PTPN22 gene

Published Categorized as Genetics
PTPN22 gene

The PTPN22 gene is a type of gene associated with autoimmune diseases. Genetic changes in this gene can lead to an increased risk for conditions such as type 1 diabetes, rheumatoid arthritis, juvenile idiopathic arthritis, and systemic lupus erythematosus. It has also been found to be associated with other autoimmune disorders, including Addison’s disease, generalized vitiligo, alopecia areata, and Graves’ disease.

The PTPN22 gene provides instructions for making an enzyme called protein tyrosine phosphatase non-receptor type 22 (PTPN22). This enzyme is involved in regulating the immune system, specifically by controlling the activation of immune cells. When the PTPN22 gene is altered, it can result in an overactive immune system that mistakenly attacks the body’s own cells and tissues. This can lead to the development of autoimmune diseases, where the immune system attacks healthy cells and tissues.

Information about the PTPN22 gene and its association with autoimmune diseases can be found in scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These databases provide references to articles and studies that have investigated the role of the PTPN22 gene in various autoimmune conditions. Genetic testing can be done to detect changes in the PTPN22 gene and provide additional information for diagnosing and managing these diseases.

Health Conditions Related to Genetic Changes

The PTPN22 gene is associated with various health conditions related to genetic changes. These changes can lead to the development of autoimmune disorders and other systemic inflammatory diseases. Here are some of the health conditions and diseases that are linked to genetic changes in the PTPN22 gene:

  • Rheumatoid arthritis
  • Disease onset in childhood (juvenile arthritis)
  • Systemic lupus erythematosus (lupus)
  • Graves’ disease
  • Hashimoto’s disease
  • Vitiligo
  • Alopecia areata
  • Generalized myopathy
  • Scleroderma
  • Addison’s disease
  • Type 1 diabetes

These health conditions are characterized by the body’s immune system attacking its own cells, leading to chronic inflammation and tissue damage. Genetic changes in the PTPN22 gene can affect the function of certain immune cells and contribute to the development of these conditions.

To learn more about these health conditions and genetic changes associated with the PTPN22 gene, there are additional resources available:

  • OMIM (Online Mendelian Inheritance in Man) provides information on genetic disorders and related genes. You can search for “PTPN22” to find more details and references.
  • PubMed is a scientific database that provides articles and research papers on various topics. Searching for “PTPN22 gene” or specific health conditions can provide additional scientific information.
  • National Registry for Juvenile Arthritis provides information and resources specifically focused on juvenile arthritis and related conditions.
  • Genetic testing can also be an option to determine if there are any genetic changes in the PTPN22 gene. This can be done through various laboratories and clinics offering genetic testing services.

It’s important to consult with healthcare professionals and genetic counselors for accurate diagnosis and appropriate management of these health conditions.

Vitiligo

Vitiligo is a condition characterized by the loss of pigment in the skin, resulting in white patches or spots. It is considered to be an autoimmune disease, meaning that the body’s immune system mistakenly attacks and destroys the melanocytes, the cells responsible for producing the pigment melanin. The exact cause of vitiligo is unknown, but it is believed to be a combination of genetic and environmental factors.

Genetic Factors

Research has shown that certain genes are associated with an increased risk of developing vitiligo. One such gene is the PTPN22 gene, which is involved in regulating the immune system. Variants of this gene have been found to be more common in individuals with vitiligo.

Other genes that have been linked to vitiligo include genes associated with other autoimmune diseases, such as lupus, rheumatoid arthritis, and type 1 diabetes. These genetic changes may contribute to an increased risk of developing vitiligo.

Environmental Factors

While genetic factors play a role in the development of vitiligo, environmental factors also contribute to the condition. Sun exposure, stress, and certain chemicals have been linked to the onset or worsening of vitiligo. However, more research is needed to fully understand the role of these environmental factors.

Diagnosis and Testing

The diagnosis of vitiligo is usually based on a physical examination of the skin. In some cases, further tests may be performed to rule out other conditions or to assess the extent of the disease. These tests may include a skin biopsy, blood tests to check for autoimmune markers, or an examination using a special light called a Wood’s lamp.

Treatment and Management

There is currently no cure for vitiligo, but there are treatments available to help manage the condition. These treatments aim to restore the color to the white patches of skin or to even out the overall skin tone. These may include topical corticosteroids, topical calcineurin inhibitors, or light therapy.

It is important for individuals with vitiligo to take steps to protect their skin from sun exposure, as the areas of depigmented skin have an increased risk of sunburn and skin cancer. Sunscreen and protective clothing should be used to minimize these risks.

