SINGAPORE - Singapore and China scientists have identified two new genes that are associated with the spine disease ankylosing spondylitis (AS), bringing scientists a step closer to understanding the disease and developing a cure.
AS is a progressive autoimmune disease characterised by inflammatory low back pain, and can cause eventual fusion of the spine.
The disease strikes 0.24 per cent of the Chinese population and is genetically inheritable, with an estimated heritability of over 90 per cent.
The gene HLA-B27 was previously found to be linked to AS susceptibility.
In order to identify other AS genes, the researchers carried out a large genome-wide study in the Chinese Han population.
They first performed a genome-wide analysis of common genetic variants in 1,837 AS patients and 4,231 control patients without the disease.
After which they selected 30 genes for a validation study in an additional 2,100 patients and 3,496 controls.
The researchers discovered two new AS genes - EDIL3-HAPLN1 on 5q14.3 and ANO6 on 12q12 - which are related to bone formation and cartilage development. This suggests their potential involvement in the development of AS, the researchers said.
"Our study confirms the important role of the immunity, but more importantly, it indicates that other mechanisms, such as bone formation and cartilage development also play an important role in AS," said Dr Liu Jianjun, Senior Group Leader and Associate Director of Human Genetics at the Genome Institute of Singapore (GIS).
The study was headed by Dr Liu and Dr Gu Jieruo, a rheumatologist at the 3rd Affiliated Hospital of the Sun Yat-Sen University.