Tuesday, June 25, 2024

Does 23andme Test For Rheumatoid Arthritis

Can Genetic Markers Be Used To Predict Who Will Respond To Medications

My 23andMe DNA Results

These are exciting times in the treatment of RA, with a number of different types of medications currently available to manage the condition. The recent explosion in the number of biologic and targeted therapies available to treat RA, all of which work through slightly different mechanisms, have made it important to develop ways to predict which individuals will benefit from which drug. This would allow us to tailor treatment to each person.

Several large studies have been carried out focussing on anti-TNF biologic drugs to find genetic markers that may predict whether these drugs are likely to work well in patients with RA. One study looked for genetic markers associated with a reduction in levels of disease activity in 2,706 RA patients receiving one of three anti-TNF medications . The researchers found that one marker was associated with a reduction in disease activity in individuals receiving etanercept. In another study, the HLA DRB1 gene variants that increase the risk of RA were also found to predict a better response to these treatments. Far more work is needed in this important area however, before we can use genetic information to guide treatment decisions.

Human Leukocyte Antigen Tissue Typing

This test checks for a genetic marker called human leukocyte antigen .

Some studies suggest that around 60% of RA cases may be inherited. If a person has specific antigens, it could mean that they have a higher likelihood of developing RA. However, other factors, such as tobacco use, can also trigger the condition.

HLA markers in the blood can help indicate the likelihood of developing an immune-related condition such as RA. These markers may also be a sign of another condition, such as ankylosing spondylitisor reactive arthritis.

What Genes Increase Risk Of Rheumatoid Arthritis

Like many autoimmune conditions, rheumatoid arthritis has an important genetic component that acts in conjunction with environmental factors to trigger the onset of the disease. The most important RA-related genes are in the human leukocyte antigen region, which encodes several important molecules for the immune system and is associated with a variety of autoimmune diseases .

The biggest genetic risk factor for RA is carrying the HLA-DRB1 shared epitope . The most-studied alleles coding the shared epitope include HLA-DRB1*1402, HLA-DRB1*1001, and alleles in the HLA-DRB1*04 group .

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Treatment Of Rheumatoid Arthritis

Treatment of rheumatoid arthritis continues to improve, which can give many people relief from symptoms, improving their quality of life. Doctors may use the following options to treat RA:

  • Physical therapy and occupational therapy.
  • Routine monitoring and ongoing care.
  • Complementary therapies.

Your doctor may recommend a combination of treatments, which may change over time based on your symptoms and the severity of your disease. No matter which treatment plan your doctor recommends, the overall goals are to help:

  • Prevent, slow, or stop joint and organ damage.
  • Improve your ability to participate in daily activities.

Rheumatoid arthritis may start causing joint damage during the first year or two that a person has the disease. . Once joint damage occurs, it is generally cannot be reversed, so early diagnosis and treatment are very important.

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Maintain good dental hygiene and nip gum disease in the bud. Porphyromonas gingivalis, the main bacteria responsible for periodontitis, has been implicated in rheumatoid arthritis. And, periodontitis is associated with higher levels of disease activity for people whove already developed RA. Prioritizing oral health may help reduce the risk or severity of RA in susceptible people.

Avoid extremely high intakes of coffee. Excessive coffee intake appears to be a risk factor for some forms of rheumatoid arthritis .

Keep in mind, having a higher genetic likelihood of developing RA doesnt guarantee you will actually get the disease! To officially diagnose RA in people with symptoms, doctors will typically test for rheumatoid factor and anti-cyclic citrullinated peptide, which are antibodies associated with rheumatoid arthritis. The goal with learning our genetic risk isnt to feel doomed and helpless, but to be empowered to make changes that support lifelong good health!

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Where Does Rheumatoid Arthritis Usually Start

The symptoms of RA usually come and go, and might progress over a period of weeks or months.

Fatigue is the first sign of RA and is usually experienced before the onset of other symptoms.