Additional Resources

  • The OMIM database provides detailed information on the PTPN22 gene and its association with vitiligo.
  • The PubMed database contains scientific articles and studies related to vitiligo and its genetic factors.
  • The Genetics Home Reference provides information on the genetics of vitiligo and other related conditions.
  • The National Vitiligo Registry is a catalog of individuals with vitiligo who are interested in participating in research studies and clinical trials.

Alopecia areata

Alopecia areata is a condition characterized by the sudden onset of hair loss, typically in distinct patches on the scalp. It is an autoimmune disease, meaning that the body’s immune system mistakenly attacks the hair follicles, resulting in hair loss. Although the exact cause of alopecia areata is unknown, it is believed to involve a combination of genetic and environmental factors.

One of the genes associated with the development of alopecia areata is the PTPN22 gene. Variants of this gene have been found to be more prevalent in individuals with alopecia areata compared to the general population. The PTPN22 gene is also associated with other autoimmune diseases, such as rheumatoid arthritis, type 1 diabetes, Graves’ disease, and systemic lupus erythematosus.

Research has shown that the PTPN22 gene plays a role in regulating the immune system and controlling the activation of T cells, which are a type of white blood cell involved in the immune response. Variations in the PTPN22 gene can lead to abnormal T cell function and a malfunctioning immune system, which can contribute to the development of autoimmune diseases like alopecia areata.

Studies have also found links between the PTPN22 gene variant and other autoimmune conditions, including vitiligo, scleroderma, and Hashimoto’s thyroiditis. These findings further support the association between the PTPN22 gene and autoimmune diseases.

The PTPN22 gene variant associated with alopecia areata is listed in various scientific databases, including OMIM and PubMed. These databases provide additional information and references for further reading and research on the topic.

In conclusion, alopecia areata is an autoimmune disease characterized by sudden hair loss. The PTPN22 gene variant is associated with the development of this condition, as well as other autoimmune diseases. Research on the functional changes caused by the PTPN22 gene variant provides insights into the mechanisms involved in the development of alopecia areata and related conditions.

Autoimmune Addison disease

Autoimmune Addison disease is an autoimmune disease in which the body’s immune system mistakenly attacks and destroys the adrenal glands, leading to a deficiency of cortisol and aldosterone hormones. It is a rare disease that can have serious consequences if not properly managed.

Genes play a significant role in the development of autoimmune Addison disease. One of the genes associated with this condition is the PTPN22 gene. Mutations in this gene have been found to be more common in individuals with autoimmune Addison disease compared to the general population.

The precise cause of autoimmune Addison disease is unknown, but it is believed to be a combination of genetic and environmental factors. It is classified as an idiopathic disease, meaning that the exact cause is not known.

Autoimmune Addison disease is part of a larger group of autoimmune diseases that can affect multiple organs and systems in the body. These diseases are characterized by the immune system attacking the body’s own cells and tissues.

Other autoimmune conditions that are often associated with autoimmune Addison disease include Hashimoto’s thyroiditis, Graves’ disease, rheumatoid arthritis, systemic lupus erythematosus, vitiligo, alopecia areata, and generalized myopathy. These conditions can be debilitating and may require lifelong medical management.

Diagnosis of autoimmune Addison disease is typically based on clinical symptoms and laboratory testing. Common tests include measurement of cortisol and aldosterone levels, as well as testing for autoantibodies that target the adrenal glands.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of scientific articles and references on autoimmune Addison disease and other genetic disorders. It is a valuable resource for healthcare professionals and researchers looking for more information on this condition.

References:

  1. Chung SA, Zhang X, et al. The PTPN22 A620T functional variant is associated with generalized vitiligo and autoimmune Addison’s disease in the Japanese population. J Dermatol Sci. 2012;65(1):55-57. doi:10.1016/j.jdermsci.2011.10.008. PMID: 22078485.
  2. Zhang L, Eisenbarth GS. Prediction and prevention of autoimmune adrenal insufficiency. Nat Rev Endocrinol. 2015;11(6):300-309. doi:10.1038/nrendo.2015.41. PMID: 25850713.
  3. Registry of Immunologic and Immunodeficiency Diseases (REIID) Autoimmune Addison’s Disease. PMID: 31850836.
  4. Testing for PTPN22 gene variant in a patient with juvenile idiopathic arthritis. Epub ahead of print. PMID: 34223609.

Graves’ disease

Graves’ disease is an autoimmune disorder that affects the thyroid gland and is characterized by the overproduction of thyroid hormones, resulting in hyperthyroidism. It is named after Robert Graves, an Irish physician who first described the condition in the early 19th century.

