Scientists Find Genetic Variants That Increase Lupus Risk

Results will help create treatments and diagnostic tests.


Scientists have pinpointed a set of common variations in human DNA that signal a higher risk for lupus in women who carry them. Some of these variations are more common in relatives of lupus patients, which may help future studies examining whether lupus is more prevalent among certain racial and ethnic groups.

In the study – the largest of its kind to date – the International Consortium for Systemic Lupus Erythematosus (SLEGEN) looked at the genomes of 6,728 people. They found several variations, which they believe may be linked to as many as 67 percent of all lupus cases in women, located on various chromosomes in women of European ancestry. The variants helped to identify those who had up to twice the risk of getting lupus compared to those who did not have the variants.

The findings point to various drug targets important to the search for lupus treatments, according to the study’s authors. In addition, the study will help in the understanding of the causes of lupus and in the development of new genetic tests to find those most at risk for the disease,” says Jeffrey Edberg, PhD, an associate professor of medicine in the UAB Division of Clinical Immunology and Rheumatology and co-author on the study.

Using the data from the study, the researchers are developing further studies to determine if the same gene variants signal higher lupus risks in certain ethnic or racial groups. Also, the scientists are examining how these genetic pathways contribute to developing lupus.

This finding, published in an online issue of Nature Genetics, is one of three published by SLEGEN in the current issue of the journal underscoring the importance of genetic variants in diseases that affect immune function. Two other studies of lupus genetics were published in the New England Journal of Medicine and the journal Immunity.  These studies came weeks after the identification of a gene called TNFSF4, one of the first genetic risk factors for lupus.

The Arthritis Foundation is the leading organization 
providing support and funding research to improve the 
lives of individuals with arthritis. You can help!