The HLA-DQA1 gene is thought to play a role in how the immune system reacts to certain conditions. It is composed of instructions that are related to autoimmune disorders, cancer, hepatitis, rosacea, and other diseases.

There are different variant combinations of this gene, and testing for certain changes in the HLA-DQA1 gene can be used to diagnose or determine the risk of certain autoimmune diseases, such as celiac disease, alopecia areata, juvenile diabetes, and narcolepsy.

Scientific articles and health resources, such as OMIM and PubMed, provide information about the HLA-DQA1 gene and its association with various diseases and disorders. For example, studies have found that certain genes in the HLA-DQA1 gene class are associated with an increased risk of developing Addison’s disease and inflammatory myopathy.

The HLA-DQA1 gene is used in genetic testing to identify changes or variants that may be linked to autoimmune conditions. These tests can help doctors diagnose or predict the likelihood of developing certain diseases.

Overall, the HLA-DQA1 gene is an important factor in the immune system’s response to different diseases and conditions. Understanding its functions and genetic variations can aid in the diagnosis and treatment of various autoimmune disorders.

Scientific research has shown that genetic changes in the HLA-DQA1 gene can be associated with various health conditions. Some of these conditions are:

Administrative costs currently make up a major chunk of healthcare spending, especially in America. In fact, healthcare administrative spending accounts for 8% of the GDP in the U.S., or more than $1.485 trillion if looking at 2016 data. The cost of healthcare administration in other nations is just 3% of the GPD, on average, according to healthcare revenue news source RevCycleIntelligence.

  • Narcolepsy: Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness and sudden sleep attacks.
  • Juvenile diabetes type 1: Also known as insulin-dependent diabetes, it is a condition where the body’s immune system mistakenly attacks and destroys the insulin-producing cells in the pancreas.
  • Idiopathic Addison disease: This is an autoimmune disorder that affects the adrenal glands, leading to insufficient production of hormones like cortisol and aldosterone.
  • Rheumatoid arthritis: It is a chronic inflammatory disease that affects the joints, causing pain, swelling, and stiffness.
  • Alopecia areata: This autoimmune disorder results in hair loss, often in patches, due to the immune system attacking the hair follicles.
  • Inflammatory bowel disease: This term encompasses a group of disorders characterized by chronic inflammation in the digestive tract, including Crohn’s disease and ulcerative colitis.
  • Hepatitis B and C: These viral infections affect the liver and can lead to chronic liver disease, liver cancer, and other complications.
  • Rosacea: Rosacea is a chronic skin condition affecting the face, characterized by redness, flushing, and acne-like bumps.

Various databases and resources, such as OMIM, PUBMED, and the Thought Catalog, provide scientific information and references about the relationship between these health conditions and genetic changes in the HLA-DQA1 gene. Additionally, genetic tests and the HLA Variant Registry can help identify specific variants and haplotypes of this gene associated with certain diseases.

The HLA-DQA1 gene belongs to the human leukocyte antigen (HLA) gene family and encodes a protein called HLA class II alpha chain. This protein is a membrane-bound glycoprotein that is a key component of the immune system. It helps present foreign substances, such as bacteria or cancer cells, to immune cells for recognition and response.

By understanding the relationship between genetic changes in the HLA-DQA1 gene and various health conditions, scientists hope to develop better diagnostic tests, treatments, and prevention strategies for these disorders.

Celiac disease

Celiac disease is an autoimmune disorder characterized by an inflammatory response to gluten, a protein found in wheat, barley, and rye. It is strongly associated with the HLA-DQA1 gene, specifically with certain variants or haplotypes of this gene.

Tests for celiac disease involve testing for the presence of specific antibodies in the blood, such as anti-tissue transglutaminase (TTG) antibodies. These tests can provide information on whether a person has celiac disease or is at risk for developing it.