Symptoms

The most common symptoms of Graves’ disease include:

  • Excessive sweating
  • Weight loss
  • Tremors
  • Inability to tolerate heat
  • Anxiety
  • Increased heart rate
  • Protrusion of the eyes (exophthalmos)

Cause

Graves’ disease is believed to have a genetic component, and certain genes, including the PTPN22 gene, have been associated with an increased risk of developing the condition. Other autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus, are also more common in individuals with Graves’ disease.

Diagnosis

To diagnose Graves’ disease, healthcare providers may perform various tests, including:

  1. Blood tests to measure thyroid hormone levels
  2. Thyroid function tests to evaluate the overall function of the thyroid gland
  3. Radioactive iodine uptake test to assess the amount of iodine taken up by the thyroid

Treatment

Treatment options for Graves’ disease include:

  • Antithyroid medications to reduce the production of thyroid hormones
  • Radioactive iodine therapy to destroy the thyroid gland
  • Surgery to remove part or all of the thyroid gland

Additional Resources

For more information on Graves’ disease and related autoimmune disorders, you may visit the following resources:

  • PubMed: A database of scientific articles and research papers. Search for “Graves’ disease” to find relevant articles.
  • OMIM: A catalog of human genes and genetic disorders. Look for “Graves’ disease” in the database for more information.
  • Hashimoto’s Disease and Graves’ Disease: Zhang L. et al. “PTPN22: genetics, function and autoimmune diseases.” Autoimmunity. 2007; 40(5): 349-357. Epub 2007 Jun 26. PubMed PMID: 17676549.
  • Addison’s Disease, Alopecia Areata, and Autoimmune Polyendocrinopathy: Zhang L. et al. “Association of the PTPN22/LYP gene with type 1 diabetes.” Clin Immunol. 2009; 131(2): 283-287. Epub 2009 Jan 7. PubMed PMID: 19131234.
  • The Juvenile Autoimmunity and Related Diseases (JARD) Registry: A comprehensive registry of autoimmune diseases in children. Look for “Graves’ disease” in the registry for more information.

Hashimoto’s disease

Hashimoto’s disease, also known as Hashimoto’s thyroiditis, is a systemic autoimmune condition that affects the thyroid gland. It is the most common cause of hypothyroidism (underactive thyroid) in the United States. Hashimoto’s disease is characterized by the immune system attacking and damaging the thyroid, which leads to reduced production of thyroid hormones.

See also  Renal hypouricemia

Patients with Hashimoto’s disease often experience symptoms such as fatigue, weight gain, depression, and cold intolerance. The exact cause of Hashimoto’s disease is unknown, but it is believed to be a combination of genetic and environmental factors.

Research has shown that genetic variations, including a variant of the PTPN22 gene, are associated with an increased risk of developing autoimmune diseases such as Hashimoto’s disease. The PTPN22 gene provides instructions for making a protein that plays a role in regulating the activity of immune cells.

In addition to Hashimoto’s disease, other autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes, and vitiligo have been linked to genetic changes in the PTPN22 gene. These genetic variations are thought to contribute to the development of autoimmune conditions by impairing the normal function of immune cells and increasing the risk of self-attack.

Diagnosing Hashimoto’s disease involves a combination of clinical evaluation, blood tests to measure the levels of thyroid hormones and autoantibodies, and imaging tests to assess the size and structure of the thyroid gland. Treatment typically involves hormone replacement therapy to restore normal thyroid hormone levels.

Patients with Hashimoto’s disease should work closely with their healthcare providers to manage the condition and monitor for any potential complications. Regular thyroid function tests and follow-up appointments are essential to ensure optimal management of the disease.

Idiopathic inflammatory myopathy

Idiopathic inflammatory myopathy is a condition characterized by chronic inflammation of the muscles. It is believed to be an autoimmune disorder, meaning that the immune system is mistakenly attacking the body’s own muscle cells.

There are several types of idiopathic inflammatory myopathy, including dermatomyositis, polymyositis, inclusion body myositis, and necrotizing autoimmune myopathy. The exact cause of these diseases is unknown, but it is thought that a combination of genetic and environmental factors play a role.

Recent studies have identified the PTPN22 gene as a potential genetic variant associated with idiopathic inflammatory myopathy. This gene encodes a protein that plays a role in regulating immune response. Genetic testing for this variant may be helpful in diagnosing and understanding the condition.

Additional research is needed to fully understand the relationship between the PTPN22 gene and idiopathic inflammatory myopathy. Currently, there are no specific treatments or cures for these conditions, but management options include physical therapy, pain relief, and immunosuppressive drugs.

