HLA-B gene – Austra Health

The HLA-B gene is a genetic factor that plays a crucial role in the immune system. It encodes proteins known as human leukocyte antigen (HLA) class I molecules, which are found on the surface of cells. There are many versions, or alleles, of the HLA-B gene, and each allele creates a slightly different version of the HLA-B protein chain.

These HLA-B proteins help the immune system distinguish between the body’s own cells and foreign invaders. They present fragments of proteins, called peptides, to immune cells, which then recognize and respond to these peptides. This process is important for immune defense against infections, as well as for the development of autoimmune diseases.

One of the most well-known associations of the HLA-B gene is with certain autoimmune conditions, such as rheumatoid arthritis and ankylosing spondylitis. For example, the HLA-B27 allele is strongly associated with an increased risk of developing ankylosing spondylitis, a chronic inflammatory disorder that primarily affects the spine and sacroiliac joints. Another example is the HLA-B51 allele, which is commonly found in individuals with Behçet’s disease, a systemic inflammatory disorder that can affect multiple organs.

In addition to autoimmune diseases, the HLA-B gene has also been implicated in other conditions. Certain alleles, such as HLA-B*15:02, are associated with an increased risk of developing severe skin disorders, such as Stevens-Johnson syndrome and toxic epidermal necrolysis, in response to certain medications. On the other hand, certain alleles, including HLA-B*57:01, are protective against human immunodeficiency virus (HIV) infection and progression.

Overall, the HLA-B gene and its various alleles have a significant influence on health and disease. Understanding the role of these genetic factors can not only help in the development of personalized treatments for various conditions, but also provide insights into the underlying mechanisms of these disorders.

Health Conditions Related to Genetic Changes

The HLA-B gene plays a crucial role in the immune system by encoding a protein that is involved in presenting peptides to immune cells. Genetic changes in the HLA-B gene can lead to different versions of the protein, known as alleles. These alleles are associated with various health conditions.

One of the most well-known associations is between the HLA-B gene and ankylosing spondylitis, a type of chronic inflammatory arthritis that primarily affects the spine and sacroiliac joints. The HLA-B27 allele is strongly associated with ankylosing spondylitis, with over 90% of affected individuals carrying this version of the gene. Other conditions in the group of spondyloarthropathies, such as psoriatic arthritis and reactive arthritis, are also associated with the HLA-B27 allele.

Another example is the association between the HLA-B51 allele and Behçet’s disease, a chronic inflammatory disorder characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other symptoms. The HLA-B51 allele is more common in individuals with Behçet’s disease compared to the general population.

The HLA-B gene is also associated with certain infectious diseases. For example, the HLA-B27 allele is associated with an increased risk of developing reactive arthritis following an infection with certain bacteria, such as Salmonella or Campylobacter. Similarly, the HLA-B51 allele is associated with an increased risk of developing recurrent oral and genital ulcers in individuals with human herpesvirus-8 (HHV-8) infection.

In addition, genetic changes in the HLA-B gene can influence the response to certain medications. For example, the HLA-B*15:02 allele is associated with an increased risk of developing a severe skin condition called Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) when treated with the antiepileptic medication carbamazepine.

It is important to note that while these associations provide valuable insights into the role of the HLA-B gene in various health conditions, they do not necessarily imply causation. Furthermore, genetic changes in the HLA-B gene are just one of many factors that contribute to the development of these conditions.

In conclusion, genetic changes in the HLA-B gene can have a significant impact on an individual’s health. The different versions of the HLA-B protein encoded by these genetic changes can influence the immune response, making individuals more susceptible to certain conditions, infections, and medication reactions.

Ankylosing spondylitis

Ankylosing spondylitis is a chronic inflammatory disease that primarily affects the joints and bones of the spine, but can also involve other body parts. It belongs to a group of rheumatic diseases called spondyloarthropathies. The exact cause of ankylosing spondylitis is unknown, but it is believed to be a combination of genetic and environmental factors.

The HLA-B gene, specifically the HLA-B27 version, is strongly associated with ankylosing spondylitis. This gene has been found to influence the immune system’s response and may play a role in the development of the disease. It is estimated that about 90% of individuals with ankylosing spondylitis carry the HLA-B27 gene variant, although not everyone with this gene develops the condition.

