An international study of human genetics conducted by researchers at the UT Southwestern Medical Center recently discovered a gene linked to luput autoimmune disease. The location of this gene on the X chromosome may help explain why women are 10 times more likely to get lupus than men.
The gene IRAK1 is a disease gene, according to Dr. Chandra Mohan, professor of internal medicine and lead author of the study, the discovery of the gene that causes the disease has many therapeutic meanings. He said: 'Our research shows that suppression of IRAK1 gene also prevents lupus in animals. Although there may be many genes involved in causing luput, we have only very limited information about them. '
This research is published in the journal Proceedings of the National Academy of Sciences.
Locating IRAK1 on the X chromosome is also a breakthrough in explaining why lupus is related to sex. For decades, researchers have focused and differentiated hormones between men and women and considered it a cause of gender differences.
Dr. Mohan said: 'The first evidence of genes on the X chromosome acts as a factor that makes people more susceptible to disease as in the case of luput, which poses the possibility that sex differences in proportions The disease may be somewhat related to genes on sex chromosomes'.
Systemic lupus erythematosus, in short, lupus, has a range of symptoms such as rash, fever or fatigue that makes it difficult to diagnose.
The study involved 759 people with lupus from an early age, 5,337 patients became infected as adults, and 5,317 healthy people . Each group consists of four ethnic groups: European Americans, African Americans, Asian Americans, and Hispanic and Portuguese.
In previous genetic studies, scientists have discovered an association but not sure between lupus and IRAK1.
For this study, the scientists studied five different variants of the IRAK1 gene in the subjects. They found that 3 out of these 5 variants are very common in people with lupus as a child and when they are adults.
To better identify the link, scientists tested a mouse that often lupus and removed the IRAK1 gene from them. Without the IRAK1 gene, they had no symptoms associated with lupus, including symptoms of kidney dysfunction, autoimmune antibody production and activation of white blood cells.
Dr Mohan said: 'The strong involvement of IRAK1 in regulating the immune response has shown its link to luput as a basic candidate for genetic function analysis.' .
Future additional studies will explore the role that chromosome X-related genes have with respect to the likelihood of being susceptible to lupus in both sexes.