Also Included In: Infectious Diseases / Bacteria / Viruses; Neurology / Neuroscience; Genetics
Article Date: 06 Dec 2011 - 2:00 PST
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Singapore and China scientists, 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, 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, brings scientists closer to understanding the disease and work towards its cure.
AS is a progressive autoimmune disease. It is characterized by the inflammatory low back pain, partly accompanied by peripheral arthritis, enthesis and 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%.
The gene HLA-B27 had previously been shown to be strongly associated with AS susceptibility, but it confers only 20-30% 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. Subsequently, they selected 30 genes for a validation study in an additional 2,100 patients and 3,496 controls. The researchers discovered two novel susceptibility genes, EDIL3-HAPLN1 on 5q14.3 and ANO6 on 12q12. The newly discovered susceptibility loci implicate the genes related to bone formation and cartilage development, suggesting their potential involvement in the development of AS.
Their study also confirmed the previously reported association with HLA-B*27 variants, and the susceptibility locus on 2p15 in European population.
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."
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.Visit our immune system / vaccines section for the latest news on this subject. The GIS is a research institute under the umbrella of the Agency for Science, Technology and Research.
Research publication: The research findings described in the press release can be found in the 4 December 2011 advanced online issue of Nature Genetics under the title “A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis”.
Authors: Zhiming Lin1,24, Jin-Xin Bei2,24, Meixin Shen3, Qiuxia Li1, Zetao Liao1, Yanli Zhang1, Qing Lv1, Qiujing Wei1, Hui-Qi Low4, Yun-Miao Guo2, Shuangyan Cao1, Mingcan Yang1, Zaiying Hu1, Manlong Xu1, Xinwei Wang1, Yanlin Wei1, Li Li1, Chao Li1, Tianwang Li1, Jianlin Huang1, Yunfeng Pan1, Ou Jin1, Yuqiong Wu1, Jing Wu1, Zishi Guo1, Peigen He5, Shaoxian Hu5, Husheng Wu6, Hui Song6, Feng Zhan7, Shengyun Liu8, Guanmin Gao8, Zhangsuo Liu8, Yinong Li9, Changhong Xiao10, Juan Li11, Zhizhong Ye12, Weizhen He12, Dongzhou Liu13, Lingxun Shen14, Anbin Huang14, Henglian Wu15, Yi Tao16, Xieping Pan17, Buyun Yu1, E Shyong Tai18,19, Yi-Xin Zeng2, Ee Chee Ren20,21, Yan Shen22, Jianjun Liu4,23,25 & Jieruo Gu1,25
1. Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
2. State Key Laboratory of Oncology in South China, Sun Yat-sen University Cancer Center, Guangzhou, China
3. Department of Microbiology, National University of Singapore, Singapore
4. Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore
5. Department of Immunology and Rheumatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei, China
6. Department of Rheumatology & Immunology, Beijing Jishuitan Hospital, Beijing, China
7. Department of Rheumatology, Hainan Provincial People’s Hospital, Hainan, China
8. The First Affiliated Hospital of Zhengzhou University, Henan, China
9. Department of Rheumatology, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, China
10. Rheumatology & Immunology Department, Hospital of Integrated Traditional Chinese Medicine & Western Medicine of Southern Medical University, Guangzhou, China
11. Department of Rheumatology, Nanfang Hospital, Southern Medical University, Guangzhou, China
12. Xiangmihu Rheumatology Branch, Fourth People’s Hospital of Shenzhen, Shenzhen Rheumatology Institute of Guangdong Medical College, Shenzhen, China
13. Department of Rheumatology and Immunology, Jinan University Second Clinical Medical College, Shenzhen People’s Hospital, Shenzhen, China
14. Department of Immunology and Rheumatology, Union Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei, China
15. Department of Urology, Dongguan People’s Hospital, Guangdong, China
16. Department of Rheumatology and Immunology, Second Affiliated Hospital of Guangzhou Medical College, Guangzhou, China
17. Department of Rheumatology and Immunology, The First People's Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, Jiangsu, China
18. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
19. Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
20. Singapore Immunology Network, A*STAR, Singapore
21. Department of Microbiology, National University of Singapore, Singapore
22. National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Science and Peking Union Medical College, Tsinghua University, Beijing, China
23. The School of Life Sciences, Anhui Medical University, Hefei, China
24. These authors contributed equally to this work
25. These authors jointly directed this work.
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