Other HLA-B gene versions, such as HLA-B51, have also been associated with related conditions like Behçet’s disease, Stevens-Johnson syndrome/toxic epidermal necrolysis, and psoriatic arthritis. These different gene versions can provide a genetic susceptibility to developing these conditions.

Ankylosing spondylitis primarily affects the spine, causing inflammation, stiffness, and pain. However, it can also cause inflammation in other joints, such as the hips, shoulders, and knees. In some cases, it may even affect the skin, eyes, and other organs.

Treatment for ankylosing spondylitis aims to manage symptoms, slow the progression of the disease, and improve quality of life. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), and biologic agents may be prescribed to relieve pain, reduce inflammation, and improve joint function.

In addition to genetic factors, environmental factors and infections may also play a role in the development of ankylosing spondylitis. It has been observed that certain infections, including those caused by bacteria such as Klebsiella pneumoniae or the parasite causing Entamoeba histolytica, can trigger or exacerbate the disease in genetically susceptible individuals.

Ankylosing spondylitis is more common in certain populations, such as individuals of Caucasian and Asian descent. It tends to occur more frequently in males than females and is often diagnosed in the late teens or early adulthood. The disease can have a significant impact on an individual’s quality of life and may require ongoing management of symptoms and associated conditions.

It is important for individuals with ankylosing spondylitis and their family members to be aware of the genetic component of the disease. Regular monitoring and appropriate treatment can help manage symptoms and improve long-term health outcomes.

Behçet disease

Behçet disease is a disorder that tends to cause inflammation in multiple parts of the body. It is associated with a specific version of the HLA-B gene, known as HLA-B51. This gene has been found to play a role in the development of several other conditions as well, including certain autoimmune disorders.

Behçet disease is classified as an idiopathic inflammatory disease, meaning the exact cause is unknown. However, the HLA-B51 gene has been identified as having a strong association with the disease. Individuals with this gene version are at an increased risk of developing Behçet disease compared to those without the gene.

HLA-B51 is one of many versions, or alleles, of the HLA-B gene. Each allele can have different effects on the immune system and influence the development of various disorders. For example, another allele called HLA-B27 is strongly associated with ankylosing spondylitis, a type of arthritis.

In addition to Behçet disease, HLA-B51 has also been linked to other conditions such as psoriatic arthritis, rheumatoid arthritis, and even certain viral infections like shingles. The exact role of HLA-B51 in these disorders is not fully understood, but it is believed to involve the presentation of specific peptides by the HLA-B51 proteins to immune cells.

Some research suggests that HLA-B51 may be involved in the response to infections, with certain versions of the gene potentially increasing the risk of developing Behçet disease after exposure to specific pathogens. However, more studies are needed to fully understand these associations.

Overall, the HLA-B gene and its various alleles, including HLA-B51, are important factors in the development and progression of multiple health conditions, particularly those involving the immune system or skin. Understanding the influence of these genetic factors can help with diagnosis, treatment, and management of these disorders.

It is important to note that while HLA-B51 is associated with a higher risk of developing Behçet disease, not all individuals with the gene will develop the condition. Similarly, not all individuals with Behçet disease will have the HLA-B51 gene. The disease is also influenced by other factors, such as environmental triggers and other genetic variants.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disorder that primarily affects children and adolescents. It is characterized by inflammation of the joints that leads to pain, stiffness, and swelling. The exact cause of JIA is still unknown, but genetic factors are believed to play a significant role.

The HLA-B gene has been found to influence the development and progression of JIA. Specifically, certain versions of the HLA-B gene, such as HLA-B27 and HLA-B51, have been associated with an increased risk of developing JIA. These gene variants are also associated with other inflammatory diseases, such as ankylosing spondylitis, psoriatic arthritis, and Behçet’s disease.

The HLA-B gene codes for proteins on the surface of cells that help the immune system identify and destroy foreign substances, such as bacteria and viruses. In the context of JIA, it is believed that certain versions of the HLA-B gene may produce proteins that trigger an abnormal immune response, leading to the development of the condition.

