Understanding the role of the NOS2 gene in ankylosing spondylitis

Disease - Ankylosing spondylitis

Lead applicant - Dr. Matteo Vecellio

Organisation - University of Oxford

Type of grant - PhD Scholarship

Status of grant - Active

Amount of the original award - £156,610.04

Start date - 1 October 2019

Reference - 22198

Ankylosing spondylitis has been linked with more than 100 possible genetic causes, but the way these potential causes work is not yet fully understood. The research aims to build upon existing evidence that the NOS2 gene plays a role in ankylosing spondylitis, with a view that this knowledge can help to developing new treatments.

Why is this research important?

Ankylosing spondylitis is a severe type of arthritis that affects the joints around the spine, often starting in people who are in their late teens or 20s.

Previous genetic research has shown that the NOS2 gene is linked to the development of ankylosing spondylitis, possibly involved in the processes leading to abnormal inflammation which leads to tissue damage. The research team will compare tissue samples from people with ankylosing spondylitis to healthy tissue, looking at variations in NOS2 gene to understand its involvement in the condition. The team will also look at associated genes to see the knock-on effect of the NOS2 gene variations, and to observe changed in proteins that may cause the inflammation associated with the condition.

How will findings benefit patients?

Ankylosing spondylitis mainly causes stiffness and pain in the neck and back but may affect other parts of the body. Improving understanding of how the NOS2 gene is regulated and how it is connected to ankylosing spondylitis could allow researchers to find targets for new treatments. If targets are found, new drug treatments could be developed and tested to improve the lives of people with the condition.