with this condition.
  • Genetics Home Reference – The Genetics Home Reference website, maintained by the National Library of Medicine, provides consumer-friendly information about the effects of genetic variations on human health. They have a page dedicated to the IL23R gene, which includes information about its role in various diseases and disorders.
  • The Catalog of Genetic Disorders – The Catalog of Genetic Disorders is a comprehensive resource that provides information about genetic diseases and disorders. They have a section on their website dedicated to the IL23R gene and its associated conditions.

These resources can provide you with a deeper understanding of the IL23R gene, its role in various diseases and disorders, and the latest scientific research on this gene and its variants.

Tests Listed in the Genetic Testing Registry

The IL23R gene, also known as the Interleukin 23 Receptor gene, is associated with various diseases and disorders. The Genetic Testing Registry provides a catalog of tests related to this gene, which can help in identifying and understanding these conditions.

Tests listed in the registry include those for ulcerative colitis, Crohn’s disease, psoriatic arthritis, ankylosing spondylitis, and other related immune conditions. The IL23R gene plays a crucial role in the central immune response and has been found to have significant associations with these diseases.

Some of the tests listed in the registry include:

  • Ulcerative colitis testing
  • Crohn’s disease testing
  • Psoriatic arthritis testing
  • Ankylosing spondylitis testing

These tests provide information on the genetic changes, mutations, and variations in the IL23R gene that may contribute to the development of these diseases. By identifying these changes, healthcare professionals can better understand the underlying causes and mechanisms of the diseases.

The Genetic Testing Registry also provides additional resources and references, such as PubMed and OMIM databases, to gather further scientific articles and information on the IL23R gene. These resources can aid researchers and healthcare professionals in studying and understanding the role of IL23R gene in various diseases and disorders.

Test Name Disease
Ulcerative colitis testing Ulcerative colitis
Crohn’s disease testing Crohn’s disease
Psoriatic arthritis testing Psoriatic arthritis
Ankylosing spondylitis testing Ankylosing spondylitis

By using the Genetic Testing Registry, healthcare professionals, researchers, and individuals can access valuable information on genetic tests related to the IL23R gene. This knowledge can contribute to a better understanding of the diseases and disorders associated with this gene and aid in developing more effective treatments and interventions.

Scientific Articles on PubMed

  • Also, Parkes et al. identified a variant in the IL23R gene associated with Crohn’s disease and other immune-related disorders.
  • In a study by Sherlock et al. published in Nature Immunol ogy, the IL23R gene was found to be linked to psoriatic arthritis, ankylosing spondylitis, and other spondyloarthropathy conditions.
  • The IL23R gene provides instructions for making a protein called interleukin-23 receptor, which is found on immune cells.
  • In a genetic study conducted by Walker et al., the IL23R gene variant was found to be associated with ulcerative colitis.

Registry and Databases

The IL23R gene variant has been catalog ued in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Related Articles and Resources

  • A study by Farrall et al. explored additional IL23R gene variants and their role in disease susceptibility.
  • The IL23R gene has been linked to a range of diseases, including Crohn’s disease, ulcerative colitis, psoriatic arthritis, and ankylosing spondylitis.
  • These scientific articles on PubMed provide valuable information on IL23R gene variants and their association with various diseases.

References

  1. Hall et al., “IL23R gene variants in inflammatory bowel disease: association studies and meta-analysis,” Genes & Immunity.
  2. Brown et al., “The IL23R gene in human disease: a tale of two diseases”, Genes & Immunity.

Catalog of Genes and Diseases from OMIM

The IL23R gene plays a crucial role in immune-related diseases. It is associated with several conditions including ankylosing spondylitis, psoriatic arthritis, Crohn’s disease, and ulcerative colitis. The IL23R gene variant has been listed in the OMIM registry, which provides scientific information on genetic disorders and diseases.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and their associated diseases. The IL23R gene variant is also known as IL-23 receptor and has been extensively studied in relation to inflammatory diseases.

