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08/11/2020 Interview > Faculty Important News


Discovery of New Causative Gene of Rheumatoid Arthritis

Professor Bae Sang-cheol identified new causative gene for rheumatoid arthritis.


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Rheumatoid arthritis is an autoimmune disease that inflames various joints of the body, typically hands and feet, and possibly also the lungs and blood vessels. Swelling of the joints causes pain and stiffness, and if it persists, fatigue and weight loss will follow. Professor Bae Sang-cheol (Department of Internal Medicine, Department of Medicine) became the first in the world to identify six novel susceptibility loci of the rheumatoid arthritis, and has thus received worldwide recognition. 

Bae is a pioneer in genetic epidemiological studies and the innovative research of rheumatoid diseases underlying precision medicine. Bae's primary research field was rheumatoid arthritis and systemic lupus erythematosus (a similar autoimmune disease) which are both intractable diseases. Since 2000, Bae has conducted genetic epidemiology research in order to determine the causes of the disease.

The aim of the study was to discover the correlation between rheumatoid arthritis and genomic genetic drift. “The analyzation was made possible thanks to the Korean Chip, a genetic chip containing nearly one million bits of Korean genetic information, provided by the dielectric center of the Korea National Institute of Health,” said Bae. Moreover, to better understand the biological mechanisms, the research combined the computational biological analysis about the information on transcriptome, the sum of the RNA expressed in a cell or tissue, and epigenome, the sum of information in the sequence changed by genomes.

Bae succeeded in identifying six new causative genetic drifts of rheumatoid arthritis that had not been reported before, named SLAMF6, CXCL13, SWAP70, NFKBIA, ZFP36L1, and LINC00158. In particular, he found a new causative genetic drift, named SH2B3, which is found exclusively in East Asian patients. “The new finding will allow a deeper understanding of the outbreak mechanism of rheumatoid arthritis, and it will be utilized to predict and diagnose the disease as well as to develop customized treatment for patients in the future,” said Bae.
Professor Bae Sang-cheol (Department of Internal Medicine, Department of Medicine) found six new causative genetic drifts of rheumatoid arthritis.
(Photo courtesy of Bae)

Currently, Bae is working to realize future medical science that will correctly predict and prevent rheumatoid disease. “There is still a lack of research on Asians who suffer from rheumatoid arthritis," explained Bae. "We will continue to study patients' prognoses, drug reactions, and causes of deterioration, beyond simple genetics. I hope our future study will soon be able to compensate for the inadequacy of the current information.”

Hwang Hee-won
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