AB1453 PYROPTOTIC GENES AS PREDICTORS OF BONE RESORPTION AND MINERALIZATION IN RHEUMATOID ARTHRITIS AND ANKYLOSING SPONDYLITIS (2024)

FAQs

What is the genetic gene for ankylosing spondylitis? ›

HLA-B27 gene variant

Research has shown more than 8 out of 10 people with AS carry a particular gene variant known as human leukocyte antigen B27 (HLA-B27).

People with spondyloarthritis do not have high titre (concentration) rheumatoid factor antibodies in their blood: they are known as seronegative, whereas people with rheumatoid arthritis can have high or low titre rheumatoid factor antibodies.

HLA-DR4—This is the gene that is most associated with RA. People who have this gene are more likely to develop RA than those who do not and symptoms may be worse. STAT4—This particular gene regulates and activates the immune system. TRAF1 and C5—These genes play a major role in causing chronic inflammation.

The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes , especially the HLA-DRB1 gene.

Affected mothers pass on the disease significantly more often to their offspring than do affected fathers. The combination of HLA B60 with HLA B27 increases chances of developing AS by 3–6 times.

With modern treatments, AS does not normally affect life expectancy significantly, although the condition is associated with an increased risk of other potentially life-threatening problems.

C-reactive protein (CRP): CRP is made in the liver and is one of several proteins that increase in response to inflammation. Testing a sample of blood for CRP levels can provide information about inflammation in the body. CRP is elevated in about 40% of patients with ankylosing spondylitis.

A gene may be part of the cause of AS. But an exact cause is unknown. Symptoms of AS include back pain, early morning stiffness, and a stooped posture. AS can cause other symptoms such as appetite loss, weight loss, fatigue, fever, anemia, eye inflammation, and digestive illness.

Affected joints can feel swollen and tender. How is it different? Ankylosing spondylitis usually produces symptoms in the low back, hips, and/or shoulders first. In contrast, rheumatoid arthritis usually first affects smaller joints, such as those in the hands and feet (occasionally the knees are the first affected).

There is no single rheumatoid arthritis gene. Rather, researchers have identified the location of more than 150 locations that are associated with RA that, coupled with environmental factors, increase the risk of developing the disease. The rheumatoid arthritis genetic markers include STAT4, TRAF1/C5, and PTPN22.

What genetic disorders mimic rheumatoid arthritis? ›

Genetics and Rheumatoid Arthritis

The gene link with rheumatoid arthritis is to an immune system gene called HLA-DR4. In rheumatoid arthritis patients of European ancestry, as many as 60–70% carry the HLA-DR4 gene, compared with 30% in the general population.

RA isn't always a disability, but it can qualify as one if a person with RA meets specific criteria. The exact criteria depend on the agency or organization you'd like to receive services or benefits from. As a rule, to be considered a disability, RA needs to be severe enough to prevent you from working.

Systemic lupus erythematosus (lupus) and scleroderma are two autoimmune diseases that can mimic rheumatoid arthritis. Autoimmune diseases are those in which the body's immune system attacks its own cells and tissues.

Lupus is not a hereditary condition. However, genetic factors play an important role in the condition, and certain inheritable genes may increase a person's risk of developing lupus. Lupus is a chronic autoimmune condition in which the immune system mistakenly attacks healthy tissue.

The presence of the HLA-B27 allele varies by geographic region, with more prevalence at northern latitudes. In the United States, the estimated prevalence is six to eight percent. The vast majority of patients with this allele will not develop an HLA-B27 associated syndrome.

A positive test means HLA-B27 is present. It suggests a greater-than-average risk for developing or having certain autoimmune disorders. An autoimmune disorder is a condition that occurs when the immune system mistakenly attacks and destroys healthy body tissue.

Studies indicate that HLA-B27 associated uveitis is a distinct entity characterized by a male predominance and frequent association with seronegative spondyloarthropathies, such as ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and inflammatory bowel disease.

Researchers do not know the cause of ankylosing spondylitis. However, studies show that both genes and environment may lead to the development of the disease.