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Genes Associated with Bleeding Caused by Thrombocytopenia

Set in by Prof. Dan Southern

Researchers at Baylor College of Medicine have found genes associated with an autoimmune bleeding disorder called chronic immune thrombocytopenia, or ITP.

Dr. Jenny Despotovic, assistant professor of pediatrics at Baylor and Texas Children’s Cancer and Hematology Centers, presented the research Dec. 5 at the American Society of Hematology 57th Annual Meeting.

ITP is an autoimmune disorder in which antibodies are formed against platelets, resulting in a low platelet count and blood that does not properly clot, increasing the risk of bleeding, which can be severe and even life threatening. The study sought to identify genetic variants associated with susceptibility to and severity of the disease.

Researchers obtained DNA samples from the North American Chronic ITP Registry and the Platelet Disorders Center at the Weill-Cornell Medical Center, and whole exome sequencing was performed at Baylor College of Medicine’s Human Genome Sequencing Center. This work was done as a collaboration with the ITP Consortium of North America, of which Baylor and Texas Children’s Hospital have been key participants since its inception.

“Results of the study showed that variants in genes associated with immune cell signaling, including IFNA17, are significantly more common in children with chronic ITP than in the healthy population,” Despotovic said.

Of the 172 ITP patients in the study, more than 40 percent had a variant in IFNA17, including one variant present in 26 percent of the ITP patients compared to about 5 percent of controls. This gene is associated with immune cell activity, and could have an important role in predisposition to ITP or disease severity.

“We also identified genes, including DOK3, that are far more common in children with ITP who required more aggressive treatment than those who did not,” Despotovic said.

“This study is the first of its kind in chronic ITP, and these findings may facilitate improved understanding of the development of this disease and why it becomes a chronic disease in some children,” she said. “In addition, understanding patients’ genetic changes could lead to more personalized approaches to treatment of this disorder.”

Others who contributed to this research included Eric Boerwinkle and Linda Polfus, both of the University of Texas Health Science Center at Houston, Jonathan Flanagan of Baylor and Texas Children’s Hospital, as well as numerous collaborators in ICON.

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