GENETIC TESTING

[greg31]

just curious if anyone has had genetic testing done? I ask cause I have a cystic fibrosis gene mutation as I'm a carrier I dont have cf. I found out with my first kid as she is a carrier like me. And I know scientists dont know the exact cause of vasculitis but wondering if anyone else has an altered gene?

[PMRpro]

i don't think there is an altered gene in the same way there is for cf. There is a genetic component to some forms of vasculitis - giant cell arteritis for example is found to be more common in populations with Scandinavian forebears and it is more common further north in Europe, the incidence falling as you move further south. But there could be other reasons besides the genetic history. But that isn't the same thing.

[greg31 in reply to PMRpro]

what I was thinking is that if my genes are already prediposed then probably more likely to have other complications like vasculitis.

[PMRpro in reply to greg31]

There are millions of Scandinavians who don't have any forms of vasculitis. It is generally a combination of things, not just one factor, and they haven't worked out any particular thing that could be blamed. They are probably not entirely the same for different forms of vasculitis - but how someone's immune system responds may vary. Still very much a work in progress unfortunately.

[Hidden]

There are multiple genes involved in Vasculitis and environmental triggers are just as important. HLA B51 can be associated with Behcets Syndrome but more often in people who stay along the old Silk Road trading route. You can be be negative for HLA B51 and still develop Behcets.

I am positive for HLA B27 which is associated with Spondyloarthropathy ( which I have ) but 10% of the population carry this gene, not everyone will develop Spondyloarthropathy. I don't think that genetics carry all the answers for patients with Vasculitis unfortunately.

[Jools52]

I am going through the process of getting a definite diagnosis for GPA/Wegeners and have to go to the Free London hospital to have genetic tests for something called periodic fever syndrome so I will watch this thread with interest

[greg31]

has anyone signed up for research agencies? I know when I went to the head vasculitis clinic they looked at me like I was the rarest specimen and wanted me to sign up for all these research agencies? Anyone else dig up??? If so do you hear back from them cause I know it had to do with genetics.