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14 Responses to “Direct to Consumer Genetics of Rheumatoid Arthritis (RA)”

    1. Becky Smith says:

      This is so interesting, thank you for taking the time to do this for us. My mother has RA as well as my older sister and myself. I seem to have it the worst, many more joints involved. I was a smoker for many years, wonder if that was the difference? I quit two years ago before I was diagnosed, started again for a few months earlier this year, and quit again back in March. My pain was worse while I was smoking. Sure hope they come up with a cure soon, I have a daughter and two grand daughters. Don’t want them to deal with this misery.

      • Bob West says:

        Becky,
        Sorry to hear about your FH of RA. It does not surprise me at all, however, that your symptoms are worse than your other family members after years of smoking, the #1 environmental cause of RA incidence as well as disease severity. Kelly can probably refer you to her prior posts on this topic; it’s certainly an issue that all #Rheum Docs should be fully aware of. I’m not an M.D., but with a FH of RA your kids are at increased risk. Above all, they should be alerted to the increased complications of the Genes X Environment combo of RA & smoking.

        -Bob

        • Becky Smith says:

          Thank you for the reply. If I am understanding correctly, smoking caused my RA to be more involved(more joints affected) or does it cause RA to be more painful ? And should the severity and pain decrease once you stop or is the damage permanent?

          I do feel my pain was worse when I started again and seemed to improve when I quit. But when you deal with a constant level of pain sometimes it is hard to tell how much… I am angry at myself for causing this to happen but I will take from this that I can warn my daughter and grand daughters to stay away from smoking.

          • Dear Becky,
            I hope it’s ok if I comment. First of all, I don’t think anyone could know for sure what the future will be like with RA flares. There are studies that say smoking makes RA worse and makes treatment less effective, so quitting could help people who already have RA, like you said you probably noticed. I am so sorry you are dealing with these feelings on top of the stupid disease. Please don’t be too hard on yourself.

            Also, you can’t know for sure that your smoking was the only trigger for your RA to start. There is more than 1 trigger since there are folks who have RA who have not smoked. True, the message is this teaches us is: we should not smoke. But no one would say this is all your own fault, since there are genetic factors that were beyond your control. How many smoke and do not get RA? Back when you started, you had no idea that you could have been contributing to this.

            • Becky Smith says:

              Kelly, thank you for your concern. I’ll work through it but yes, it is hard to face that you have done something that could have caused you to suffer for the rest of your life. It is tough enough to deal with the lack of understanding from those around you.

              One thing I think it means though is that it could be one of the reasons that the medication is not helping me like my Dr. thinks it should. Another reason is that my Dr. is fairly new and is treating by the book, glad he is gone and I get a new one next time I go. Keeping my fingers crossed(mentally cause I really can’t do that now!)that I get a Dr. that is more flexible.

          • Bob West says:

            Becky,
            Glad Kelly spoke first since her knowledge of RA is obviously much broader and deeper than mine, but I’m also confident her answer to your question is right on the money! I thought what I might do to contribute is to provide a key reference on the issue of RA genes X environment. The attached link is to a paper entitled “Environmental influences on risk for rheumatoid arthritis” by Elizabeth Karlson, a key investigator on RA, and this paper is perhaps one of the seminal reviews on this topic: http://www.ncbi.nlm.nih.gov/pubmed/19318947. Fortunately, it’s also freely available from PubMed Central (tab on upper right when you open the link). Although this review is now 2 years old, environmental determinants is one of the slowest moving areas of RA research, similar to most other areas of chronic disease investigation. Thus, you may still be left with unresolved questions about “what might be” and “what might have been”.

            • Becky Smith says:

              Thank you for the link, very interesting that it mentions “the highest risk of seropositive RA was in heavy smokers who carried two copies of the shared epitope with evidence for multiplicative interaction.” I am seronegative. I do wonder however since I have only been tested twice and both times was after heavy does of steroids, if the test was accurate. My RA was verified by ultrasound. I am also 55 so onset was at an older age.

              I don’t want to obsess with this. However I do feel I owe it to myself to research and try to understand what is going on with my body. And again what I learn might help my family to avoid having this happen to them.

    2. Dana says:

      Thanks again for taking the time write all of this out for the benefit of others (especially those of us with non-science backgrounds!). How amazing that you can get such detailed genetic information about yourself! I’m very curious what my results would show. Interesting about the presumed contribution of genetic vs. environmental factors influencing RA disease manifestation…I wonder what other environmental factors might play a part besides smoking? I look forward to your subsequent posts in this series!

      • Bob West says:

        Thanks Dana. Smoking is the really big environmental determinant that affects RA, both increased incidence and increased severity once initiated. At some point I will try to provide refs. (I have here, just too tired to check right now :-/ ). Unfortunately, few other environmental factors have been convincingly shown to be associated with RA. This is a big black box area for future investigation, and IMO will be more difficult to sort out than the genetic contributions to RA.

        -Bob

    3. […] genetic testing for a cost (e.g. https://www.23andme.com). Kelly at RA Warrior wrote an informative blog about consumer testing last year.  I would prefer to engage in a scientific study and I plan to […]

    4. Katy says:

      Hi Kelly,
      This is an old article, and many more SNPs have been associated with the risk of developing RA. If you haven’t already, you might consider uploading your raw data from 23 and me to https://promethease.com
      It will compare your DNA against scientific findings. It is fascinating, and you can come to your own conclusions by reading the relevant scientific studies.
      BTW, I loved your book!

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