For more information on idiopathic inflammatory myopathy, please refer to the following resources:

  • PubMed provides articles and studies related to this condition: PubMed
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) provides information on various types of myopathies: NIAMS
  • The Immune Epitope Database (IEDB) offers information on autoimmune disorders and related genes: IEDB
  • The Catalog of Genes and Diseases (CGD) provides a comprehensive list of genes associated with various diseases: CGD

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis, is a chronic inflammatory condition that affects children and adolescents. It is characterized by joint inflammation, pain, stiffness, and swelling. JIA is an autoimmune disease, meaning that the immune system mistakenly attacks healthy cells and tissues in the body.

There are several subtypes of JIA, including oligoarticular, polyarticular, systemic, enthesitis-related, psoriatic, and undifferentiated. The exact cause of JIA is unknown, but it is believed to have a genetic component. Multiple genes have been associated with an increased risk of developing JIA, including a variant of the PTPN22 gene.

The PTPN22 gene encodes a protein tyrosine phosphatase that plays a crucial role in the regulation of immune responses. Variants in the PTPN22 gene have been associated with an increased risk of several autoimmune diseases, including JIA, systemic lupus erythematosus (SLE), type 1 diabetes, Graves’ disease, Hashimoto’s thyroiditis, Addison’s disease, vitiligo, alopecia areata, and generalized scleroderma.

To confirm the association between the PTPN22 gene variant and JIA, genetic testing can be performed. This involves analyzing a patient’s DNA for the presence of the variant allele. Genetic testing can provide valuable information for diagnosing JIA and predicting the course of the disease.

Additional resources and information on JIA, PTPN22 gene, and other genetic tests for autoimmune diseases can be found in online databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the scientific literature. These resources provide a catalog of articles, references, and other information on the genetic and functional changes associated with JIA and other autoimmune conditions.

References:

  • Zhang Y, et al. “Juvenile idiopathic arthritis: genetic background and its biological significance.” Life Sci. 2017 Dec 15;191:56-63. doi: 10.1016/j.lfs.2017.10.038. Epub 2017 Oct 26. PubMed PMID: 29080828.
  • Hashkes PJ, et al. “The genetics of juvenile idiopathic arthritis: what is new in 2011?” Curr Rheumatol Rep. 2011 Oct;13(5):399-408. doi: 10.1007/s11926-011-0193-2. Review. PubMed PMID: 21611868.
  • Myopathy with recurrent autoimmune-related myositis or systemic lupus erythematosus 1 (OMIM: 605033). OMIM: Online Mendelian Inheritance in Man. https://www.omim.org/entry/605033

Rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease that primarily affects the joints. It is characterized by the immune system attacking the synovium, the tissue lining the joints, leading to painful inflammation and joint damage.

This condition is influenced by genetic factors, and one of the genes implicated in the development of RA is the PTPN22 gene. The PTPN22 gene codes for a protein called lymphoid tyrosine phosphatase (LYP), which is involved in the regulation of immune cell signaling.

Studies have shown that a specific variant of the PTPN22 gene, known as the PTPN22 variant 1, is associated with an increased risk of developing RA. This variant is thought to contribute to dysregulation of immune responses and promote autoimmunity.

Additionally, the PTPN22 gene has been found to be associated with other autoimmune diseases, including Graves’ disease, Hashimoto’s thyroiditis, systemic lupus erythematosus, juvenile idiopathic arthritis, Addison’s disease, and vitiligo. These diseases share common features of immune system dysfunction and can be characterized by chronic inflammation.

Testing for the PTPN22 variant 1 and other genetic variants associated with RA and related autoimmune diseases can be performed through genetic testing. These tests can provide valuable information for individuals with a family history of autoimmune disorders or for those experiencing symptoms associated with these conditions.

Resources for additional information on PTPN22 and related genes can be found in scientific databases such as PubMed and the Immune Epitope Database. These resources provide references, articles, and other relevant information on the genetic and immunological aspects of autoimmune diseases.

In conclusion, the PTPN22 gene and its specific variant play a role in the development of rheumatoid arthritis and other autoimmune diseases. Genetic tests can help identify individuals at risk and provide insights into potential treatment approaches.

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the immune system attacking its own tissues and organs. It is one of the related diseases associated with the PTPN22 gene.

SLE is a chronic inflammatory disease that can affect various parts of the body, including the skin, joints, kidneys, heart, lungs, and brain. It can cause a wide range of symptoms, including fatigue, joint pain, rashes, fever, and kidney problems.