JIA is categorized into several subtypes based on the symptoms and age of onset. The most common subtype is oligoarticular JIA, which affects fewer than five joints. Other subtypes include polyarticular JIA, systemic JIA, and enthesitis-related JIA.

Treatment for JIA typically involves a combination of medications, physical therapy, and lifestyle changes. Nonsteroidal anti-inflammatory drugs (NSAIDs) and disease-modifying antirheumatic drugs (DMARDs) are commonly used to manage the symptoms of JIA and reduce inflammation in the joints. In severe cases, biologic medications may be prescribed to target specific proteins involved in the immune response.

Although the exact mechanisms by which the HLA-B gene influences JIA are still not fully understood, research suggests that HLA-B27 and HLA-B51 may be involved in the presentation of peptides derived from infectious agents or self-proteins to immune cells. Changes in the presentation of these peptides may trigger an immune response that leads to the development of JIA.

It is important to note that while the HLA-B gene variants increase the risk of developing JIA, not all individuals with these genetic changes will develop the disorder. Other environmental and genetic factors may also play a role in the development of JIA.

In conclusion, the HLA-B gene, specifically the HLA-B27 and HLA-B51 variants, has been associated with an increased risk of developing JIA. This genetic association provides valuable insights into the underlying mechanisms of the disease and may help in the development of personalized treatments for individuals with JIA.

Psoriatic arthritis

Psoriatic arthritis is a condition that is categorized under the group of inflammatory arthritis conditions. It is associated with the HLA-B gene and can tend to run in families. The HLA-B gene is responsible for encoding a protein that helps the immune system recognize and destroy foreign invaders such as bacteria and viruses.

There are different versions, or alleles, of the HLA-B gene, and each version may play a role in influencing the development of psoriatic arthritis. One allele, HLA-B27, is also associated with other conditions such as ankylosing spondylitis and reactive arthritis. Another allele, HLA-B51, is related to Behçet’s disease, a rare disorder characterized by inflammation of blood vessels throughout the body.

Psoriatic arthritis is often found in individuals who have been diagnosed with psoriasis, a common skin disorder. Around 30% of people with psoriasis may develop psoriatic arthritis. The exact cause of psoriatic arthritis is unknown, but it is believed to be a combination of genetic and environmental factors.

Psoriatic arthritis can cause joint pain, stiffness, and swelling, similar to other forms of arthritis such as rheumatoid arthritis. In some cases, the small joints in the fingers and toes may be affected, resulting in a condition known as dactylitis. Psoriatic arthritis can also affect the spine, a condition referred to as spondylitis.

In addition to joint symptoms, individuals with psoriatic arthritis may also experience skin changes such as red, scaly patches (psoriasis), nail changes, and eye inflammation. Furthermore, psoriatic arthritis has been associated with an increased risk of developing other health conditions such as cardiovascular disease and metabolic syndrome.

Treatment for psoriatic arthritis usually involves a combination of medications, physical therapy, and lifestyle modifications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), and biologic agents can help reduce inflammation and manage symptoms. Physical therapy can help improve joint flexibility and strength.

In conclusion, psoriatic arthritis is a condition that is related to the HLA-B gene and often occurs in individuals with psoriasis. The gene and its variants, along with other genetic and environmental factors, play a role in the development of this condition. Early diagnosis and appropriate treatment can help manage symptoms and improve quality of life for individuals with psoriatic arthritis.

Rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic autoimmune disease that primarily affects the joints. It is believed to have a genetic component, and several genes have been identified as being associated with an increased risk of developing RA. One such gene is the HLA-B gene, specifically the HLA-B27 and HLA-B51 alleles.

HLA-B27 is strongly associated with several different autoimmune conditions, including ankylosing spondylitis and psoriatic arthritis. It is estimated that over 90% of individuals with ankylosing spondylitis carry the HLA-B27 gene. HLA-B51, on the other hand, is associated with Behçet’s disease, a rare autoimmune disorder characterized by recurrent oral and genital ulcers.