Fatigue could be accompanied by depression or a feeling of ill health.

One could also experience morning stiffness, joint stiffness, joint pain, fever, minor joint swelling, decrease in range of motion, numbness & tingling, weight loss, difficulty in sleeping, dry mouth, loss of appetite, eye discharge, etc during the early stages of development of the disease.

Rheumatoid Arthritis Blood Tests

The rheumatoid arthritis blood tests that doctors perform to help diagnose the disease include:

  • Rheumatoid factor
  • C-Reactive Protein
  • Antinuclear Antibody

None of these tests can singularly conclude that a patient has rheumatoid arthritis. Rather, doctors look at the combined results from all, alongside a number of other criteria including physical symptoms and genetics, in order to reach a rheumatoid arthritis diagnosis.

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Who Should Diagnose And Treat Ra

A doctor or a team of doctors who specialize in care of RA patients should diagnose and treat RA. This is especially important because the signs and symptoms of RA are not specific and can look like signs and symptoms of other inflammatory joint diseases. Doctors who specialize in arthritis are called rheumatologists, and they can make the correct diagnosis. To find a provider near you, visit the database of rheumatologistsexternal icon on the American College of Rheumatology website.

Treatment Advances & Research

How is Rheumatoid Arthritis Diagnosed? | Johns Hopkins Rheumatology

While there is no cure for RA, there are several treatment options that can help slow the progression of the diseaseanother reason why early diagnosis is so critical. Rheumatologists may suggest medications that slow the disease and prevent joint deformity. In addition to medication, they may also recommend physical and occupational therapy and/or surgery . Lifestyle modifications like regular exercise, stress management, and weight loss can also help reduce RA symptoms and help with pain management.2,3

“There are two broad types of research aimed at understanding the link between genetics and RA,” says Hu. “One is identifying genetic variations across the genome that are associated with the risk of disease, and the other is investigating the biological consequences of such genetic changes in cells, tissues, and organisms.”

Clinical trials offer some hope as well. These trials are actively working to understand RA better and to develop newer, more advanced treatment options. By analyzing RAs genetic markers, researchers will be better able to tailor drugs and medications for patients.


  • NIH.gov. Understanding Rheumatoid Arthritis at the Cellular Level. May 21, 2019. Available here: . Accessed November 11, 2020.
  • CDC.gov. Rheumatoid Arthritis . Available here: . Accessed November 11, 2020.
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    Why Genetic Tests Are Different

    New York Times

    23andMe said my most elevated risks about double the average were for psoriasis and rheumatoid arthritis, with my lifetime odds of getting the diseases at 20.2 percent and 8.2 percent. But according to Genetic Testing Laboratories, my lowest risks were for you guessed it psoriasis and rheumatoid arthritis .For coronary heart disease, 23andMe and G.T.L. agreed that I had a close-to-average risk, at 26 to 29 percent, but Pathway listed my odds as above average.

    What Is Ankylosing Spondylitis

    Ankylosing spondylitis is a chronic inflammatory disease that mainly affects the spine. It causes back pain and spinal stiffness, and the vertebrae can fuse together. This often occurs in young adults. You can find more information on the Spondylitis Association of America site.

    Carriers of HLA-B27 are at a 20-fold increased relative risk for the disease. Keep in mind that this is a relative risk. For example, if the risk of ankylosing spondylitis is normally 1 in 200 , carrying the HLA-B27 variant increases your risk to 20 in 200 .

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    Diagnosing Rheumatoid Arthritis With Blood Tests

    Rheumatoid arthritis blood tests are only one way to help doctors reach a diagnosis. If a patient is positive for any of these tests, they must also exhibit specific symptoms of rheumatoid arthritis. Doctors look at multiple other criteria besides blood test results when determining their diagnosis.

    In some cases, patients can still be diagnosed with rheumatoid arthritis even if they dont test positive for the various types of antibodies found in rheumatoid arthritis blood tests.