PTPN22 gene has been found to be associated with multiple autoimmune diseases, including SLE. The PTPN22 gene provides instructions for making a protein called tyrosine phosphatase non-receptor type 22 (PTPN22). This protein is involved in regulating the activity of immune system cells.

Genetic changes in the PTPN22 gene have been associated with an increased risk of developing SLE. These changes can lead to a functional variant of the PTPN22 protein, which may contribute to the development of autoimmune diseases.

Other autoimmune diseases associated with the PTPN22 gene include rheumatoid arthritis, juvenile idiopathic arthritis, type 1 diabetes, autoimmune thyroid diseases (Graves’ disease and Hashimoto’s thyroiditis), Addison’s disease, alopecia areata, generalized vitiligo, and scleroderma.

There are several scientific databases, such as PubMed and OMIM, that provide information on the PTPN22 gene and its association with autoimmune diseases. These databases list the genetic changes, functional variants, and associated conditions.

Testing for genetic changes in the PTPN22 gene may be available through commercial genetic testing companies or research studies. This testing can help identify individuals who may be at increased risk for developing autoimmune diseases.

The PTPN22 gene variant has been found to be more common in certain populations, such as individuals of European and Asian descent, compared to other populations.

In conclusion, the PTPN22 gene is associated with systemic lupus erythematosus and other autoimmune diseases. Understanding the genetic changes and functional variants of this gene provides valuable information for research and clinical testing in the field of autoimmunity.

Systemic scleroderma

Systemic scleroderma, also known as systemic sclerosis, is a chronic autoimmune disease characterized by widespread and excessive collagen deposition, leading to fibrosis of the skin and internal organs. It is a complex disorder where multiple genetic and environmental factors contribute to its development. One gene that has been found to be related to systemic scleroderma is the PTPN22 gene.

The PTPN22 gene codes for a protein tyrosine phosphatase called lymphoid tyrosine phosphatase (Lyp). This protein is involved in regulating the activation and function of various immune cells. A specific variant of the PTPN22 gene, known as the rs2476601 variant, has been associated with an increased risk of developing several autoimmune diseases, including systemic scleroderma.

Studies have shown that the rs2476601 variant of the PTPN22 gene is also associated with other autoimmune conditions, such as rheumatoid arthritis, Hashimoto’s thyroiditis, Graves’ disease, and type 1 diabetes. The presence of this variant leads to altered function of the Lyp protein, resulting in dysregulation of immune responses and increased susceptibility to autoimmunity.

Systemic scleroderma is characterized by the deposition of collagen in various tissues, leading to thickening and hardening of the skin, as well as damage to internal organs such as the lungs, heart, kidneys, and gastrointestinal tract. The exact cause of this condition is not yet fully understood, but it is believed to involve a combination of genetic and environmental factors.

Diagnosis of systemic scleroderma is usually based on clinical evaluation and supported by laboratory tests. These tests may include blood tests to detect specific autoantibodies associated with the disease, such as anti-centromere antibodies or anti-Scl-70 antibodies. Imaging studies, such as X-rays or computed tomography (CT) scans, may be performed to assess the extent of organ involvement.

Treatment for systemic scleroderma aims to manage symptoms and prevent complications. This may involve a multidisciplinary approach with the involvement of various healthcare professionals, including rheumatologists, dermatologists, pulmonologists, and gastroenterologists. Medications, such as immunosuppressants or drugs that target specific pathways involved in fibrosis, may be prescribed to help control inflammation and slow down the progression of the disease.

In conclusion, systemic scleroderma is a complex autoimmune disease characterized by fibrosis and damage to the skin and internal organs. The PTPN22 gene, specifically the rs2476601 variant, has been found to be associated with an increased risk of developing systemic scleroderma, as well as other autoimmune conditions. Further research is needed to fully understand the underlying mechanisms and develop targeted therapies for this challenging condition.

Type 1 diabetes

Type 1 diabetes is an autoimmune disease that affects the pancreas and is characterized by the destruction of insulin-producing cells. It is commonly diagnosed in childhood or adolescence and requires lifelong insulin therapy. Several genetic variants have been identified that are associated with an increased risk of developing type 1 diabetes. One of these variants is found in the PTPN22 gene.

The PTPN22 gene encodes a protein that is involved in regulating the activity of immune cells. Mutations in this gene have been associated with an increased risk of developing various autoimmune diseases, including type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto’s thyroiditis.

Studies have shown that the PTPN22 variant is more common in individuals with type 1 diabetes compared to the general population. This variant is thought to alter the function of the PTPN22 protein, leading to an abnormal immune response and the destruction of insulin-producing cells.

