What causes AS?
We know there is a strong association between AS and a gene called HLA B27. In white western Europeans about 8% carry this gene. Although HLA B27 is present in over 95% of people with AS, only about 1 in 15 people who are HLA B27 positive go on to develop AS. This means that this gene alone is not responsible for people developing AS but must contribute towards it.
A lot of genetic research is going on around the world and researchers have discovered that at least 20 other genes must be involved. We believe that if someone also carries enough of these linked genes, their susceptibility to developing AS will be higher. One gene of interest is called ERAP1 and some variants of this gene may even protect against developing AS.
What is the risk of passing it on to my children?
If you have AS and you do carry the HLA B27 gene then there is a 50% chance your child will inherit the gene. On average the child of someone with AS has an 8% chance of developing the condition. However if the child has inherited the HLA B27 gene this risk doubles to about 15%.
The risk is much lower (probably less than 1 in 20) if it was a grandparent or uncle who was affected in the family.
Overall, there is a much greater chance that a child will not develop AS.
Genetic research in AS
Funded by the Wellcome Trust, the Oxford Genetic Research Programme is aiming to identify all the genes associated with AS. Two genes have already been identified from what may be as many as 20 different genes. Genetic research is the way forward to improved understanding of AS and, hopefully, to better treatments.
NASS members have already contributed around 3,000 DNA samples to assist with this research. Everyone with AS is urged to take part: click here to find out more.
Click here if you would like to read a more detailed article on genetics by Paul Wordsworth, Professor of Rheumatology at the University of Oxford Institute of Musculoskeletal Sciences. This is a copy of an article which appeared in Spring 2010 AS News.
Last reviewed: November 2011