Forty-six 46 new genes causing systemic lupus erythematosus (SLE), a typical autoimmune disease, have been discovered for the first time in the world by a large-scale genetic study of East Asians, including Koreans, researchers said.
Lupus occurs more frequently in East Asians than Europeans and with more severe symptoms. However, there have been limitations to understanding the peculiar genetic heterogeneity of East Asians, as previous research was mainly conducted on Caucasians, according to Hanyang University Medical Center on Monday.
As the study identified the genetic variation caused by lupus in East Asians, with high genetic homogeneity with Koreans, it is expected to contribute to precision medicine for lupus patients in Korea greatly.
The joint research team was led by Professor Bae Sang-cheol of the Department of Rheumatology at the hospital and Professor Kim Kwang-woo of the Department of Biology at Kyung Hee University as the first author. A global cooperation project preceded it with 102 joint researchers from 65 organizations worldwide, including Korea, China and Japan.
The recent research analyzed the gene mutations of 13,377 lupus patients in Korea, China, Japan, and 194,993 healthy participants.
The team found 113 genes, including 46 new gene mutations that cause lupus. Considering there are less than 100 causative genes for lupus, which have been known for long, the discovery of 46 genes is highly significant, according to the research team.
Among the identified genes, the team found most functional gene mutations that caused changes in the amino acid, which make up protein. Statistical analysis in the nine new genes showed for the first time that multiple genetic mutations work simultaneously in diseases.
The team condensed and announced the candidates of genetic mutations that directly cause lupus to 110 using the Bayesian inference method. It is expected to contribute greatly to further research of gene mutations and lupus-causative molecular biologic studies.
“We now have a better understanding of the mechanism of lupus occurrence by discovering 46 new lupus causative genes,” Professor Bae said. “We can contribute to developing precision medicine of lupus by applying it to predicting and preventing lupus occurrence in East Asians.”
The team plans to conduct follow-up research on the lupus outbreak mechanism by integrating the lupus gene and immune cell-based big data found in the study and a large-scale study with medical biologists worldwide for studying multiracial lupus genes.
The study was published in the latest issue of Annals of the Rheumatic Diseases.