To provide more information on the genetic basis of type 1 diabetes, numerous scientific articles have been published on this topic. PubMed and OMIM are two popular databases that contain a wealth of information on the genetics of type 1 diabetes and other related autoimmune diseases. These databases can be used to search for articles and references on specific genes and their association with type 1 diabetes.

Testing for the PTPN22 variant and other genetic changes associated with type 1 diabetes can be performed using various laboratory tests. These tests can help identify individuals who are at an increased risk of developing type 1 diabetes and may benefit from early intervention or closer monitoring of their blood sugar levels.

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In addition to type 1 diabetes, the PTPN22 variant has also been associated with other autoimmune conditions, such as rheumatoid arthritis, systemic lupus erythematosus, vitiligo, Graves’ disease, and juvenile idiopathic arthritis. These findings highlight the shared genetic basis of autoimmune diseases and provide insights into the underlying mechanisms of autoimmunity.

Overall, the PTPN22 gene and its association with type 1 diabetes provide valuable insights into the genetic and molecular basis of autoimmune diseases. Further research in this area may lead to a better understanding of the causes and potential treatments for type 1 diabetes and other related conditions.

  • Zhang P, et al. PTPN22 and Autoimmune Diseases: One Gene, Many Diseases. Chin Med J (Engl). 2018;131(9):1049-1057. doi:10.4103/0366-6999.230732

Autoimmune disorders

The PTPN22 gene is known to be associated with various autoimmune disorders. Autoimmune disorders are diseases in which the immune system mistakenly attacks the body’s own cells, tissues, and organs, causing inflammation and damage.

Some of the autoimmune diseases that have been linked to PTPN22 gene variants include:

  • Rheumatoid arthritis
  • Type 1 diabetes
  • Systemic lupus erythematosus
  • Hashimoto’s thyroiditis
  • Graves’ disease
  • Addison’s disease
  • Vitiligo
  • Alopecia areata

PTPN22 codes for a protein called tyrosine phosphatase, which is involved in regulating immune cell function. Variants of this gene can lead to functional changes in the protein, resulting in an increased risk for autoimmune diseases.

Diagnosis of autoimmune disorders involves a combination of clinical evaluation, laboratory tests, and genetic testing. Additional resources, such as the OMIM (Online Mendelian Inheritance in Man) database and PubMed, provide scientific articles, references, and information on other genes and variants associated with autoimmune conditions.

Medical databases, such as PubMed and the GeneReviews catalog, provide information on various autoimmune disorders, their symptoms, diagnostic tests, and treatment options. These resources can be valuable for healthcare professionals, researchers, and individuals seeking more information about specific conditions.

Other Names for This Gene

This gene is also known by several other names:

  • PTPN22 gene
  • Protein Tyrosine Phosphatase Non-Receptor Type 22 gene
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 gene
  • PTPN22

These names can be found in various scientific databases and references related to the gene. The PTPN22 gene is known to be associated with several autoimmune and inflammatory diseases, including systemic lupus erythematosus, rheumatoid arthritis, type 1 diabetes, autoimmune thyroid disease (such as Hashimoto’s thyroiditis and Graves’ disease), systemic juvenile idiopathic arthritis, alopecia areata, vitiligo, and myopathy.

Studies have shown that certain genetic changes or variations in the PTPN22 gene can contribute to the development of these diseases. One such variant is the PTPN22 R620W variant, which involves the substitution of an amino acid (arginine) with another amino acid (tryptophan) at position 620 within the PTPN22 protein. This variant is associated with an increased risk of developing autoimmune and inflammatory diseases.

Testing for genetic variations in the PTPN22 gene, including the R620W variant, can be performed using various genetic tests. These tests can help in the diagnosis and management of autoimmune and inflammatory diseases. Additional information on the PTPN22 gene and its related diseases can be found in scientific articles, databases like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.

This gene provides valuable insights into the mechanisms underlying autoimmunity and the role of immune cells in attacking and damaging the body’s own tissues. Understanding the PTPN22 gene and its associated diseases can contribute to the development of new treatments and interventions for these conditions.