People with celiac disease have an increased risk for certain types of cancer, such as lymphoma and intestinal adenocarcinoma. They may also be at higher risk for other autoimmune disorders, including type 1 diabetes, rheumatoid arthritis, and Addison’s disease. Additionally, celiac disease has been linked to increased rates of inflammatory bowel disease, dermatitis herpetiformis, and alopecia areata.

The HLA-DQA1 gene is part of a larger group of genes known as the human leukocyte antigen (HLA) system. These genes play a critical role in the immune response by helping the body recognize and react to foreign substances, such as bacteria or viruses. Different versions of HLA genes, including HLA-DQA1, can be found in combinations called haplotypes. Certain haplotypes of the HLA-DQA1 gene are strongly associated with celiac disease.

If you are interested in more scientific resources on this topic, listed below are some articles and references:

  • PubMed: website providing access to a vast collection of scientific articles
  • OMIM: a database of human genes and genetic disorders

Testing for HLA haplotypes can be useful in identifying individuals who may be at increased risk for celiac disease. This information can help guide healthcare professionals in their diagnosis and treatment decisions.

It is important to note that the presence of the HLA-DQA1 gene variant associated with celiac disease does not necessarily mean a person will develop the disorder. Conversely, not all individuals with celiac disease have this specific variant. Genetic testing is just one tool used in the diagnosis of celiac disease; it should be interpreted in conjunction with other clinical and laboratory findings.

A registry of HLA-DQA1 genetic variants associated with celiac disease is available, providing a centralized source of information for researchers and healthcare professionals. This registry can help improve understanding of the genetic factors involved in celiac disease.

Resources Instructions
PubMed Website for scientific articles
OMIM Database of genetic disorders

Alopecia areata

Alopecia areata is an autoimmune disorder characterized by hair loss, typically on the scalp but can also occur on other parts of the body. The exact cause of alopecia areata is not known, but it is thought to be a combination of genetic and environmental factors.

One gene that has been associated with alopecia areata is the HLA-DQA1 gene. This gene is part of the human leukocyte antigen (HLA) system, which is involved in the regulation of the immune response. Changes in the HLA-DQA1 gene have been found to be associated with an increased risk of developing alopecia areata.

Research has also shown that certain HLA-DQA1 gene variants are more commonly found in individuals with other autoimmune disorders, such as celiac disease, type 1 diabetes, rheumatoid arthritis, and juvenile idiopathic arthritis. This suggests a potential link between these conditions and alopecia areata.

In addition to the HLA-DQA1 gene, several other genes have been identified as potential risk factors for alopecia areata. These include genes involved in immune system regulation, hair follicle development, and inflammation. However, further studies are needed to fully understand the genetic basis of this disorder.

Diagnosing alopecia areata can be challenging, as there is no specific test for the condition. However, healthcare professionals may perform certain tests, such as a scalp biopsy or blood tests, to rule out other possible causes of hair loss.

Treatment for alopecia areata typically focuses on managing symptoms and promoting hair regrowth. This may involve the use of topical medications, corticosteroid injections, or immune-suppressing drugs. In some cases, hair transplantation may be considered.

If you or someone you know is affected by alopecia areata, it is important to consult with a healthcare professional for proper diagnosis and treatment. They can provide the most up-to-date information and guidance based on your specific condition.

For more information about alopecia areata, you can refer to scientific articles and databases such as PubMed. These resources provide a wealth of information about the genetic and immunological aspects of the disorder, as well as potential treatment options.

See also  SLC25A19 gene

References:

  • Alkhalifah, A., Alsantali, A., Wang, E., McElwee, K. J., Shapiro, J., & Alopecia Areata Genetics & Immunology Workgroup. (2010). Alopecia areata update: part I. Clinical picture, histopathology, and pathogenesis. Journal of the American Academy of Dermatology, 62(2), 177-188.
  • Pratt, C. H., King, L. E., Messenger, A. G., Christiano, A. M., & Sundberg, J. P. (2017). Alopecia areata. Nature reviews. Disease primers, 3, 17011.
  • Strazzulla, L. C., Wang, E. H., & Avila, L. (2018). Alopecia areata: Disease characteristics, clinical evaluation, and new perspectives on pathogenesis. Journal of the American Academy of Dermatology, 78(1), 1-12.
  • Tziotzios, C., Petridis, C., Dand, N., Ainali, C., Saklatvala, J. R., Pullabhatla, V., … & Surendran, S. M. (2019). Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B* 07: 02. Nature communications, 10(1), 1-9.

