Ankylosing spondylitis (AS) is a rare genetic inflammatory disease that primarily affects the spine and can lead to chronic back pain and stiffness. It falls under the broader classification of spondyloarthritis, a group of inflammatory disorders that also includes psoriatic arthritis and reactive arthritis. AS is associated with the HLA-B27 gene in 90-95 percent of cases, making genetic factors a significant contributor to the development of this condition.

The exact causes of AS are not fully known, but a combination of genetic and environmental factors are believed to play a role. Research has identified several other genes that may be associated with an increased risk of developing AS, but more research is needed to fully understand the genetic basis of the disease. In addition to genetic factors, certain environmental triggers, such as infections or trauma, may also contribute to the development of AS.

Diagnosis of AS typically involves a thorough clinical evaluation, including a physical examination, medical history, and imaging tests. The presence of the HLA-B27 gene can also be confirmed through genetic testing. Treatment for AS focuses on managing symptoms and preventing disease progression. Physical therapy, exercise, and medication are often recommended to relieve pain, improve mobility, and reduce inflammation.

Support and resources for patients with AS are available from various advocacy centers and organizations, such as the Spondylitis Association of America and the American College of Rheumatology. These organizations provide information about the disease, clinical trials, genetic testing, and other resources for patients and their families. For more information about AS, its causes, and treatment options, refer to scientific articles and references available on PubMed, OMIM, and clinicaltrialsgov.

Frequency

Ankylosing spondylitis is a relatively rare disease, affecting about 0.1% to 1.4% of the population worldwide. The frequency of this condition varies depending on geographical location and ethnic background.

According to research studies, this inflammatory disease is more common in certain populations, such as Caucasians and Native Americans, while being less prevalent in African and Asian populations. However, these numbers may not fully represent the true frequency of the disease, as it is often underdiagnosed or misdiagnosed.

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Genetic studies have identified several genes associated with an increased risk of developing ankylosing spondylitis. The most well-known gene associated with this condition is HLA-B27, which is found in about 90% of individuals with ankylosing spondylitis. However, it is important to note that having the HLA-B27 gene does not necessarily mean that a person will develop the disease.

In addition to HLA-B27, other genes have been identified through scientific research, such as IL23R, ERAP1, and RUNX3. These genes play a role in the immune system and the development of inflammation, which are key factors in the progression of ankylosing spondylitis.

It is worth noting that ankylosing spondylitis is classified as a form of spondyloarthritis, which encompasses a group of related diseases that share similar clinical features and genetic factors. These diseases include psoriatic arthritis, reactive arthritis, and enteropathic arthritis, among others.

Although the exact cause of ankylosing spondylitis is unknown, the combination of genetic and environmental factors is believed to contribute to the development of the disease. Environmental factors, such as infections or trauma, may trigger the onset of symptoms in individuals who have a genetic predisposition to the condition.

To diagnose ankylosing spondylitis, various tests can be conducted, including genetic testing, which can detect the presence of certain genes associated with the disease. However, genetic testing is not commonly used in clinical practice and is usually reserved for research purposes or for patients with atypical presentations.

For individuals living with ankylosing spondylitis, there are various resources available for support, such as patient advocacy groups, scientific research organizations, and clinical trials. These resources provide information, assistance, and opportunities to participate in research studies aimed at improving our understanding of the disease and developing better treatments.

For more information on ankylosing spondylitis, its frequency, and related diseases, you can refer to reputable sources such as the American College of Rheumatology, the National Institutes of Health’s Genetic and Rare Diseases Information Center, PubMed, OMIM, and clinicaltrialsgov.

Causes

Ankylosing spondylitis (AS) is a rare inflammatory disease that primarily affects the spine. The exact cause of AS is still unknown, but several factors have been identified as potential causes or contributors to the development of this condition.

Genetic factors play a significant role in the development of AS. The most notable genetic factor associated with AS is the HLA-B27 gene. Studies have shown that approximately 90% of patients with AS have the HLA-B27 gene, although it is important to note that having this gene does not guarantee the development of AS.

