Lupus-associated DNA Variants Discovered in Large-Scale Asian Population Study

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by Margarida Azevedo |

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lupus and genetics

An international team of researchers has identified 10 new genes associated with the development of systemic lupus erythematosus (SLE) that might constitute potential therapeutic targets for the disease. The research paper, “High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry,” was published in Nature Genetics.

Researchers led by Dr. Swapan Nath from the Oklahoma Medical Research Foundation (OMRF) analyzed DNA samples collected from SLE patients and healthy controls in South Korea, China, Malaysia and Japan. To identify new susceptibility variants and improve the mapping of known ones, the study included 4,478 SLE cases and 12,656 controls. The team identified 10 new DNA variants and confirmed 20 known variants that are linked to a higher susceptibility for lupus development.

One gene in particular, GTF2I, showed the strongest likelihood of being associated with lupus onset. Researchers believe this gene might be a key component of lupus susceptibility, and its genetic effect appears to be higher than other previously known genes in Asians, possibly accounting for the predominant gene involved in lupus in this Asian-specific population.

Future research includes pinpointing the exact location of gene defects and the scope of their influence in lupus development. A deeper understanding of genetic and molecular mechanisms may allow researchers to develop therapies that target specific genes. Such an approach is exciting because it opens the door for personalized medicine, where the treatment is designed according to the patient’s genetic profile.

“We know lupus has a strong genetic basis, but in order to better treat the disease we have to identify those genes. Large-scale studies of this magnitude are becoming the gold standard for locating genes associated with autoimmune diseases like lupus,” lead researcher Nath said in a press release.

“These findings mark a significant advance in our knowledge base for lupus genes. For every gene we identify, it brings us closer to uncovering the trigger for this puzzling disease. It’s good news for researchers and patients alike,” said Judith James, M.D., director of OMRF’s Autoimmune Disease Institute and Arthritis and chair of the Clinical Immunology Research Program.