Alleles of lupus

Lupus has been linked to genetic mutations

Alexey Yevglevsky, Naked Science

Biologists from the John Curtin School of Medical Research (Australia) conducted a genetic analysis of two cohorts of lupus patients and one group of healthy people. They identified gene variants that are more common among carriers of the disease. The results are published in the journal Nature Communications (Jiang et al., Functional rare and low frequency variations in BLK and BANK1 contribute to human lupus).

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. During the development of the disease, antibodies of the human immune system damage healthy cells, mainly connective tissue. About half of the patients develop a rash on the skin, mainly on the cheeks and hands. There are also other symptoms: fever, headaches, weakness, joint damage, heart tissue damage, the appearance of blood in the urine, and others. At the same time, women face the disease more often than men. There are no effective drugs that counteract it today.

Australian scientists have been conducting research for six years and have now shared the results. They identified gene variants that are more common in lupus patients and provoke an autoimmune reaction. 

The authors selected 69 people who were diagnosed with SLE and 97 healthy elderly people. They conducted a genetic analysis and identified rare gene variants. Two variants of the BLK and BANK1 genes were more common among the former. To check the results, biologists gathered a second group of lupus patients, which included 64 people, the result was the same. These gene variants contribute to the uncontrolled proliferation of type 1 interferons (type I interferons), which affect the work of leukocytes – protective cells of the immune system. In mice, these genetic variants also increased the number of faulty white blood cells.

The number of rare gene variants found in healthy and lupus-affected people (a), and the most frequently mutated genes among SLE patients (from an article in Nature Communications).

According to the authors, it cannot be said that lupus occurs only through the fault of genes, but the study has opened up the possibility of easy diagnosis. It takes about two weeks to obtain a genome sequence, so doctors will be able to diagnose lupus with greater accuracy and speed.

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