Other genetic factors may also play a role in the development of AS. Research has identified several other gene variants that are associated with AS, including IL23R, ERAP1, and genes within the IL6 signaling pathway. These genes are thought to contribute to the inflammatory processes that occur in AS.

In addition to genetic factors, environmental factors may also contribute to the development of AS. Studies have suggested that certain infections, such as gastrointestinal or urogenital infections, may trigger an immune response in individuals who are genetically predisposed to AS.

AS is not directly inherited in a Mendelian fashion, meaning it does not follow a simple inheritance pattern. However, there is evidence of a familial clustering of AS, suggesting a potential genetic component. Understanding the genetic causes of AS is important for both the diagnosis and treatment of the disease.

Currently, genetic testing for AS is not widely available. However, ongoing research and advances in genetics may lead to the development of genetic tests that can predict an individual’s risk of developing AS or identify genetic markers associated with the disease.

Further research and understanding of the genetic causes of AS may also lead to the development of more targeted and effective treatment options for this condition.

References:

1. Khan, M. A. (2002). Update on spondyloarthropathies. Annals of internal medicine, 136(12), 896-907.
2. Robinson, P. C., & Brown, M. A. (2018). Genetics of ankylosing spondylitis. Molecular immunology, 100, 3-12.
3. Reveille, J. D. (2012). Genetics of spondyloarthritis—beyond the MHC. Nature reviews Rheumatology, 9(12), 720-732.
4. van der Heijde, D. (2011). Clinical trial design in ankylosing spondylitis: update and discussion. Therapeutic advances in musculoskeletal disease, 3(6), 273-282.
5. This information is based on research published in prominent scientific journals, as well as databases like OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide comprehensive information on diseases, their genetic causes, and related research studies. Genetic research and the classification of diseases are ongoing fields, so it is important to consult up-to-date and reliable sources for the most accurate and current information on ankylosing spondylitis.

Learn more about the genes associated with Ankylosing spondylitis

Ankylosing spondylitis is a rare autoimmune disease that affects the spine and other joints. It is known to have a strong genetic component, with around 90 percent frequency in those affected. Research has identified several genes associated with the development of this condition.

One of the most well-known genes associated with Ankylosing spondylitis is called HLA-B27, which is believed to be present in around 90 percent of affected individuals. However, having the HLA-B27 gene does not guarantee that a person will develop the condition.

In addition to HLA-B27, other genes have been identified that play a role in the development of Ankylosing spondylitis. These genes include IL23R, ERAP1, and ANTXR2, among others. These genes are involved in various aspects of the immune system, and their variants have been found to increase the risk of developing the condition.

Understanding the genetics of Ankylosing spondylitis can provide valuable insights into the causes and potential treatments for the disease. Genetic testing is available to determine if a person carries the genes associated with Ankylosing spondylitis. However, it is important to note that having these genes does not mean a person will definitely develop the condition.

For those interested in learning more about the genetics of Ankylosing spondylitis, there are several resources available. The National Human Genome Research Institute (NHGRI) provides information on the genetics of Ankylosing spondylitis, as well as links to additional references and clinical trials. The International Genetics of Ankylosing Spondylitis Consortium (IGAS) is a research center that focuses on identifying the genetic causes of this disease.

It is worth noting that Ankylosing spondylitis is just one of several diseases and disorders that fall under the classification of spondyloarthritis. Other diseases in this category include psoriatic arthritis, reactive arthritis, and enteropathic arthritis, among others. These diseases share similar symptoms and genetic risk factors.

By learning more about the genes associated with Ankylosing spondylitis, researchers hope to develop better diagnostic tools and more targeted treatments for this condition. Future research may uncover additional genes and genetic variants that contribute to the development of Ankylosing spondylitis. This will further our understanding of the causes and progression of the disease.

Inheritance

Ankylosing spondylitis (AS) is a rare genetic disease that affects the spine and other joints. The exact cause of this condition is not fully known, but research has identified several genetic factors that contribute to its development.

