Singapore — Scientists from A*STAR’s Genome Institute of Singapore (GIS) and Shandong Academy of Medical Sciences have discovered six new genes that influence the risk of contracting leprosy. The discovery brings the total number of known genes linked to leprosy to 16 and helps to advance the development of genetic screening for highly susceptible individuals to the disease. The finding is based on a study of over 8,300 Chinese patients and reported in the scientific journal Nature Genetics.
Human genes come in pairs and an individual can theoretically carry 32 copies of the detrimental genes from the 16 known to increase the risk of contracting leprosy. The scientists found that if a person carries one detrimental gene for leprosy, the risk of developing leprosy increases by 20 to 50 per cent. For those who carry 20 or more detrimental genes (about 10 per cent of the population), they face eight times more risk of contracting leprosy as compared to people carrying 12 or less detrimental genes (about 12 percent of population).
The ability to predict one’s risk of contracting leprosy can help guide decisions made by public healthcare policymakers when drafting preventative measures for high-risk medical staff working in close contact with leprosy patients. The possibility of developing a genetic test to screen for high-risk individuals to leprosy can also prevent disease spread through early detection. Individuals who are infected with leprosy may not be aware of their condition and unconsciously spread the disease to others, as symptoms of leprosy do not usually appear till after five to 20 years of the initial infection.
The scientists believe the study can also contribute to understanding the biology of autoimmune and inflammatory diseases. They found the same genes linked to leprosy susceptibility also affect the level of aggression expressed by the immune system observed in autoimmune and inflammatory diseases. A person with an overly-aggressive immune system may have a good defence against infection, but stands a higher risk of developing autoimmune diseases where one’s own white blood cells attack healthy cells that can lead to death in severe cases.
“Although commonly viewed as a medieval affliction, leprosy remains a major health problem in developing countries, claiming over 200,000 new patients worldwide annually with two to three million people permanently disabled,” said Prof Jianjun Liu, GIS’ Deputy Director for Research Programmes and senior author of the study. “With the discovery of more gene variants that affect the risk of developing leprosy, we can develop better diagnostic, treatment and preventive strategies to one day eradicate leprosy permanently.”
Co-senior author Prof Furen Zhang, Research Director at the Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences said, “Currently, it is not possible to do early diagnosis and preventative treatment for leprosy. Our findings will help to make it happen”.
“The study is exemplary of GIS’ efforts to contribute to better diagnosis, treatment and management of leprosy through our research in genomic science,” said Prof Ng Huck Hui, Executive Director, GIS.
Notes to Editor:
The research findings described in the media release can be found in the Nature Genetics journal, under the title, “Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy” by Hong Liu1,2,3,4,16, Astrid Irwanto5,6,16, Xi’an Fu2,4, Gongqi Yu2,4, Yongxiang Yu2,4, Yonghu Sun2,4, Chuan Wang2,4, Zhenzhen Wang2,4, Yukinori Okada7,8,9, Hui Qi Low5, Yi Li5, Herty Liany5, Mingfei Chen2,4, Fangfang Bao2,4, Jinghui Li2,4, Jiabao You2,4, Qilin Zhang3, Jian Liu2,4, Tongsheng Chu2,4, Anand Kumar Andiappan10, Na Wang2,4, Guiye Niu2,4, Dianchang Liu2,4, Xiulu Yu2,4, Lin Zhang2,4, Hongqing Tian1,11, Guizhi Zhou2,4, Olaf Rotzschke10, Shumin Chen2,4, Paul W.I.B. de Bakker8,9,12,13, Xuejun Zhang,14,15,17, Jianjun Liu5,6,17, Furen Zhang2,3,4,11,17
1. Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, China.
2. Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, China.
3. School of Medicine, Shandong University, Jinan, China.
4. Shandong Provincial Key Lab for Dermatovenereology, Jinan, China.
5. Human Genetics, Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.
6. Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
7. Division of Rheumatology, Immunology and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA.
8. Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA.
9. Program in Medical and Population Genetics, Broad Institute, Cambridge, USA.
10. Singapore Immunology Network, Singapore, Singapore.
11. National Clinical Key Project of Dermatology and Venereology, Jinan, China.
12. Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands.
13. Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
14. Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
15. The Key Laboratory of Gene Resource Utilization for Severe Diseases, Ministry of Education and Anhui Province, Hefei, China.
16. These authors contributed equally to this work.
17. Shared senior authors.
For media queries and clarifications, please contact:
Ms Winnie Lim
Head, Office of Corporate Communications
Genome Institute of Singapore, A*STAR
Tel: +65 6808 8013
Email: limcp2@gis.a-star.edu.sg
About the Genome Institute of Singapore (GIS)
The Genome Institute of Singapore (GIS) is an institute of the Agency for Science, Technology and Research (A*STAR). It has a global vision that seeks to use genomic sciences to achieve extraordinary improvements in human health and public prosperity. Established in 2000 as a centre for genomic discovery, the GIS will pursue the integration of technology, genetics and biology towards academic, economic and societal impact.
The key research areas at the GIS include Human Genetics, Infectious Diseases, Cancer Therapeutics and Stratified Oncology, Stem Cell and Regenerative Biology, Cancer Stem Cell Biology, Computational and Systems Biology, and Translational Research.
The genomics infrastructure at the GIS is utilised to train new scientific talent, to function as a bridge for academic and industrial research, and to explore scientific questions of high impact. For more information about GIS, please visit: www.gis.a-star.edu.sg
About the Agency for Science, Technology and Research (A*STAR)
The Agency for Science, Technology and Research (A*STAR) is Singapore’s lead public sector agency that fosters world-class scientific research and talent to drive economic growth and transform Singapore into a vibrant knowledge-based and innovation driven economy.
In line with its mission-oriented mandate, A*STAR spearheads research and development in fields that are essential to growing Singapore’s manufacturing sector and catalysing new growth industries. A*STAR supports these economic clusters by providing intellectual, human and industrial capital to its partners in industry.
A*STAR oversees 18 biomedical sciences and physical sciences and engineering research entities, located in Biopolis and Fusionopolis, as well as their vicinity. These two R&D hubs house a bustling and diverse community of local and international research scientists and engineers from A*STAR’s research entities as well as a growing number of corporate laboratories. For more information about A*STAR, please visit: www.a-star.edu.sg
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