The diagnosis of systemic lupus erythematosus is raised to the genetic level

  Accurate diagnosis of systemic lupus erythematosus is a major problem in the global medical community. Recently, Professor Lu Qianjin from the Hunan Provincial Key Laboratory of Medical Epigenomics of the Second Xiangya Hospital of Central South University led the research and development team to develop a new diagnostic marker for systemic lupus erythematosus with high specificity and sensitivity after three years of hard work. For the first time in the world, the diagnosis of the disease has been raised to the genetic level. The results have been applied for Chinese and international invention patents, and are expected to be subsequently used in clinical diagnosis.

  Systemic lupus erythematosus is an autoimmune disease that occurs in reproductive women. It often affects important organs such as skin, blood, kidneys, joints, and brain. There are more than one million patients suffering from systemic lupus erythematosus in my country, and their condition is complex, clinically heterogeneous, and even life-threatening. For more than a century, although scientists from various countries have conducted a lot of research, there is still a lack of specific and highly sensitive diagnostic markers in clinical practice, resulting in some patients with systemic lupus erythematosus unable to obtain accurate diagnosis. In the past three years, with the support of key projects of the National Natural Science Foundation of China and major international cooperative research projects, the Lu Qianjin team used DNA methylation chips for the first time to screen for differentially methylated sites in the peripheral blood DNA of patients with systemic lupus erythematosus. Screening identified the IFI44L gene methylation level as a marker for the diagnosis of systemic lupus erythematosus. This result has been verified in the population of systemic lupus erythematosus in my country and Europe. According to Lu Qianjin, the study also found that the methylation level of IFI44L gene can distinguish patients with systemic lupus erythematosus from normal people and other autoimmune diseases, significantly improving the diagnostic reliability and accuracy of systemic lupus erythematosus. Among them, specific Sex is over 95%, sensitivity is over 90%. Moreover, it can also be applied to the judgment of the curative effect of systemic lupus erythematosus.