Sunday, 7 October 2012

Dupuytren Diathesis and Genetic Risk

I have been saying over my last couple of posts that there is a paper that I would like to cover but I could not get access to it. Well I have tried through all my normal channels and I am unable to view this paper with any of the accounts that I have. So as usual I am going to try and do the best job that I can from the information that I can get access to. 


In this paper they are looking at various different SNPs that have been associated with Dupuytren's. SNPs are individual changes in the DNA code so for example in a specific part of the DNA code one person may have AAAA and another may have AAAT and this change may be associated with certain disease etc. In this paper they have a set of 9 of these changes that they are looking at as they have been link to DD and to see whether they are linked to certain clinical characteristics such as the manner of the DD and I believe other things such as Ledderhose. 

They use a large pool of patients (over 1000) and score each of these for their genetic risk based on the 9 SNPs mentioned above. What they showed from this was that patients that had onset below 50 years old, a family history of DD, knuckle pads and Ledderhose all showed up in the high genetic risk group. The actual wording is not clear but I am guessing due to the number of patients that it is if you have any of the above and DD then you are likely to fall into the high genetic score group. I am hoping that as I only have LD below the age of 50 that I do not have a high genetic predisposition. 

Other than that I am not able to tell a whole lot from the information that is freely available.

There should be another post on the way tomorrow or Tuesday so make sure to stay tuned :-)