    Read more about diagnosing rheumatoid arthritis and the different types of rheumatoid arthritis here.

    Evidence For The Role Of Genes In Rheumatoid Arthritis: Family Studies

    Genes to Know About: Rheumatoid Arthritis Genes

    Isolated reports of RA affecting several generations in families, which were all published in the early 20th century, prompted further studies in the 50s, 60s and 70s. These compared the number of cases of RA in relatives of patients with the disease with the number of cases in relatives of patients without the disease, or with the number of cases in the general population. These studies confirmed that relatives of individuals with RA had an increased risk of getting the disease themselves, compared to other relatives or the general population. The estimates of the degree of this risk varied quite widely between the studies, reflecting the different methods used. The most recent study assessing this issue, which was undertaken in Sweden, reported that first degree relatives of patients with RA were approximately three times more likely to develop RA when compared to first degree relatives of people from the general population.

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    What Foods Should Be Avoided With Rheumatoid Arthritis

    • Saturated fats like red meat, dairy full-fat dairy products, pasta and grain-based desserts which can cause inflammation in fat tissue.
    • Omega-6 fatty acids like corn oil, sunflower oil, safflower oil, soy oil, and vegetable oils.
    • Trans fats like fried foods, fast foods & processed foods.
    • Foods that contain excessive amounts of salt. The ideal quantity is < 1500 mg per day
    • Sugar: It aids the production of cytokines that kick-start the inflammation process. Avoid fructose and sucrose sugars.
    • Alcohol: It doesn’t get along with RA medication. NSAIDs can cause stomach ulcers and bleeding which might get worse with alcohol consumption.
    • Fried or grilled foods: It can raise AGE levels in the blood that causes inflammation.

    Conditions Not Included In 23andme

    This article will discuss some conditions that are not included in 23andMe reports. If you are interested in learning about which conditions are included in the 23andMe Health + Ancestry Service, you can view a full list here.

    23andMe does not offer diagnostic testing. For testing related to a personal or family history of a particular genetic disease, please consult a healthcare provider in order to ensure that you are pursuing the most appropriate test for your personal situation. Although we recognize there is interest in reports on the following topics, reports are not available on any of the following topics. The list below is not comprehensive, and conditions not listed here are not necessarily included in our current 23andMe reports.

    • Copy number variations , balanced rearrangements and mosaicism
    • Trinucleotide Repeat Disorders
    • MTHFR analysis, such as a targeted mutation analysis, methylation analysis or detox profile

    Genes are recipes that provide the instructions for how our bodies work. The instructions are spelled out using 4 letters, A, T, G, or C, called nucleotides. The 23andMe uses looks for specific typos in the gene instructions . This approach to testing, called genotyping, is not designed to identify all potential variants.

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    How To Test For Rheumatoid Factor

    Immunology of the rheumatoid joint

    Testing for rheumatoid factor is done through a blood test. The blood is drawn then analyzed for the presence of this particular protein. If the results show a certain level of rheumatoid factor, then the test is said to be positive. Rheumatoid factor tests can also detect lower levels of rheumatoid factor, but the test result is not considered positive unless it crosses that threshold.

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    How Rheumatoid Factor Affects Prognosis

    Determining a prognosis for rheumatoid arthritis patients can be a complicated process. The disease affects different people in different ways. A prognosis can depend largely on the type and severity of symptoms the patient displays, as well as their medical history.

    Many doctors and researchers feel that a positive rheumatoid factor test result may predict a more severe pattern of symptoms and overall disease course. Extra-articular symptoms like rheumatoid nodules may be more likely to form in patients who have positive rheumatoid factor blood test results. Other aggressive symptoms, though rare, could be more likely to occur in rheumatoid factor positive patients. These may include symptoms due to an autoimmune effect on the lung and heart.

    Rheumatoid factor-positive patients may also have a higher disease activity score, meaning frequent flare-ups and fewer remission periods.