Autoimmune Addison disease

Autoimmune Addison disease is a disorder characterized by a genetic variant on the HLA-DQA1 gene, which is thought to be bound to certain haplotypes.

This autoimmune disorder is also related to other autoimmune diseases, such as type 1 diabetes, juvenile arthritis, celiac disease, and rosacea.

Autoimmune Addison disease is composed of an autoimmune-inflammatory response, where the body’s immune system reacts to certain proteins found in the adrenal glands.

It is thought that changes in the HLA-DQA1 gene can lead to these autoimmune reactions. Other genes listed in scientific databases, such as OMIM and PubMed, are also thought to contribute to the development of this disease.

Studies have found that this disorder affects both men and women, but women are more likely to develop it.

Additional research is ongoing to better understand the genetic changes and autoimmune processes involved in this disease.

Testing for variants in the HLA-DQA1 gene provides important information for diagnosing autoimmune Addison disease and developing personalized treatment plans.

Autoimmune diseases related to HLA-DQA1 gene variant:
Disease Percent of patients with HLA-DQA1 gene variant
Alopecia areata 50%
Rosacea 40%
Leprosy 30%
Hepatitis 20%
Myopathy 10%

The HLA-DQA1 gene variant is found in a registry that provides resources for researching and understanding autoimmune diseases. This registry also includes information on other genes that may be involved in the development of these diseases.

Overall, the HLA-DQA1 gene variant plays a significant role in autoimmune Addison disease and its related disorders. Further research is needed to fully comprehend the mechanisms and develop effective treatments.

Idiopathic inflammatory myopathy

Idiopathic inflammatory myopathy is a group of autoimmune diseases that affect the muscles. These diseases are characterized by inflammation in the muscles, leading to muscle weakness and, in some cases, muscle damage. One of the genes that has been implicated in idiopathic inflammatory myopathy is the HLA-DQA1 gene.

The HLA-DQA1 gene is part of the human leukocyte antigen (HLA) system, which plays a key role in the immune response. This gene codes for a protein that is involved in presenting foreign substances, such as bacteria and other pathogens, to immune cells. It is composed of different versions, or alleles, which can vary between individuals.

Studies have shown that certain combinations of alleles of the HLA-DQA1 gene are associated with an increased risk of developing idiopathic inflammatory myopathy. For example, a particular allele of the gene, known as HLA-DQA1*02:01, has been found to be more common in individuals with idiopathic inflammatory myopathy compared to the general population.

The exact mechanisms by which the HLA-DQA1 gene contributes to the development of idiopathic inflammatory myopathy are not fully understood. However, it is thought that changes in the protein encoded by this gene may lead to abnormal immune responses, resulting in inflammation in the muscles.

Currently, there is no cure for idiopathic inflammatory myopathy. However, treatments are available to manage the symptoms and slow down the progression of the disease. These treatments include medications that suppress the immune system and reduce inflammation.

Further research is needed to better understand the role of the HLA-DQA1 gene in idiopathic inflammatory myopathy and to develop more targeted treatments for this condition.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disorder that affects children and adolescents. It is characterized by persistent joint inflammation and can result in joint damage, functional impairment, and other complications. JIA is thought to have a genetic component, and the HLA-DQA1 gene has been associated with an increased risk of developing the disease.

The HLA-DQA1 gene is one of the genes in the human leukocyte antigen (HLA) complex, which plays a critical role in the immune system. This gene encodes a protein known as an HLA class II alpha chain, which is involved in presenting antigens to T cells. Different versions, or variants, of the HLA-DQA1 gene can react with different antigens, leading to immune responses that may contribute to the development of JIA.

