DALLAS March 30, 2009 In an international human genetic study, researchers at UT Southwestern Medical Center have identified a gene linked to the autoimmune disease lupus, and its location on the X chromosome might help explain why females are 10 times more susceptible to the disease than males.
Identifying this gene, IRAK1, as a disease gene may also have therapeutic implications, said Dr. Chandra Mohan, professor of internal medicine and senior author of the study. "Our work also shows that blocking IRAK1 action shuts down lupus in an animal model. Though many genes may be involved in lupus, we only have very limited information on them," he said.
The study appears online this week in the Proceedings of the National Academy of Sciences.
Locating IRAK1 on the X chromosome also represents a breakthrough in explaining why lupus seems to be sex-linked, Dr. Mohan said. For decades, researchers have focused on hormonal differences between males and females as a cause of the gender difference, he pointed out.
"This first demonstration of an X chromosome gene as a disease susceptibility factor in human lupus raises the possibility that the gender difference in rates may in part be attributed to sex chromosome genes," Dr. Mohan said.
Systemic lupus erythematosus, or lupus for short, causes a wide range of symptoms such as rashes, fever or fatigue that make it difficult to diagnose.
The multicenter study involved 759 people who developed lupus as children, 5,337 patients who developed it as adults, and 5,317 healthy controls. Each group comprised four ethnicities: European-Americans, African-Americans, Asian-Americans and Hispanic-Americans.
In previous genetic studies, the researchers had found an association but not a definite link between lupus and IRAK1.
For the current study, the researchers studied five variations of the IRAK1 gene in the subjects, and found that three of the
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UT Southwestern Medical Center