Korean researchers unlock genetic clues to lupus
In a major leap forward for autoimmune disease research, South Korean researchers have developed a high-resolution genetic analysis tool that can precisely decode the complex immune-related gene cluster linked to lupus. This discovery not only deepens understanding of how lupus begins but also could lead to customized treatments tailored to individual genetic profiles, they say.
'There are two major breakthroughs here,' said Professor Bae Sang-cheol of Hanyang University Hospital for Rheumatic Diseases, who led the study, in a phone interview with The Korea Herald.
'First, the immune-related genes located in the MHC region on chromosome 6 are extremely complex, making them difficult to analyze. With this new tool, we can now accurately and easily analyze this region. This creates a foundational infrastructure that could be used to uncover genetic causes of not only lupus, but also other autoimmune diseases like rheumatoid arthritis and inflammatory bowel disease.'
The study, conducted in collaboration with Professor Kim Kwangwoo at Kyung Hee University and the National Institute of Health's genome research department, focused on a section of our DNA called the MHC region, short for Major Histocompatibility Complex.
This part of our genetic code plays a key role in controlling the immune system. It includes important genes like HLA and C4, both of which have been suspected of having links to autoimmune diseases, Bae explained.
Lupus, also known as systemic lupus erythematosus, is a disease where the body's immune system starts attacking healthy cells and organs.
It can affect the skin, joints, kidneys, brain and more. Scientists have long believed that certain genes may increase the likelihood of developing lupus in some individuals, but determining which genes are involved has been a major challenge, as there are as many as 200 genes discovered to have an impact — until now.
The MHC imputation reference panel developed by the research will enable the analysis of a tricky part of the genome in more detail, which is an important step toward understanding lupus on a genetic level. This will give a clearer picture of why some people develop lupus and how their immune system breaks down.
The second major advancement, Bae explained, is in precision medicine.
"Unlike other genetic disorders caused by one or two mutations, lupus is driven by a combination of many genetic factors and influenced by environmental triggers, which makes identifying the cause extremely difficult,' he said.
'But now, by understanding these complex combinations, we can move toward personalized treatment. For example, if we identify that a patient's disease is linked to the C4 gene — one of the strongest known genetic risk factors — we can choose a drug that specifically targets that mechanism. This opens the door not just to more effective therapies but also to developing new drugs.'
What sets this tool apart is not only its precision but also its cultural relevance.
'Until now, most panels like this were built using data from people in the US,' Bae said. 'That meant they didn't include East Asian-specific genetic variations, which reduced accuracy for Koreans and other Asians. Now, this tool dramatically improves precision for our population. It's meaningful that Korea and other East Asian countries are now leading this field.'
The new panel will be made publicly available through Korea's national CODA system, allowing researchers worldwide to access it for studies on lupus, other autoimmune disorders, infectious diseases and chronic inflammatory illnesses.
'This is just the beginning,' Bae said. 'Autoimmune diseases are even more complex than cancer because the genetic combinations vary so much from person to person. But if we can sort people by their genetic profile and match them with the right drugs, it could open doors to more precise treatments for everyone."
The study was published in Annals of the Rheumatic Diseases, one of the most prestigious international journals in the field.
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