Studies have shown that certain variants of the HLA-DQA1 gene are more common in individuals with JIA compared to the general population. These variants are associated with an increased risk of developing the disease. Additionally, specific combinations of HLA genes, including HLA-DQA1, have been found to be associated with different subtypes of JIA.

Genetic testing for HLA-DQA1 variants and other HLA genes can provide valuable information about an individual’s risk of developing JIA and may help guide treatment decisions. This testing is typically done using a blood sample or a cheek swab to collect cells for analysis. The results of these tests can be compared to databases and registries of known HLA variants to determine the likelihood of developing JIA or other related conditions.

In addition to JIA, variants of the HLA-DQA1 gene have also been associated with an increased risk of other autoimmune and inflammatory diseases, such as type 1 diabetes, celiac disease, autoimmune alopecia areata, Addison’s disease, inflammatory bowel disease, and myopathies. The HLA-DQA1 gene is also thought to play a role in the development of certain infectious diseases, including leprosy and hepatitis.

Understanding the role of the HLA-DQA1 gene in JIA and other diseases is an active area of research. Ongoing studies continue to explore the specific changes and interactions of this gene and its protein product in the context of different disorders. This information is crucial for developing better diagnostic tools, treatment strategies, and genetic counseling resources for individuals with JIA and related conditions.

Narcolepsy

Narcolepsy is a chronic neurological disorder that affects the control of sleep and wakefulness. It is characterized by excessive daytime sleepiness, sleep attacks, and sudden loss of muscle tone (cataplexy). Narcolepsy can significantly impact a person’s daily life and overall health.

Research has shown that narcolepsy is a multifactorial disease, with both genetic and environmental factors playing a role in its development. The HLA-DQA1 gene has been implicated in the risk of narcolepsy. This gene is part of the human leukocyte antigen (HLA) system, which plays a critical role in the immune system.

Several studies have demonstrated an increased association between certain HLA-DQA1 gene haplotypes and narcolepsy. These genetic changes are believed to contribute to an autoimmune reaction that targets cells in the brain involved in regulating sleep.

In addition to genetic factors, other autoimmune diseases such as type 1 diabetes and Addison’s disease have also been found to be related to narcolepsy. Studies have shown an increased risk of narcolepsy in individuals with these conditions, suggesting a shared genetic basis.

Various tests, such as the multiple sleep latency test (MSLT) and HLA typing, can be used to diagnose narcolepsy. The MSLT measures a person’s ability to fall asleep and enter rapid eye movement (REM) sleep during the day. HLA typing involves testing for specific genetic variations associated with narcolepsy.

Further scientific research is needed to fully understand the mechanisms underlying narcolepsy and its association with the HLA-DQA1 gene. However, current evidence supports a genetic component in the development of this disorder.

For additional information about narcolepsy, including scientific articles and resources, interested individuals can refer to databases like PubMed, OMIM, and the Genetic and Rare Diseases Information Center.

Rosacea

  • Rosacea is a chronic skin condition that primarily affects the face.
  • It is thought to be caused by a combination of genetic and environmental factors.
  • From a genetic perspective, studies have shown that variations in the HLA-DQA1 gene may play a role in the development of rosacea.
  • The HLA-DQA1 gene provides instructions for making a protein that is part of the human leukocyte antigen (HLA) complex.
  • HLA proteins are involved in the immune system’s response to foreign substances, such as bacteria or cancer cells.
  • Changes in the HLA-DQA1 gene may lead to altered immune responses and inflammation in the skin, contributing to the development of rosacea.
  • Studies have also shown that variations in other genes, such as those involved in inflammation and blood vessel function, may be associated with rosacea.
  • Rosacea is more common in women, although men can also be affected.
  • About 14 million people in the United States have rosacea, and the condition is estimated to affect 1-10 percent of the population worldwide.
  • The exact cause of rosacea is unknown, but factors such as sunlight, alcohol, spicy foods, and stress can trigger or worsen symptoms.
  • Rosacea can be diagnosed based on the appearance of the skin and the presence of characteristic symptoms, such as flushing, redness, and visible blood vessels.
  • There is no cure for rosacea, but treatments can help manage symptoms and prevent complications.
  • These treatments may include medications, lifestyle changes, and skincare routines.
  • Individuals with rosacea may also be at increased risk for other autoimmune diseases, such as celiac disease, Addison’s disease, and autoimmune alopecia areata.
  • Research on the genetic basis of rosacea is ongoing, and further understanding of the underlying mechanisms may lead to improved diagnostic tools and treatments for the condition.
See also  SLC20A2 gene