    Keep in mind this isnt always the case. If rheumatoid factor is tested and symptoms are detected early, a diagnosis can be quickly reached. Early diagnosis means treatment can begin sooner, hence preventing further progression of joint damage, swelling and pain.

    Is Exercise Good For Rheumatoid Arthritis

    • Physical activities like stretching, strengthening and aerobic exercises are all vital for managing RA. One can stretch their muscles before performing daily chores like gardening, etc.
    • Tai Chi especially is proven to relieve stiffness and improve their balance and strength.
    • Low-impact aerobic exercises that put a minimal impact on the affected joints, such as aerobic dance, walking, stationary bicycles, and water exercises are recommended.
    • Resistant exercises like machines, elastic bands, and free weights can help strengthen muscles.
    • Swimming can also be considered good for RA patients since the water supports the body and limits the amount of stress on the joints and makes muscles stronger.
    • Weight-bearing exercises can be helpful for preserving bones.

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    How Quickly Does Rheumatoid Arthritis Develop

    RA typically begins in an insidious manner with signs and symptoms developing slowly over weeks to months.

    The patients notice stiffness in joints usually accompanied by pain while moving and tenderness in the joints.

    From time to time, patients experience symptoms developing in multiple joints within 24-48 hours.

    In another pattern of development, the patients might experience swelling in either or both the joints which may last for a few days to weeks and then completely disappear to return later in some other joints in such a way that it gets worse over time.

    What Is The Correlation Between Rheumatoid Arthritis And Cystic Fibrosis

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    RA can cause chronic joint pain and affect other organs like the lungs and cause severe breathing problems.

    Also, using anti-inflammatory medication can increase a person’s risk of developing pulmonary fibrosis.

    Although the link between RA and cystic fibrosis isn’t fully understood, it is estimated that about 40% of RA patients have pulmonary fibrosis.

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    What Are The Complications Of Ra

    Rheumatoid arthritis has many physical and social consequences and can lower quality of life. It can cause pain, disability, and premature death.

    • Premature heart disease. People with RA are also at a higher risk for developing other chronic diseases such as heart disease and diabetes. To prevent people with RA from developing heart disease, treatment of RA also focuses on reducing heart disease risk factors. For example, doctors will advise patients with RA to stop smoking and lose weight.
    • Obesity. People with RA who are obese have an increased risk of developing heart disease risk factors such as high blood pressure and high cholesterol. Being obese also increases risk of developing chronic conditions such as heart disease and diabetes. Finally, people with RA who are obese experience fewer benefits from their medical treatment compared with those with RA who are not obese.
    • Employment. RA can make work difficult. Adults with RA are less likely to be employed than those who do not have RA. As the disease gets worse, many people with RA find they cannot do as much as they used to. Work loss among people with RA is highest among people whose jobs are physically demanding. Work loss is lower among those in jobs with few physical demands, or in jobs where they have influence over the job pace and activities.

    Hla Typing In Transplantation

    The human leukocyte antigen system plays an essential role in the regulation of the bodys immune system to counteract pathogens through antigen presentation and the recognition of self and nonself. HLA matching remains a standard immunologic strategy to determine organ compatibility for recipients. HLA genotyping has a significant role to play in solid organ transplantation , in hematopoietic stem cell transplantation , and in transfusion practice for platelet refractoriness patients.15 The determination of the alloantibodies before transplant is useful for the estimation of risk for antibody-mediated rejection. Crossmatching is used to detect anti-HLA antibodies and allows exclusion of donors with unacceptable HLA antigens. Advancements in tissue typing have introduced HLA matching at the epitope level. HLAMatchmaker is a computer algorithm that determines HLA compatibility between donors and recipients by assessing the 3-dimensional molecular modeling of the epitope-paratope interfaces of antigen-antibody complexes. Even though there are ambiguities with regards to the clinical significance of immunogenic epitopes and identification of immunogenic epitopes remains a work in progress, clinical application of epitope matching in transplantation has been implemented.

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