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Joined: Apr 2013
Posts: 372
Fifth_Degree_AS_Kicker
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Fifth_Degree_AS_Kicker
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Posts: 372
Yes I was diagnosed in 1986. The symptoms over those years (outside of low activity) are the typical of low back pain, bilateral SI pain that goes back and forth (narrowing joint), severe buttock pain, peripheral issues in the shoulder, hip and foot (heel and ankle), suspected enthesitis in both feet (said by a GP), IBS, diverticulosis, history of conjunctivitis (possibly associated), history of anemia, low Vitamin D levels, iron, etc. Much of this started as a pre-teen but years of doctors that called it imaginary to jealousy of sibling to growing pains it was dismissed over and over.

As an adult it got so bad I could not walk, lay still or stand in one place. It had affected my neck and shoulder and my spine has fractured in four places (just from a fall in my home on level ground). SED and CRP are essentially normal but 50% of cases are....inflammation was clear in my neck but that was seen by my Neurosurgeon. Stiffness and severe reduction in range of motion in most joints....it just goes on and on.

THE BIGGEST PROBLEM is that unless I was under constant care before moving here, the response I've gotten is there is no urgency to be seen.

Joined: Apr 2013
Posts: 372
Fifth_Degree_AS_Kicker
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Fifth_Degree_AS_Kicker
Joined: Apr 2013
Posts: 372
I am on meds but ones that are not specific to treat Spondylitis but for pain from a slipped disc, thoracic fractures and osteoarthritis. I have been taking anti-inflammatories for years, gradually stepping up to Celebrex but MRI are still showing inflammation so clearly it's not controlling it.


Joined: Apr 2013
Posts: 372
Fifth_Degree_AS_Kicker
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Fifth_Degree_AS_Kicker
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Posts: 372
I can't get the meds because they need to come from a Rheumatologist which I can't get in to see. I have tried the NSD and didn't see any improvement.


Joined: Apr 2013
Posts: 372
Fifth_Degree_AS_Kicker
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Fifth_Degree_AS_Kicker
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Posts: 372
It's not that I can't see one, I have an appointment however, without a 'transfer' from an existing practice, the wait time was 8 months.

In the interim, I just have to wait.

Joined: Apr 2013
Posts: 372
Fifth_Degree_AS_Kicker
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Fifth_Degree_AS_Kicker
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Posts: 372
I could IF I could get someone to take me. We don't have many in this area but I have called all, some several times asking if they would consider accepting my insurance or allowing me to pay separately but most don't want to take on a patient that is in their care that needs them and then tells them they can't pay (not that I would pull that but some have so they don't like to consider it).


Joined: Sep 2007
Posts: 608
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Master_Sergeant_AS_Kicker
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Joined: Sep 2007
Posts: 608
Hi jroc,

Thanks for posting those two references.

I've listed a paragraph from the first paper and it reads ...
"As expected, SNPs in the MHC on chromosome 6p were strongly associated with ankylosing spondylitis (rs7743761 P = 5.0 × 10 to the power of -304). Association was evident across a very broad region surrounding the MHC, including five SNPs lying in a 153-kb region at 26.0–26.1 Mb from the p-telomere (5.4 Mb from HLA-B), which achieved P < 10−5. The most associated SNP in this region was rs3734523 (P = 1.6 × 10−6). However, conditional logistic regression analysis suggested that this was unlikely to represent a separate independent association because conditioning on five of the most significant SNPs from the MHC (rs7743761, rs2596501, rs3915971, rs2516509, rs1265112) caused the association to disappear (P = 0.27)."

This indicates that rs7743761 is on Chromosome 6 - which contains the MHC and specifically HLA B antigens. It becomes very difficult to identify independent risks factors (that is other than B27) on Chromosome 6 because of the concept of linkage disequilibrium.

Put simplistically, if there is a high risk SNP on or near the MHC on chromosome 6, the association with AS might disappear if you can somehow control for the presence or absence of HLA B27.

For a discussion on linkage disequilibrium refer to Wikipedia.


Dx Oct 2006 B27+ undifferentiated spondlyarthropathy (uSpA) with mild sebhorrhoeic dermatitis and mild Inflammatory Bowel Disease (IBD) controlled by NSD since 2007.
Joined: Sep 2007
Posts: 608
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Master_Sergeant_AS_Kicker
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Interestingly, some of the most significant non-MHC SNPs encode variants with a loss of function that confers protection against developing disease (eg. IL23R R381Q and ERAP1 rs30187).
Currently the number of AS-associated gene loci is about 30 and intriguingly many of these genes congregate along an immunomodulatory pathway.


Dx Oct 2006 B27+ undifferentiated spondlyarthropathy (uSpA) with mild sebhorrhoeic dermatitis and mild Inflammatory Bowel Disease (IBD) controlled by NSD since 2007.
Joined: Oct 2008
Posts: 758
Magical_AS_Kicker
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Magical_AS_Kicker
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Thanks David, that's interesting to know there can be links between SNPs and different genes. I guess that's one of the main issues with having access to these sort of tests - without expert interpretation you can end up with a lot of data, but not much information.

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Posts: 608
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Master_Sergeant_AS_Kicker
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Hi jroc,

I found this paper that you might find of interest since you've gone to the trouble of getting a genome scan.

http://reumatologie.medica.ro/reviste_med/download/reumatologie/2015.2/Reumato_Nr-2_2015_Art-5.pdf

The aim of the study was to investigate whether two ERAP1 nsSNPs non-synonomous Single Nulceotide Polymorphisms)- namely rs30187 and rs27044, influence the clinical characteristics of AS; in particular with respect to Age of Onset (arbitrarily set as <30 or >30) and whether or not the patient has Axial disease or Mixed disease (defined as axial AND peripheral manifestations)

Firstly, it is current consensus that the association of ERAP1 variants with AS is valid ONLY for HLA-B27 positive patients, but NOT for HLA-B27 negative ones.

The study found that there was association between the studied ERAP1 variants and the development of early onset AS.
So if you are HLAB-27+ but lack either of the two studied ERAP1 variants then you will probably develop late onset AS.

When restricting yourself to look at only AS sufferers who are HLA-B27+ early-onset patients, the study found that the rs30187 ERAP1 variant is associated with Axial-only group whilst the rs27044 ERAP1 variant is associated with the Mixed group (that axial AND peripheral symptoms).


Dx Oct 2006 B27+ undifferentiated spondlyarthropathy (uSpA) with mild sebhorrhoeic dermatitis and mild Inflammatory Bowel Disease (IBD) controlled by NSD since 2007.
Joined: Oct 2008
Posts: 758
Magical_AS_Kicker
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Magical_AS_Kicker
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Posts: 758
Thanks David, that's really interesting.

I'm HLA-B27+, early onset (20 years), mixed - axial and peripheral. And I have:

Rs30187(C;T) - http://www.snpedia.com/index.php/Rs30187(C;T)
Rs27044(C;G) - http://www.snpedia.com/index.php/Rs27044(C;G)

So if I'm reading the study correctly I have an Rs30187 allele that is associated only with the axial form, and a Rs27044 allele that is associated with the mixed form. And both of those are also associated with early onset.

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