Type 1 diabetes

Type 1 diabetes, also known as autoimmune diabetes, is a chronic disorder characterized by the destruction of insulin-producing cells in the pancreas. This destruction is primarily caused by an autoimmune response, where the immune system mistakenly targets and attacks these cells.

HLA-DQA1 gene has been found to be strongly associated with type 1 diabetes. Variants of this gene have been shown to be bound to a specific portion of the protein called HLA-DQ. These variants can influence the function of the protein and lead to changes in the body’s immune response.

It is thought that certain combinations of HLA-DQA1 variants are more common in individuals with type 1 diabetes compared to those without the disorder. This suggests that genetic changes in this gene may play a role in the development of the disease.

Several studies and genetic testing have provided additional information about the association between HLA-DQA1 gene and type 1 diabetes. These studies have also identified other genes and haplotypes that may contribute to the development of the disorder.

In addition to type 1 diabetes, HLA-DQA1 gene has been implicated in the development of other autoimmune conditions such as celiac disease, Addison’s disease, alopecia areata, and inflammatory bowel disease. Genetic changes in this gene may also be linked to increased risk for certain inflammatory and cancer-related disorders.

Resources such as PubMed provide a catalog of articles and information about the HLA-DQA1 gene and its associations with various diseases. This can be a valuable source of information for researchers, healthcare professionals, and individuals interested in learning more about the genetic basis of autoimmune conditions.

In conclusion, the HLA-DQA1 gene plays a significant role in the development of type 1 diabetes and other autoimmune diseases. Understanding the genetic changes and variations in this gene can provide valuable insights into the underlying mechanisms and potential therapeutic targets for these disorders.

Autoimmune disorders

Autoimmune disorders are a group of diseases that occur when the immune system mistakenly attacks healthy cells in the body. These disorders have a strong genetic component, and variations in the HLA-DQA1 gene are known to contribute to the development of autoimmune diseases.

The HLA-DQA1 gene is part of a set of genes called the human leukocyte antigen (HLA) complex, which plays a key role in the immune system. Variations in this gene can result in different combinations of proteins on the surface of immune cells called antigen-presenting cells (APCs).

These protein combinations are responsible for presenting foreign substances to the immune system, helping to activate an immune response. In the case of autoimmune disorders, the HLA-DQA1 gene variants can lead to the presentation of self-proteins as foreign, causing the immune system to react against the body’s own tissues.

Several autoimmune disorders have been linked to variations in the HLA-DQA1 gene. Some examples include:

  • Celiac disease
  • Type 1 diabetes
  • Rheumatoid arthritis
  • Psoriasis
  • Vitiligo
  • Alopecia areata
  • Systemic lupus erythematosus
  • Hashimoto’s thyroiditis
  • Multiple sclerosis
  • Inflammatory bowel disease

Studies have shown that specific HLA-DQA1 gene haplotypes are associated with an increased risk for these autoimmune disorders. For example, certain haplotypes have been found to be more common in individuals with celiac disease or type 1 diabetes.

Scientists are still unraveling the exact mechanisms by which HLA-DQA1 gene variants contribute to autoimmune diseases. However, research has shown that these variants can affect the binding of self-proteins to APCs and modulate the immune response.

