China News Online, January 9th (Reporter Chen Jing) Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that occurs frequently in women and can cause damage to multiple organs. In severe cases, it is life-threatening.
However, the cause of the disease is unknown, and there is currently no effective cure.
The reporter learned on the 9th that the team of Professor Nan Shen from the Institute of Rheumatology, Renji Hospital, Shanghai Jiaotong University School of Medicine, took the lead in linking SLE autoimmune disease risk genetic variants with the etiology, and clarified the important regulatory role in the pathogenesis of lupus Non-coding RNA-related molecular genetics provides new directions and targets for treatment.
Their research demonstrated a strategy for screening functional disease susceptibility sites and functional regulatory elements.
A large number of studies have shown that genetic and environmental factors are closely related to the onset of SLE. For example, in SLE patients, the incidence of identical twins is much greater than that of fraternal twins.
Professor Nan Shen said that studying the functions of the genome that determine inheritance will help reveal the pathogenesis of SLE and develop new prevention and treatment methods.
It is understood that the Shen Nan research team has been focusing on related research on genetics and SLE.
In recent years, using traditional first-generation sequencing, advanced second-generation sequencing, and exome sequencing, researchers have discovered a number of SLE-related disease susceptibility genes and loci, and related studies have confirmed the genetic susceptibility of SLE. And it has been confirmed and widely concerned by international counterparts.
In an interview, Shen Nan bluntly stated that only by identifying the functional genetic susceptibility sites and analyzing the molecular mechanisms can they provide new ideas for the early detection, diagnosis and treatment of diseases.
Related research has always been a hot and difficult point in the field of genetics.
It is reported that in the human genome, non-coding sequences account for 99%.
As part of the non-coding sequence, the enhancer determines in which cell the gene can be expressed and the fate of cell differentiation.
Most of the genetically found lupus genetic susceptibility sites are located in the non-coding region and in the enhancer region.
Researchers comprehensively used genetics and other multi-omics techniques to identify disease susceptibility sites with potential regulatory functions, and discovered related enhancers that finely regulate the expression of lupus pathogenic genes.
Their research results were published online in the international authoritative journal "Nature Communications".
According to reports, this research is supported by the National Natural Science Foundation of China, the National Human Genetic Resources Sharing Service Platform, and the Shanghai Key Medical Center Construction Project.
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