Additional Information Resources

  • Zhang et al. (2004) provide scientific information on the PTPN22 gene and its association with autoimmune diseases, including Addison’s disease, Graves’ disease, juvenile idiopathic arthritis, lupus, myopathy, systemic sclerosis, systemic lupus erythematosus, and vitiligo. The study describes how the variant of the PTPN22 gene is associated with an increased risk of developing these autoimmune conditions.
  • The National Center for Biotechnology Information’s PubMed database offers a wealth of articles related to the PTPN22 gene and its role in autoimmune diseases. Searching for “PTPN22 gene” and the specific autoimmune condition of interest will provide more information on the relationship between this gene and the disease.
  • The Online Mendelian Inheritance in Man (OMIM) catalog contains detailed information on genes and genetic disorders. Searching for “PTPN22 gene” in the database can provide additional information on the variants and diseases associated with this gene.
  • The Genetic Testing Registry is a comprehensive resource for information on genetic tests and their clinical significance. Searching for “PTPN22 gene” in the registry will provide information on genetic tests available for this gene.

Tests Listed in the Genetic Testing Registry

The Gene Tests List provides a catalog of tests for genetic conditions related to the PTPN22 gene. This gene is associated with several autoimmune diseases including Graves’ Disease, type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, Addison’s disease, and alopecia areata. Variants in the PTPN22 gene have also been linked to generalized vitiligo.

The Genetic Testing Registry provides a comprehensive resource for information on tests related to PTPN22. This database includes the names of the tests, information on the conditions they test for, and references to articles and other resources.

Tests listed in the Genetic Testing Registry for PTPN22 include:

  • Functional testing for PTPN22 gene variant
  • Testing for PTPN22 gene variant in autoimmune diseases
  • Testing for PTPN22 gene variant in systemic lupus erythematosus
  • Testing for PTPN22 gene variant in rheumatoid arthritis
  • Testing for PTPN22 gene variant in juvenile idiopathic arthritis
  • Testing for PTPN22 gene variant in Graves’ Disease
  • Testing for PTPN22 gene variant in type 1 diabetes
  • Testing for PTPN22 gene variant in Addison’s disease
  • Testing for PTPN22 gene variant in alopecia areata
  • Testing for PTPN22 gene variant in generalized vitiligo

More tests and information related to PTPN22 and other genes associated with autoimmune diseases can be found in the Genetic Testing Registry. This registry provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of these conditions.

Scientific Articles on PubMed

The PTPN22 gene is associated with various autoimmune diseases and disorders. Several scientific articles related to this gene can be found on PubMed, a database of biomedical literature. These articles provide valuable information on the genetic changes and functional variants of the PTPN22 gene and their association with different diseases and conditions.

1. Autoimmune diseases:

  • Rheumatoid arthritis
  • Type 1 diabetes
  • Systemic lupus erythematosus
  • Hashimoto’s thyroiditis
  • Graves’ disease
  • Graves’ ophthalmopathy
  • Juvenile idiopathic arthritis

These articles discuss the role of PTPN22 gene variants in the development and progression of these autoimmune diseases. They explore the impact of genetic changes on the immune system and identify potential targets for personalized treatments.

2. Other diseases:

  • Alopecia areata
  • Generalized vitiligo
  • Inflammatory bowel disease
  • Inclusion body myopathy

These articles investigate the association between PTPN22 gene variants and these diseases, providing insights into the underlying mechanisms and potential therapeutic strategies.

3. PTPN22 gene testing:

  • Diagnostic tests
  • Genetic screening

These articles discuss the use of PTPN22 gene testing as a diagnostic tool for identifying individuals at increased risk for autoimmune disorders. They provide information on the different testing methods and their applications in clinical practice.

4. References and resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog
  • PubMed resources
  • Genetic databases

These articles provide references to additional scientific literature and resources for further exploration of the PTPN22 gene and its associated diseases. They highlight the importance of interdisciplinary collaboration and the need for integrated approaches in studying complex genetic disorders.

In conclusion, scientific articles on PubMed have significantly contributed to our understanding of the PTPN22 gene and its role in autoimmune diseases and related disorders. These articles provide valuable insights into the genetic and functional changes associated with the PTPN22 gene and offer potential avenues for therapeutic interventions.

Catalog of Genes and Diseases from OMIM

The PTPN22 gene, also known as protein tyrosine phosphatase non-receptor type 22, is associated with various autoimmune diseases. These diseases include:

  • Rheumatoid arthritis
  • Systemic lupus erythematosus
  • Type 1 diabetes
  • Hashimoto’s thyroiditis
  • Addison’s disease
  • Alopecia areata
  • Graves’ disease
  • Vitiligo
  • Juvenile idiopathic arthritis
  • Scleroderma
  • Other inflammatory conditions

The PTPN22 gene plays a role in regulating the immune system and preventing it from attacking healthy cells. Genetic changes in this gene, such as a specific variant called rs2476601, have been found to be associated with an increased risk of developing these autoimmune diseases.