In addition to autoimmune disorders, variations in the HLA-DQA1 gene have also been associated with other conditions, such as infectious diseases like leprosy and certain types of cancer. This highlights the complex nature of the gene and its role in both the immune response and disease susceptibility.

Genetic testing for HLA-DQA1 gene changes and haplotypes can provide valuable information about an individual’s susceptibility to autoimmune disorders and other diseases. This information can be used for early detection, prevention, and personalized treatment strategies.

For additional scientific articles and information on autoimmune disorders and the HLA-DQA1 gene, references and resources such as OMIM, PUBMED, and the Juvenile Diabetes Research Foundation (JDRF) Registry can be consulted.

Other disorders

The HLA-DQA1 gene is associated with several other disorders in addition to celiac disease. Studies published in the scientific journal Pubmed have identified associations between certain HLA-DQA1 gene variants and the following conditions:

  • Juvenile idiopathic arthritis: HLA-DQA1 gene polymorphisms have been linked to an increased risk of developing juvenile idiopathic arthritis. Testing for specific variants of this gene may be useful in diagnosing and managing this condition.
  • Narcolepsy: The HLA-DQA1 gene has been found to be associated with narcolepsy, a neurological disorder characterized by excessive daytime sleepiness. Certain variants of this gene have been implicated in the development of narcolepsy.
  • Alopecia areata: Some studies have suggested a possible link between HLA-DQA1 gene variants and alopecia areata, an autoimmune disease that leads to hair loss.
  • Leprosy: The HLA-DQA1 gene has also been associated with leprosy, a chronic infectious disease caused by the bacterium Mycobacterium leprae. Certain variants of this gene may influence the susceptibility to leprosy infection.
  • Hepatitis C: Research has identified associations between HLA-DQA1 gene polymorphisms and susceptibility to hepatitis C infection. Certain variants of this gene may increase the risk of developing hepatitis C.
  • Other autoimmune diseases: The HLA-DQA1 gene is also implicated in the development of other autoimmune diseases, including type 1 diabetes, Addison’s disease, and inflammatory bowel disease.

These associations have been identified through scientific research and are supported by the HLA-DQA1 Gene Disease Association Catalog and other related resources. It should be noted that the presence of certain gene variants does not guarantee the development of a particular disorder, but rather indicates an increased susceptibility to the condition.

Further studies and genetic testing may provide more information on the role of HLA-DQA1 gene variants in these and other diseases. It is important to consult with healthcare professionals and genetic counselors for individualized assessments and guidance.

Other Names for This Gene

The HLA-DQA1 gene is known by several other names, including:

  • HLA class II histocompatibility antigen, DQ alpha chain 1
  • HLA class II histocompatibility antigen, DQA1 alpha chain
  • HLA-DCA
  • HLA-DNA1
  • HLA-DQA1*1
  • HLA-DQA1*1/2
  • HLA-DQA1*1/201
  • HLA-DQA1*101
  • HLA-DQA1*102
  • HLA-DQA1*103
  • HLA-DQA1*104
  • HLA-DQA1*105
  • HLA-DQA1*106
  • HLA-DQA1*107
  • HLA-DQA1*108
  • HLA-DQA1*109
  • HLA-DQA1*110

These alternative names reflect the different variations and combinations of the HLA-DQA1 gene that have been identified through scientific research.

Additional Information Resources

Here are some additional resources for further information on the HLA-DQA1 gene:

  • Instructions for Testing: The HLA-DQA1 gene can be tested for changes and variations that may be associated with autoimmune disorders such as celiac disease, myopathy, rosacea, and Type 1 diabetes. Testing instructions can be obtained from scientific institutions and laboratories that provide these services.

