SCIENTISTS from Singapore and China have discovered new genes linked to a common spine disease.
The two genes, related to bone formation and cartilage development, will bring scientists a step closer to understanding the disease and working on a cure.
Those who suffer from this spine disease – ankylosing spondylitis – get lower back pain and arthritis.
It can also gradually lead to joint stiffness and even deformity. This may also mean an eventual fusion of the
spine, a condition described by doctors as “bamboo spine”, where the spine becomes stiff and unbending.
The disease strikes 2.4 out of 1,000 Chinese – similar to that in populations of European ancestry.
It is also mostly hereditary – 90 per cent of sufferers are estimated to inherit the disease. The research team is led by Dr Liu Jianjun, a senior group leader and associate director of human genetics at the Genome Institute of Singapore, a research institute under the umbrella of the Agency for Science, Technology and Research; and Dr Gu
Jieruo, a rheumatologist at the Third Affiliated Hospital of the Sun Yat-sen University in China.
The scientists did a large genome-wide association study of the Chinese Han population in China. First, they did a genome-wide analysis of common genetic variants in more than 1,800 patients with the disease, and over 4,200 non-patients as controls.
They then narrowed it down to 30 genes for a validation study in an additional 2,100 patients, and more than 3,400 non-patients as controls. The two susceptibility genes related to bone formation and cartilage development were then found. Dr Liu said: “It indicates that other mechanisms, such as bone formation and cartilage development,
also play an important role in ankylosing spondylitis.” Their findings were reported in the advance online
issue of international science journal Nature Genetics yesterday.