While the exact role of HLA-B27 and HLA-B51 in the development of these conditions is still not fully understood, it is believed that these genes play a role in regulating the body’s immune response. The HLA-B gene codes for a protein called major histocompatibility complex (MHC) class I, which is responsible for presenting peptides from within the cell to immune cells. These peptides help the immune system recognize and eliminate infected or abnormal cells.

In addition to their role in autoimmune conditions, HLA-B27 and HLA-B51 have also been associated with an increased risk of developing certain infectious diseases. For example, individuals with HLA-B27 have an increased risk of developing certain types of bacterial infections, such as reactive arthritis and urogenital infections. HLA-B51 has been associated with an increased risk of developing conditions such as recurrent eye inflammation and certain types of herpes infections.

It is important to note that the presence of HLA-B27 or HLA-B51 does not necessarily mean that an individual will develop any of these conditions. However, the presence of these genetic alleles does increase the risk. Other genetic and environmental factors likely play a role in the development of these conditions.

The HLA-B gene has several different versions, or alleles, each of which is associated with different diseases or conditions. In addition to HLA-B27 and HLA-B51, there are other versions of the gene that have been found to be associated with an increased risk of developing certain autoimmune conditions. Some of these conditions include psoriatic arthritis, Stevens-Johnson syndrome, juvenile idiopathic arthritis, and drug-induced hypersensitivity syndrome (also known as drug reaction with eosinophilia and systemic symptoms, or DRESS).

Research into the role of the HLA-B gene in rheumatoid arthritis and other related conditions is ongoing. Understanding the influence of these genetic alleles on disease development may provide valuable insights into the underlying mechanisms of these disorders and help in the development of new treatments.

Shingles

Shingles, also known as herpes zoster, is a disorder caused by the reactivation of the varicella-zoster virus (VZV). This virus is the same one that causes chickenpox. After a person recovers from chickenpox, the virus can remain dormant in the body. Later in life, the virus can reactivate and cause shingles.

Shingles is characterized by a painful rash that usually appears on one side of the body, often in a band or strip. The rash can develop into fluid-filled blisters that eventually scab over. Other common symptoms of shingles include fever, headache, and fatigue.

The HLA-B gene plays a role in the development of shingles. Variations of this gene, specifically alleles HLA-B51 and HLA-B27, have been found to be associated with an increased risk of developing shingles. These genetic changes affect the immune system’s response to the varicella-zoster virus, making individuals with these alleles more susceptible to developing the condition.

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe conditions that affect the skin and mucous membranes. They are often grouped together because they share similar characteristics and can have overlapping symptoms. SJS and TEN are rare and potentially life-threatening conditions, usually triggered by certain medications or infections.

SJS and TEN are both characterized by a painful rash that spreads rapidly and can cause the top layer of the skin to separate from the underlying tissue. This separation can result in the formation of large blisters and significant skin loss, making it a medical emergency.

While the exact cause of SJS and TEN is unknown, it is believed that a combination of genetic and environmental factors play a role. One of the genetic factors associated with an increased risk of developing SJS/TEN is the HLA-B gene, specifically certain versions or alleles of this gene.

The HLA-B gene encodes proteins on the surface of cells that help the immune system recognize self from non-self. Different versions of the HLA-B gene can influence the immune system’s response to certain peptides (small pieces of proteins) derived from pathogens like bacteria or viruses. In the case of SJS/TEN, certain versions of the HLA-B gene may lead to an abnormal immune response to medications or infections.

There are several HLA-B alleles that have been found to be associated with an increased risk of SJS/TEN. The most common allele is HLA-B*15:02, which is particularly prevalent in certain populations, such as East Asians. Other alleles associated with an increased risk include HLA-B*58:01, HLA-B*27:05, and HLA-B*51:01.

It’s important to note that having one of these HLA-B alleles does not guarantee the development of SJS/TEN. Many people with these alleles never develop the condition. Additionally, SJS/TEN can also occur in individuals without any known genetic predisposition.

In addition to genetic factors, medications and infections can trigger SJS/TEN in susceptible individuals. Certain medications, such as antibiotics and anti-seizure drugs, have been linked to an increased risk of SJS/TEN. Infections, particularly those caused by herpes viruses, can also trigger the condition.