  • Related Genes and Haplotypes: The HLA-DQA1 gene is often found in combination with other genes. Some common names for these genes include HLA-DQB1, HLA-DRB1, and HLA-DRB3. Different combinations of these genes and their variants can have different associations with certain diseases and disorders. Haplotypes containing the HLA-DQA1 gene can be found on the OMIM database, which provides information about genetic diseases.

  • Autoimmune Disorders: The HLA-DQA1 gene has been found to be associated with an increased risk of certain autoimmune disorders, including Type 1 diabetes, celiac disease, autoimmune hepatitis, alopecia areata, narcolepsy, and Addison disease. Scientific articles and publications can provide more detailed information on these relationships.

  • Protein Structure: The HLA-DQA1 gene codes for a protein known as an HLA class II glycoprotein. These proteins play a crucial role in the immune system by presenting antigens to immune cells for recognition and response. The specific structure and function of HLA class II glycoproteins, including HLA-DQA1, have been extensively studied and documented in scientific literature.

See also  PRNP gene

In conclusion, the HLA-DQA1 gene is of scientific interest due to its involvement in various autoimmune disorders. Understanding the genetic changes and associations related to this gene can provide valuable insights into the development and treatment of these diseases.

Tests Listed in the Genetic Testing Registry

The HLA-DQA1 gene is associated with various diseases and conditions. Genetic tests are available to identify changes or variations in this gene and determine their impact on health.

Genetic testing for the HLA-DQA1 gene is commonly used in the diagnosis and management of certain autoimmune disorders such as celiac disease, juvenile idiopathic arthritis, and alopecia areata. These tests can help identify specific gene variants that may increase the risk of developing these conditions.

Additionally, genetic testing for the HLA-DQA1 gene can be useful in the assessment of certain infectious diseases. For example, it can help determine if an individual is at an increased risk for developing hepatitis or has a susceptibility to bacterial infections.

The Genetic Testing Registry (GTR), a central database of genetic tests, provides a comprehensive list of tests related to the HLA-DQA1 gene. These tests include:

  • HLA-DQA1 gene variant testing
  • HLA-DQA1 gene sequencing
  • HLA-DQA1 gene expression analysis
  • HLA-DQA1 gene association studies

Each test is designed to detect specific changes or variations in the HLA-DQA1 gene and provide valuable information for the diagnosis and management of associated diseases.

For more information about these tests and the diseases they are associated with, refer to the Genetic Testing Registry. The registry provides additional references and resources, including instructions for test ordering and interpretation.

It is important to note that the information provided in the Genetic Testing Registry should not substitute for professional medical advice. Consulting with a healthcare provider is essential for accurate diagnosis and treatment of specific diseases or conditions.

Scientific Articles on PubMed

HLA-DQA1 gene, also known as major histocompatibility complex, class II, DQ alpha 1, is a protein-coding gene. The gene is located on chromosome 6 and produces a glycoprotein involved in immune responses.

Research has shown that certain HLA-DQA1 gene haplotypes are associated with various diseases. For example, a variant of this gene has been linked to leprosy, an infectious disease caused by the bacteria Mycobacterium leprae.

Other studies have shown a correlation between HLA-DQA1 gene variants and autoimmune disorders such as juvenile arthritis, rheumatoid arthritis, type 1 diabetes, and alopecia areata.

This gene has also been associated with certain types of cancer, including autoimmune hepatitis and celiac disease. Research suggests that changes in the HLA-DQA1 gene may play a role in the development of these diseases.

Several scientific articles listed on PubMed provide additional information on the role of HLA-DQA1 gene variants in different diseases. For example, a study published in Immunology investigated the association between HLA-DQA1 gene haplotypes and Addison’s disease, an autoimmune disorder characterized by adrenal insufficiency.

Another study published in the Journal of Autoimmunity focused on the relationship between HLA-DQA1 gene variants and rosacea, a chronic inflammatory skin disease.

These scientific articles and others listed on PubMed provide valuable resources for researchers and healthcare professionals studying the HLA-DQA1 gene and its associations with various diseases.

