Researchers Discover 10 New Lupus Genes


23 febbraio 2016 - 09:00Rassegna stampa


Researchers have identified 10 new genes associated with lupus. The findings were published in the January 25 issue of Nature Genetics.

Swapan Nath, PhD, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, and colleagues analysed more than 17,000 human DNA samples collected from blood gathered from volunteers in South Korea, China, Malaysia, and Japan.

Of those samples, nearly 4,500 had confirmed cases of lupus, while the rest served as healthy controls for the research. From that analysis, the researchers identified 10 distinct DNA sequence variants linked to lupus.

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

"These findings mark a significant advance in our knowledge base for lupus genes," said Judith James, MD, Autoimmune Disease Institute at the Oklahoma Medical Research Foundation. "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."

In the study, 1 gene in particular, known as GTF2I, showed a high likelihood of being involved in the development of lupus.

"GTF2I seems to be one of the key players in lupus susceptibility," said Dr. Nath. "Its genetic effect appears to be higher than previously known lupus genes discovered from Asians, and we surmise that it now may be the predominant gene involved in lupus."

With these new genes identified, the researchers can try to pinpoint where defects occur and whether those mutations contribute to the onset of lupus pathogenesis.

Dr. Nath said that understanding where and how the defects arise will allow scientists to develop more effective therapies specifically targeting those genes. The ultimate goal is to understand the disease better and develop personalised intervention therapies for patients based on their genetic makeup.

"We are a long way from that point, but huge collaborative efforts like this help to get things going," said Dr. Nath.

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