For the first time in the world, six new rheumatoid arthritis-risk loci (SLAMF6, CXCL13, SWAP70, NFKBIA, ZFP36L1, and LINC00158), and new genetic variants (SH2B3) have been identified that are unique to East Asians, including Koreans.The joint research team, that led by Professor Sang-Cheol Bae of Hanyang University Hospital for Rheumatic Disease and Professor Kwangwoo Kim of Biology Department at Kyung Hee University and participated by the Center for Genomics science at the National Institute of Health and several University hospitals, published “Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis” on July 28 in the online edition of the Journal Annals of the Rheumatic Disease(Impact Factor: 16.102) proved this fact.The study was conducted by closely analyzing genetic variation in the genome of 40,000 Korean patients with rheumatoid arthritis and non-patients, and utilized Korean chip technology developed at the Center for Genomics science of the National Institute of Health.
Furthermore, the researchers further investigated the involvement of rheumatoid arthritis-related genetic mutations in lung and small intestine tissues as well as existing known immune tissues through computational biological analysis based on rheumatoid arthritis-related genetic mutations and transcripts and epigenetic information.
Rheumatoid arthritis is an autoimmune disease caused by an abnormal attack of the body tissues by the immune system. It causes chronic inflammation and pain in joints or surrounding connective tissues, and if it worsens, it can lead to permanent disability or organ damage due to joint deformity. Rheumatoid arthritis, which has a high prevalence rate, lowers the quality of life of patients and is a disease with a large economic burden due to continuous medical expenses. It is known to have many genetic variants and environmental factors at the same time.
“This discovery has made it possible to understand more about the mechanisms of developing rheumatoid arthritis, these genetic variants have been used to predict and diagnose the occurrence of rheumatoid arthritis, enabling customized treatment of advanced rheumatoid arthritis in the future.” said Sang-cheol Bae, director of the Rheumatism Research Institute at Hanyang University. “The effect of mucosal immunity on the active lung and small intestine on autoantibody production in early rheumatoid arthritis is significant in that it provided the basis for the genetic characteristics of previous studies.” he added.
This research was conducted with the support of Hanyang University Rheumatology Research Institute, National Research Foundation of Korea, Ministry of Health and Welfare, and Korea National Institute of Health, and Dr. Kwon Young-chang (Hanyang University’s Rheumatism Research Institute), Ji-woo Lim (Kyunghee University Biology Department), and So-young Bang (Hanyang University Guri Hospital’s Rheumatology Department) were co-first authors, and Prof. Sang-cheol Bae and Prof. Kwang-Woo Kim participated as co-corresponding authors.