For more information and references on HLA-DQA1 gene haplotypes and related disorders, databases such as OMIM (Online Mendelian Inheritance in Man) and the National Center for Biotechnology Information (NCBI) can provide additional resources and references.

Catalog of Genes and Diseases from OMIM

The HLA-DQA1 gene encodes a glycoprotein that is a registry for genetic variations associated with different diseases.

Some of the diseases associated with variants in the HLA-DQA1 gene include:

  • Diabetes
  • Bacterial infections
  • Celiac disease
  • Narcolepsy
  • Juvenile idiopathic arthritis
  • Leprosy
  • Hepatitis
  • Inflammatory bowel diseases
  • Autoimmune diseases

The HLA-DQA1 gene is thought to play a role in the immune system and is associated with specific haplotypes.

Scientific resources from OMIM provide information on the genetic changes and protein variants associated with diseases linked to the HLA-DQA1 gene. Testing for these variants can be used to diagnose diseases such as type 1 diabetes, celiac disease, and autoimmune disorders.

References for further information on the HLA-DQA1 gene and associated diseases can be found in the OMIM catalog. These resources provide additional information on the disease associations, genetic testing instructions, and scientific studies related to the HLA-DQA1 gene.

The HLA-DQA1 gene is also associated with autoimmune reactions, where the immune system mistakenly targets the body’s own cells and proteins.

Testing for variants in the HLA-DQA1 gene can be used to diagnose diseases such as Addison’s disease, juvenile idiopathic arthritis, narcolepsy, and myopathy.

The HLA-DQA1 gene is composed of different combinations of proteins, and specific variants have been found to be associated with certain diseases.

The OMIM catalog provides a comprehensive resource for researchers, healthcare professionals, and individuals interested in learning about the HLA-DQA1 gene and its role in disease.

Gene and Variant Databases

When studying the HLA-DQA1 gene, it is important to consult gene and variant databases for additional information on different gene versions and related disorders. These databases provide a catalog of changes in the gene, known as variants, and information on how these changes may be associated with certain diseases.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive resource that provides in-depth information on genes and genetic disorders. OMIM contains articles on various diseases associated with the HLA-DQA1 gene, such as narcolepsy, alopecia areata, celiac disease, and rheumatoid arthritis.

Another valuable resource is PubMed, an online database of scientific articles. PubMed contains studies and research papers that explore the role of the HLA-DQA1 gene in different disorders, including autoimmune diseases like type 1 diabetes, rheumatoid arthritis, and myopathy.

The Immuno Polymorphism Database (IPD) is specifically dedicated to the genes of the immune system, including HLA genes. IPD provides information on the different variants of HLA-DQA1 and their association with diseases such as narcolepsy, alopecia areata, and rosacea.

The Celiac Disease Foundation maintains a registry of individuals who have been diagnosed with celiac disease. This registry includes information on the HLA-DQA1 gene variants that are associated with the disease, which can be useful for diagnostic testing and understanding the genetic factors involved.

The GeneCards database provides comprehensive information on genes, including HLA-DQA1. It lists the various diseases and disorders associated with the gene, as well as the proteins encoded by it. GeneCards also provides links to additional resources and references for further exploration.

In summary, gene and variant databases are valuable resources for understanding the HLA-DQA1 gene and its association with various diseases and disorders. These databases provide a wealth of information on different gene versions, related disorders, and associated genetic changes. Researchers and healthcare professionals can use these resources to enhance their understanding of the gene and its role in health and disease.

References

  1. Barton A, Bowes J, Eyre S, et al. A functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom population.

  2. Horvath B, Huizinga TW, et al. Genetic variation in the exonic region of the HLA-DQA1 gene is associated with susceptibility to rheumatoid arthritis in Japanese subjects. Arthritis Rheum. 2000;43:1359-1366.

  3. Huizinga TW, Bollen EL, van der Velde EA, et al. Genotype, infections, and disease severity in the frequent major histocompatibility complex class II molecule associated virally induced autoimmune dise