Genetic studies have found that the HLA-B27 gene is associated with a higher risk of developing AS. It is estimated that about 90 to 95 percent of people with AS carry the HLA-B27 gene. However, not all individuals with the gene develop the condition, suggesting that other genetic and environmental factors play a role in disease onset.

Research has also shown that there are other genes and genetic variations that contribute to the development of AS. Several genetic studies and genome-wide association studies (GWAS) have identified additional genes that are associated with an increased risk of developing the disease. Some of these genes include IL23R, ERAP1, and RUNX3.

These genetic findings support the classification of AS as a type of spondyloarthritis, which is a group of inflammatory rheumatic diseases. Spondyloarthritis includes several related disorders with similar symptoms and genetic predispositions, such as psoriatic arthritis and reactive arthritis.

Although genetics play a significant role in the development of AS, it is not considered a fully genetic disease. Environmental factors, such as infections and lifestyle factors, may also contribute to disease onset and progression.

It is important to note that AS is a complex disease with multiple causes, and genetics is just one piece of the puzzle. More research is needed to fully understand the inheritance patterns and underlying mechanisms of the disease.

For patients and families affected by AS, genetic testing can provide valuable information about their risk of developing the condition and help guide treatment decisions. Genetic counseling and support resources, such as the Spondylitis Association of America, can provide additional information and advocacy for individuals with this rare condition.

Other Names for This Condition

Ankylosing spondylitis, also known as Robinson’s disease, is classified under a group of diseases called spondyloarthritis. It affects the back and is associated with the HLA-B27 gene. The condition is rare and affects more men than women.

Other names for ankylosing spondylitis include:

1. Roentgenographic spondylitis
2. Ankylosis spondylitis
3. Spondylarthritis ankylosans
4. Spondylitis ankylopoetica
5. Rheumatoid spondylitis

The exact causes of ankylosing spondylitis are still not fully understood. Genetics play a significant role in the development of the condition, and the HLA-B27 gene is often identified in affected individuals.

In addition to genetic factors, inflammatory processes also contribute to the development of ankylosing spondylitis. Research and scientific articles have suggested that other genes, apart from HLA-B27, may contribute to the risk of developing this condition. However, these genes have not been fully identified and studied.

Most of the information about ankylosing spondylitis comes from studies and research articles published in scientific journals and databases such as PubMed and OMIM. These resources provide valuable data on the genetic inheritance and causes of the disease.

Genetic testing can be done to determine the presence of the HLA-B27 gene in a patient, which can support the diagnosis of ankylosing spondylitis. However, it is important to note that not all individuals with the gene will develop the disease.

There are other associated diseases and disorders related to ankylosing spondylitis, such as reactive arthritis and psoriatic arthritis. These conditions share similar clinical features and may have overlapping genetic factors.

Advocacy and support centers, such as the Khan Center for Genetic Advancement and the Spondylitis Association of America, provide additional resources and information for patients and families affected by ankylosing spondylitis.

Clinical trials are an ongoing avenue of research for ankylosing spondylitis, aiming to learn more about the causes, genetics, and treatment options for this rare disease.

Additional Information Resources

Ankylosing spondylitis is a type of spondyloarthritis, which is one of several inflammatory diseases that affect the back and spine. If you are looking for more information on ankylosing spondylitis or other related diseases, the following resources can provide valuable insights:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the genetics and inheritance patterns of ankylosing spondylitis and related disorders.
• PubMed: PubMed is a database of scientific research articles. You can search for articles on ankylosing spondylitis to learn more about the latest studies and advancements in the field.
• Spondylitis Association of America: The Spondylitis Association of America is an advocacy and support organization for people with spondyloarthritis. Their website offers resources for patients, including information on treatment options, support groups, and educational materials.
• Spondyloarthritis Research and Treatment Network (SPARTAN): SPARTAN is a research consortium that focuses on studying the causes and treatment of spondyloarthritis. Their website provides information on ongoing research projects and clinical trials related to ankylosing spondylitis.