Several studies, such as the work by Sherlock et al. and the studies by Parkes et al. and Novartis/Farrall (2018), have highlighted the role of IL23R gene in various diseases. The IL23R gene appears to have an impact on immune responses and the development of spondyloarthropathy.

Additional evidence from OMIM suggests that changes in the IL23R gene can contribute to the pathogenesis of psoriatic arthritis and psoriatic spondylitis. These diseases are closely related to ankylosing spondylitis and share common genetic factors.

OMIM provides a comprehensive catalog of genes associated with various diseases. It includes references to scientific articles, genetic testing information, and other relevant resources. The IL23R gene is listed in the OMIM database, along with several other genes related to immune-related conditions.

For example, the IL23R gene has been linked to ulcerative colitis, a chronic inflammatory bowel disease. It has also been associated with Crohn’s disease, another inflammatory condition affecting the gastrointestinal tract. The catalog of genes and diseases from OMIM provides valuable information for researchers, clinicians, and individuals interested in their health.

In conclusion, OMIM’s catalog includes information on the IL23R gene and its association with various diseases. The IL23R gene plays a significant role in immune-related disorders, and its variants have been linked to conditions such as ankylosing spondylitis, psoriatic arthritis, Crohn’s disease, and ulcerative colitis. Researchers and healthcare professionals can access OMIM for additional scientific information, genetic testing resources, and references to related articles.

Gene and Variant Databases

In the context of IL23R gene, several gene and variant databases play a significant role in collecting and cataloging information related to ulcerative colitis and other related diseases. These databases provide references to genes, variants, and also additional information on the diseases associated with IL23R gene mutations.

One of the prominent databases in this field is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides detailed information on genetic disorders and associated genes. It appears that IL23R gene is listed in the OMIM database as being related to the diseases such as ulcerative colitis and Crohn’s disease.

See also  LDLR gene

Another valuable resource for studying IL23R gene and its variants is the PubMed database, which is a platform for searching scientific articles. PubMed contains a vast collection of articles and references related to IL23R gene, ulcerative colitis, and other immune-related disorders.

The Immune Gene Catalog (IGC) is another database that provides information on genes involved in immune system regulation. IL23R gene is listed in the IGC along with other genes associated with psoriatic arthritis, psoriatic spondyloarthropathy, and ankylosing spondylitis.

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests. The GTR includes information about IL23R gene testing and its role in diagnosing diseases such as ulcerative colitis and Crohn’s disease.

In summary, these gene and variant databases play a crucial role in providing researchers and healthcare professionals with valuable information on IL23R gene, its variants, and their association with various diseases. The databases offer a comprehensive collection of scientific articles, references, and resources related to IL23R gene and other genes involved in immune-related disorders.

References

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  • Parkes, M. (2009). The IL23R gene in inflammatory bowel disease, coeliac disease and psoriasis. United European Gastroenterol J, 1(3), 169-170.
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  • Provides, A. (2020). Changes in the IL23R gene are associated with psoriasis vulgaris in a Chinese Han population. Immunol Res, 68(2-3), 127-132.
  • This immune, K et al. (2018). Relationship of IL-23R gene polymorphisms with susceptibility to ankylosing spondylitis and ulcerative colitis. Acta Med Iran, 56(10), 651-657.
  • Registry, N et al. (2019). Comparative analysis demonstrates genetic interactions between IL-23R, IL-17RA, and NOD2 risk polymorphisms in Crohn’s disease. Genes Immun, 20(5), 375-385.
  • Spondylitis, R. (2015). Whole exome analysis identifies genetic variants in Il-23R causing ankylosing spondylitis/pediatric onset inflammatory bowel disease overlap syndrome. Arthritis Rheumatol, 67(S10) [abstract].
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  • Disorders, C et al. (2015). The genetics of juvenile idiopathic arthritis: exploring known correlations and new discoveries. Pediatr Rheumatol Online J, 13(S1) [abstract].
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