SJS/TEN is generally diagnosed based on clinical symptoms and the presence of characteristic skin lesions. Treatment involves immediate discontinuation of the suspected medication or management of the underlying infection. Supportive care, such as fluid replacement and pain management, is also critical to prevent complications. In severe cases, hospitalization in a specialized burn unit may be necessary.

In summary, Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe skin conditions that can be triggered by certain medications or infections. While the exact cause is unknown, genetic factors, specifically certain versions of the HLA-B gene, have been found to influence the risk of developing SJS/TEN. It’s important to seek medical attention promptly if symptoms suggestive of SJS/TEN develop, as early recognition and treatment can significantly impact outcomes.

Other disorders

HLA-B gene is also associated with several other disorders. Here are some of the most common ones:

Bahçet disease: HLA-B51 alleles provide a strong association with this inflammatory disorder which affects various parts of the body, including the skin and the eyes.
Ankylosing spondylitis: Certain versions of the HLA-B gene, such as HLA-B27, are known to be strongly associated with this chronic inflammatory condition that primarily affects the spine.
Psoriatic arthritis: HLA-B27 and other versions of the HLA-B gene are also associated with this form of arthritis that typically occurs in individuals with psoriasis.
Juvenile idiopathic arthritis: HLA-B27 is one of the genes that play a role in influencing the susceptibility to this chronic inflammatory disorder, which affects children.
Rheumatoid arthritis: Although not as strong as the association with ankylosing spondylitis, certain alleles of HLA-B have been found to be associated with susceptibility to rheumatoid arthritis, another chronic autoimmune condition.
Stevens-Johnson syndrome/toxic epidermal necrolysis: HLA-B*15:02 allele is strongly associated with an increased risk of these severe adverse reactions to certain medications, including antiepileptic drugs.
Shingles: HLA-B*15:02 allele is also associated with an increased risk of developing shingles, a viral infection caused by the varicella-zoster virus.
Immunodeficiency conditions: Certain versions of the HLA-B gene have been found to be associated with increased susceptibility to certain infections and immunodeficiency conditions.
Spondyloarthropathies: This group of inflammatory conditions, which includes ankylosing spondylitis and psoriatic arthritis, is strongly associated with HLA-B27 and other HLA-B alleles.

In summary, the HLA-B gene is associated with a wide range of disorders, including autoimmune conditions, skin diseases, and immunodeficiency conditions. Different alleles of the gene are associated with increased risk for each disorder, providing valuable information for understanding the genetic basis and potential treatments for these conditions.

Other Names for This Gene

The HLA-B gene is known by several other names. Some of these names include:

Behçet syndrome-associated HLA-B gene
HLA-B major histocompatibility complex, class I, B
HLA-B5
HLA-Bw51
HLA-Bw60
HLA-B75
HLA-Bw4
HLA-B27-Associated Disease
HLA class I histocompatibility antigen

These names reflect the association of the HLA-B gene with various conditions and disorders. For example, the HLA-B27 version of this gene is associated with an increased risk of developing ankylosing spondylitis and other spondyloarthropathies. The HLA-B51 version is associated with Behçet’s syndrome, while HLA-Bw4 is associated with an increased risk of developing HIV-related diseases.

Furthermore, the HLA-B gene has been found to play a role in the development of certain autoimmune disorders, such as rheumatoid arthritis, psoriatic arthritis, and juvenile idiopathic arthritis. It also influences the risk of inflammatory skin conditions like psoriasis, Stevens-Johnson syndrome, and toxic epidermal necrolysis.

These various versions of the HLA-B gene encode different proteins, which can present different peptides to the immune system. These peptides play a crucial role in immune responses and can help identify and fight off infections. Additionally, the HLA-B gene can influence how certain medications are metabolized and processed by the body.

In summary, the HLA-B gene, also known by various other names, is associated with a wide range of conditions and disorders, including autoimmune diseases, inflammatory skin conditions, and infectious diseases. Its different alleles and versions play a significant role in the immune system’s response to these conditions and can potentially affect how they are treated.