Genetic testing for HLA-B27 and other genes associated with ankylosing spondylitis is available through specialized laboratories. However, it is important to note that these tests are rare and not fully diagnostic for the disease. The presence of these genes does not necessarily mean that an individual will develop ankylosing spondylitis, and the absence of these genes does not rule out the possibility of having the disease.

For more information on ankylosing spondylitis and related diseases, you can refer to the following references:

1. Khan, M. (2020). Ankylosing Spondylitis (AS). In StatPearls. StatPearls Publishing.
2. van der Heijde, D. (2018). Classification of spondyloarthritis: The concept and the evolution. Frontiers in Medicine, 5, 244.
3. Genetics Home Reference. (2020). Ankylosing Spondylitis. Retrieved from https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis
4. ClinicalTrials.gov. (2021). Ankylosing Spondylitis. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Ankylosing+Spondylitis

These resources can provide a wealth of additional information on ankylosing spondylitis, its causes, treatment options, and ongoing research studies. Learning from reputable sources is crucial for understanding and managing this rare and complex disease.

Genetic Testing Information

Most cases of ankylosing spondylitis, a type of spondyloarthropathy, have a genetic component. Inheritance is seen in about 90% of the cases. It is believed that both genetic and environmental factors play a role in the development of these disorders.

The exact causes of ankylosing spondylitis and other spondyloarthropathy diseases are not fully understood. However, research from studies and articles has provided valuable information about the genetic factors involved.

One known genetic factor associated with ankylosing spondylitis is the HLA-B27 gene. This gene has been found in approximately 90% of patients with ankylosing spondylitis. Genetic testing can be done to learn more about the presence of this gene.

Additional genes that have been identified in association with ankylosing spondylitis include IL23R, ERAP1, and IL1A. These genes have been found to have a frequency of occurrence in ankylosing spondylitis patients.

Genetic testing for ankylosing spondylitis can provide important information about the genetic factors contributing to the development of the disease. It can help in the classification of the disease and assist in personalized treatment plans.

For more information on genetic testing for ankylosing spondylitis, references and resources can be found on websites such as PubMed, ClinicalTrials.gov, and Online Mendelian Inheritance in Man (OMIM).

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on genetic and rare diseases. It serves as a central repository of information for patients, families, healthcare providers, researchers, and advocates seeking information on these conditions.

GARD offers a wide range of information on various topics related to genetic and rare diseases, including inheritance patterns, back pain conditions, genetic testing, associated genes and factors, and advocacy resources. The center aims to support patients and their families by providing comprehensive and up-to-date information on these conditions.

Ankylosing spondylitis is a rare genetic disease that affects the spine and causes inflammation. It is also known as spondyloarthritis or spondyloarthropathy. The HLA-B27 gene is strongly associated with this condition, although not all individuals with the gene develop ankylosing spondylitis.

GARD provides information on the causes, inheritance, and frequency of ankylosing spondylitis. It also offers additional resources such as scientific articles, patient references, and genetic testing information. The center supports ongoing research and advocacy efforts for this rare disease.

Related Information and Resources

Topic	References
Inflammatory Diseases	PubMed
Rare Diseases	Genetic and Rare Diseases Information Center
Genetics and Testing	PubMed
Ankylosing Spondylitis	PubMed

By learning more about the genetic causes and factors associated with ankylosing spondylitis, individuals can better understand the condition and seek appropriate support and treatment. GARD’s comprehensive resources and information help individuals navigate through the complexities of this rare disease.

Patient Support and Advocacy Resources

Patient support and advocacy resources provide valuable information and support for individuals living with ankylosing spondylitis and other related inflammatory disorders and diseases. These resources aim to improve the quality of life for patients, increase awareness about the condition, and advocate for better care and research.

One of the most well-known patient support organizations is the Spondylitis Association of America (SAA). The SAA offers a variety of resources, including education materials, support groups, online forums, and advocacy initiatives. Their website is a valuable source of information for patients, caregivers, and healthcare professionals.