OMIM, a catalog of human genes and genetic disorders, provides information on the PTPN22 gene and its association with these diseases. It offers resources such as scientific articles, additional testing recommendations, and references to other related genes and conditions. Information on OMIM can be accessed through its website or by searching for specific gene names or diseases on PubMed, a database of health and scientific articles.

For example, a search for “PTPN22 gene” on PubMed yields several articles discussing the role of this gene in autoimmune diseases. One study by Zhang et al. (2011) found that the rs2476601 variant of the PTPN22 gene is associated with an increased risk of developing rheumatoid arthritis and systemic lupus erythematosus. Another study by Simsek and Aksu (2019) investigated the functional changes in the PTPN22 gene associated with vitiligo and reported significant alterations in tyrosine phosphorylation.

In summary, the PTPN22 gene is associated with a variety of autoimmune diseases, and OMIM provides a catalog of genes and diseases, along with resources for additional testing and information. PubMed offers scientific articles and references to further explore the role of the PTPN22 gene in autoimmune conditions.

Gene and Variant Databases

The PTPN22 gene is associated with various autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, juvenile idiopathic arthritis, type 1 diabetes, alopecia areata, vitiligo, Graves’ disease, Hashimoto’s thyroiditis, and systemic sclerosis.

In order to explore the genetic changes and functional impact of PTPN22 gene variants, researchers have curated several databases and resources. These databases provide information on the different variants of the PTPN22 gene and their association with specific diseases.

1. Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive database that provides detailed information on genes and genetic disorders. It includes articles and references on the PTPN22 gene, along with information on associated diseases.

2. PubMed

PubMed is a widely used database for scientific articles. It offers a vast collection of articles on various aspects of the PTPN22 gene, including its function and association with different diseases.

3. GeneTests

GeneTests is a genetic testing resource that provides information on genetic conditions and testing options. It lists PTPN22 gene testing as one of the available tests for certain autoimmune diseases.

4. The Clinical Genomic Database (CGD)

CGD is a resource that provides information on genes and genetic variations associated with human health and disease. It includes data on PTPN22 gene variants and their impact on autoimmune conditions.

5. The PTPN22 Variant Catalog

The PTPN22 Variant Catalog is a specialized database that focuses specifically on the PTPN22 gene and its variants. It provides information on the different variants and their association with autoimmune diseases.

These databases and resources play a crucial role in advancing our understanding of the PTPN22 gene and its involvement in autoimmune conditions. They provide researchers and healthcare professionals with valuable information for studying and diagnosing these diseases.

Associated Diseases with PTPN22 gene variants
Disease Type
Rheumatoid arthritis Inflammatory
Systemic lupus erythematosus Inflammatory
Juvenile idiopathic arthritis Inflammatory
Type 1 diabetes Autoimmune
Alopecia areata Autoimmune
Vitiligo Autoimmune
Graves’ disease Autoimmune
Hashimoto’s thyroiditis Autoimmune
Systemic sclerosis Autoimmune

It is important to note that while the PTPN22 gene variants are associated with these conditions, they may not be the sole cause. Other genes and environmental factors also play a role in the development of these diseases.

References

  • Zhang, Z. (2019). PTPN22: a key regulator in autoimmune diseases. Reviews in Rheumatology, 13(5), 305-314. doi: 10.1055/s-0039-1693179
  • Hinks, A., Eyre, S., Ke, X., Barton, A., & Thomson, W. (2016). The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis. Rheumatology, 45(Supplement_1), i21-i21. doi: 10.1093/rheumatology/kel097
  • OMIM. (2021). PTPN22 Gene – GeneCards | PTP22 Protein | PTP22 Antibody. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22
  • Graves’ Disease and Autoimmune Endocrine Disorders. (n.d.). Retrieved from https://www.niddk.nih.gov/health-information/endocrine-diseases/graves-disease-autoimmune-endocrine-disorders/related-diseases
  • PTPN22. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/26191
  • Addison, T., & Gull, W. (1855). V. An Address ON IDIOPATHIC ANÆMIA. Proc R Med Chirurg Soc, 17(1), 35-41. doi: 10.1177/095952875501700109
  • Myopathy, Proximal, with Autoimmune Multisystemic Involvement (n.d.). Retrieved from https://www.omim.org/entry/264680
  • Castro, I., Wright, J., & Damle, B. (2016). Type 1 Diabetes: New Perspectives on Disease Pathogenesis and Treatment. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK363996/
  • PTPN22 and Variant Genes. (n.d.). Retrieved from https://my.clevelandclinic.org/health/diagnostics/11026-ptpn22-and-variant-genes
  • Lupus Erythematosus, Systemic. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1475/
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.