PRESS RELEASE:
Singapore and China scientists perform large Asian genome-wide association study on kidney disease
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 Yu Xueqing, a nephrologist at the 1st Affiliated Hospital of the Sun Yat-Sen University, have identified new susceptibility genes for the kidney disease Immunoglobulin A Nephropathy (IgAN). This discovery, reported in the advance online issue of Nature Genetics on 25 December 2011, brings scientists closer to understanding the disease and working towards its cure.
IgAN is a kidney disease characterized by the deposit of IgA in the mesangial area of glomeruli. Disease prevalence among Asians is as high as 3.7%, less common in Caucasian population (up to 1.3%) and very rare among individuals of African ancestry. It is the most common cause of kidney failure among Asian populations, 15-40% of the patients end up on dialysis or require kidney transplants. The pathogenesis of IgAN is not clear, but both genetic and environmental factors likely contribute to its development.
In order to identify susceptibility genes for IgAN, Drs Liu and Yu and their collaborators carried out a large genome-wide association study of IgAN in Chinese Han population. First, they performed a comprehensive genome-wide analysis of common genetic variants in 1434 patients and 4270 controls. Subsequently, they investigated 61 regions of human genome for a validation study in 2703 patients and 3464 controls. The researchers discovered two novel susceptibility genes,TNFSF13 on 17p13 and DEFA on 8p23 as well as several HLA alleles and haplotypes within MHC region that are associated with IgAN development. They further found that the risk variants within MHC could also influence the clinical symptoms of IgAN patients. The newly discovered susceptibility loci implicate the genes related to innate immunity and inflammation, suggesting their important role in the development of IgAN. Their study also confirmed the previously reported susceptibility locus on 22q12 in Chinese and European populations.
Dr Liu said: “The discovery of the new disease susceptibility loci is a major breakthrough of IgAN research. It is interesting to see that some genetic variants can influence both susceptibility and clinical presentation of the disease.” Dr Yu added: “These findings offer us opportunities to identify important biological pathways involved in IgAN development and further explore novel approaches to intervene and thus prevent affected patients from developing severe kidney damage.”
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 25 December 2011 advanced online issue of Nature Genetics under the title “A Genome-wide Association Study in Han Chinese Identifies Multiple Susceptibility loci for IgA Nephropathy”.
Xue-Qing Yu1,13, Ming Li1,13, Hong Zhang2,13, Hui-Qi Low3, Xin Wei1, Jin-Quan Wang4, Liang-Dan Sun5, Kar-Seng Sim3, Yi Li3, Jia-Nee Foo3, Wei Wang1, Zhi-Jian Li1, Xian-Yong Yin5, Xue-Qing Tang1, Li Fan1, Jian Chen6, Rong-Shan Li7, Jian-Xin Wan8, Zhang-Suo Liu9, Tan-Qi Lou10, Li Zhu2, Xiao-Jun Huang11, Xue-Jun Zhang5, Zhi-Hong Liu4, Jian-Jun Liu3,12
1. Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China;
2. Renal Division, Peking University First Hospital, Peking University, Institute of Nephrology, Beijing, China;
3. Human Genetics, Genome Institute of Singapore, Singapore;
4. Department of Nephrology, Nanjing General Hospital of Nanjing Military Command, Nanjing, Jiangsu, China;
5. Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China;
6. Department of Nephrology, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian, China;
7. Department of Nephrology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China;
8. Department of Nephrology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China;
9. Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China;
10. Department of Nephrology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
11. Department of Hematology, Peking University People's Hospital, Beijing, China;
12. School of Life Sciences, Anhui Medical University, Hefei, Anhui, China;
1. 13. These authors jointly directed this work. Correspondence should be addressed to X.Yu (yuxq@mail.sysu.edu.cn) or J. Liu (liuj3@gis.a-star.edu.sg).
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About the Genome Institute of Singapore
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 improve public health and public prosperity. Established in 2001 as a centre for genomic discovery, the GIS will pursue the integration of technology, genetics and biology towards the goal of individualized medicine.
The key research areas at the GIS include Systems Biology, Stem Cell & Developmental Biology, Cancer Biology & Pharmacology, Human Genetics, Infectious Diseases, Genomic Technologies, and Computational & Mathematical Biology. The genomics infrastructure at the GIS is utilized to train new scientific talent, to function as a bridge for academic and industrial research, and to explore scientific questions of high impact. 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 the lead agency for fostering world-class scientific research and talent for a vibrant knowledge-based and innovation-driven Singapore. A*STAR oversees 14 biomedical sciences and physical sciences and engineering research institutes, and six consortia & centres, located in Biopolis and Fusionopolis as well as their immediate vicinity.
A*STAR supports Singapore's key economic clusters by providing intellectual, human and industrial capital to its partners in industry. It also supports extramural research in the universities, and with other local and international partners. www.a-star.edu.sg