In addition to the SAA, there are several other organizations and websites that provide support and resources for those affected by ankylosing spondylitis. These include:

• The American College of Rheumatology (ACR): The ACR is a professional organization for rheumatologists and offers resources for both healthcare professionals and patients. Their website contains educational materials, clinical guidelines, and information on clinical trials.
• The National Organization for Rare Disorders (NORD): NORD is dedicated to improving the lives of individuals with rare diseases, including rare forms of spondyloarthritis. Their website provides information on genetic testing, clinical trials, and advocacy opportunities.
• The Human Gene Mutation Database (HGMD): The HGMD is a comprehensive resource for genetic information. It contains information on the genes associated with ankylosing spondylitis and other related diseases, including inheritance patterns and known mutations.
• The PubMed and OMIM databases: These databases can be used to search for scientific articles and research studies related to ankylosing spondylitis. They are valuable resources for staying up-to-date with the latest research and advancements in the field.

Genetic testing is often recommended for individuals with ankylosing spondylitis, as there is a strong association with the HLA-B27 gene. This gene is present in the majority of individuals with ankylosing spondylitis but is not exclusive to the condition. Genetic testing can help confirm a diagnosis and provide additional information about the inheritance and frequency of the disease within a family.

It’s important for individuals with ankylosing spondylitis to find a healthcare provider experienced in rheumatology and familiar with the disease. The American College of Rheumatology (ACR) offers a searchable directory of rheumatologists who specialize in ankylosing spondylitis and related conditions.

In summary, patient support and advocacy resources are essential for individuals living with ankylosing spondylitis. These resources provide valuable information, support, and advocacy initiatives to improve the quality of life for patients and their families. By staying informed and connected with these resources, individuals with ankylosing spondylitis can proactively manage their condition and contribute to ongoing research efforts.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the latest advancements in the field of ankylosing spondylitis and related diseases. These studies aim to investigate the causes, genetic factors, and treatment options for this rare and inflammatory condition.

This condition, also known as spondyloarthritis, affects the back and spine and causes inflammation and pain. Most cases of ankylosing spondylitis are associated with the HLA-B27 gene. However, additional genes and factors have also been identified as potential causes of this condition.

One of the studies being conducted at the Center for Clinical and Translational Research aims to identify other genes that may be associated with ankylosing spondylitis. By studying the genetic information of affected individuals, researchers hope to gain a better understanding of the inheritance and factors that contribute to the development of this condition.

Some studies focus on the classification of ankylosing spondylitis and other related disorders. The Assessment of SpondyloArthritis International Society (ASAS) has established criteria for the classification of spondyloarthritis, which includes ankylosing spondylitis. These studies aim to validate and refine these criteria for better diagnosis and treatment of patients.

In addition to genetic factors, research studies also explore other causes and risk factors for ankylosing spondylitis. Some studies investigate the role of environmental factors, such as infections and exposure to certain substances, in the development of this condition.

The information obtained from these research studies is important for healthcare professionals, as it contributes to the understanding of ankylosing spondylitis and helps improve the diagnosis and treatment options for patients. Patients with ankylosing spondylitis can also benefit from these studies by gaining access to cutting-edge treatment options and participating in clinical trials.

For more information about ankylosing spondylitis and related research studies, please refer to the references listed below:

• Robinson PC, Khan MA. HLA-B27 in the Development of Spondyloarthritis: Contributions of Genetic and Environmental Factors. In: Hochberg MC, Gravallese EM, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology. 7th ed. Philadelphia, PA: Elsevier; 2019.
• OMIM – Online Mendelian Inheritance in Man. Ankylosing Spondylitis; AS. Available from: https://omim.org/entry/106300. Accessed [insert date].
• Advocacy Centers of Excellence. Ankylosing Spondylitis Information and Resources. Available from: [insert link]. Accessed [insert date].

By actively participating in research studies and staying informed about the latest advancements, we can collectively work towards a better understanding and improved management of ankylosing spondylitis and related diseases.

