S''pore, China Scientists Perform Study On Spine Disease

SINGAPORE, Dec 5 (Bernama) -- Scientists from Singapore and China have identified new genes that are associated with the spine disease ankylosing spondylitis (AS). This discovery, reported in the advanced online issue of Nature Genetics on Dec 4, 2011, brings scientists closer to understanding the disease and work towards finding a cure. The team was headed by Dr Liu Jianjun, Senior Group Leader and Associate Director of Human Genetics at the Genome Institute of Singapore (GIS) and Dr Gu Jieruo, a rheumatologist at the 3rd Affiliated Hospital of the Sun Yat-Sen University, AS is a progressive autoimmune disease characterised by the inflammatory low back pain, partly accompanied by peripheral arthritis, enthesis, iritis and even spinal deformity and ankylosis. It can cause eventual fusion of the spine, a condition known as “bamboo spine”. Its prevalence is 2.4 per 1,000 in the Chinese population, similar to that in populations of European ancestry. Genetic factors play an important role in the pathogenesis of AS and the estimated heritability is over 90 per cent. The gene HLA-B27 had previously been shown to be strongly associated with AS susceptibility, but it confers only 20-30 per cent of the overall genetic risk. In order to identify other genetic susceptibility genes for AS, Drs Liu and Gu and their collaborators carried out a large genome-wide association study of AS in Chinese Han population. Initially, they performed a comprehensive genome-wide analysis of common genetic variants in 1,837 AS patients and 4,231 controls. Dr Liu said: “AS is an autoimmune disease, and the association of HLA-B*27 is not surprising. "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.” The GIS is a research institute under the umbrella of the Agency for Science, Technology and Research. -- BERNAMA