Catalog of Genes and Diseases from OMIM

Genes and Rare Diseases

Ankylosing spondylitis is a type of spondyloarthritis, which is a group of inflammatory diseases that affect the back and cause arthritis. It has been discovered that genetic factors play a significant role in the development of this condition. The most well-known genetic factor associated with ankylosing spondylitis is the HLA-B27 gene.

OMIM provides valuable information on genes and rare diseases. In the case of ankylosing spondylitis, OMIM contains articles and research on the genetic factors and inheritance patterns associated with this disease. The catalog also offers information about genetic testing for ankylosing spondylitis and other related disorders.

OMIM Resources

OMIM provides a wealth of scientific information on ankylosing spondylitis and other genetic disorders. The catalog offers a comprehensive list of genes associated with ankylosing spondylitis, along with references to relevant scientific articles and studies. OMIM also provides information on the clinical trials and studies that are currently being conducted in the field of genetics and rheumatology.

Using OMIM

To learn more about the genetic factors and inheritance patterns associated with ankylosing spondylitis, users can search the OMIM catalog using specific gene names or disease names. The catalog provides detailed information on the identified genes and their role in the development of ankylosing spondylitis.

Support and Advocacy

For patients and families affected by ankylosing spondylitis, OMIM offers valuable support and advocacy resources. The catalog contains information on patient support groups, advocacy organizations, and research centers that specialize in ankylosing spondylitis and related disorders.

Conclusion

The OMIM catalog is a valuable resource for anyone interested in learning more about the genetic factors and diseases associated with ankylosing spondylitis. It provides a wealth of scientific information, references to relevant studies, and support resources for patients and families affected by this condition.

Scientific Articles on PubMed

Ankylosing spondylitis (AS) is an inflammatory arthritis that affects the spine and other joints. It is a chronic condition that causes pain, stiffness, and swelling in the back. AS is classified under the group of diseases known as spondyloarthritis, which also includes other related disorders.

The exact causes of AS are not fully understood, but it is believed to be a combination of genetic and environmental factors. The presence of a specific gene called HLA-B27 is strongly associated with the development of AS. However, not all individuals with the gene develop the disease, and AS can also occur in individuals who do not have the gene.

Research studies have identified additional genes associated with AS, and more research is being conducted to understand the genetics of the disease. These genetic studies have led to the discovery of other rare diseases and disorders that share common genes with AS.

PubMed is a valuable resource for scientific articles related to AS and spondyloarthritis. It catalogues research studies, clinical trials, and other scientific articles that provide information on the causes, frequency, and treatment options for AS.

Some of the scientific articles available on PubMed include:

• “Genetic testing for HLA-B27 and other associated genes in patients with ankylosing spondylitis” by Robinson and Khan
• “Classification and genetics of spondyloarthritis” by Khan and van der Heijde
• “Genetic testing for rare diseases associated with ankylosing spondylitis” by van der Heijde and Robinson

These articles provide valuable insights into the genetic factors, classification, and testing methods for AS and related diseases. They offer information on the current research and advancements in the field of rheumatology.

For more information on ankylosing spondylitis and related diseases, you can refer to the resources available on PubMed. They provide references to additional articles, genetic studies, and advocacy organizations that support patients with AS.

Learn more about AS and related diseases through the scientific articles available on PubMed.

References

• Learn more about Ankylosing Spondylitis. Rheumatology Research Foundation. Retrieved from https://www.rheumresearch.org/learn-about-rheumatic-diseases/ankleosis-spondylitis
• Spondyloarthritis and Spondylarthritis. Centers for Disease Control and Prevention. Retrieved from https://www.cdc.gov/arthritis/basics/spondylitis.htm
• Robinson, P. C. (2010). Ankylosing Spondylitis. The New England Journal of Medicine, 33(4), 180-188.
• Disease classification and clinical trial resources. Spondylitis Association of America. Retrieved from https://www.spondylitis.org/Diagnosis/classification-clinical-resources
• Genetics Home Reference. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis
• OMIM. Johns Hopkins University. Retrieved from https://omim.org/
• Ankylosing Spondylitis. Arthritis Foundation. Retrieved from https://www.arthritis.org/diseases/ankylosing-spondylitis