Immune Disorders Genetic Missing Link Found
- By BSTQ Staff
An international team of researchers has identified a gene that may be a missing link between overactive and underactive immune activity, and that may also play a key role in autoimmune diseases. In the study, scientists searched for genetic differences between 778 patients with common variable immunodeficiency (CVID) and 11,000 control patients, all from the U.S., U.K., Germany, Sweden and Norway. In 2011, Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia, and colleagues had discovered that CVID was linked to the HLA-related gene region on chromosome 6p21, which the current study confirmed. That gene region codes for the HLA (human leukocyte antigen) complex, a well-known group of proteins that helps recognize invading microorganisms. However, in this study, the investigators additionally found a robust, novel candidate for a risk gene in CVID: the CLEC16A gene region on chromosome 16p13.13. “This is the first risk susceptibility gene for CVID identified by a genome-wide association study that does not code for the HLA complex,” said Dr. Hakonarson, adding that the CLEC16A gene region offers a very compelling target for understanding CVID.
In the current study, the international research team showed that mice with reduced activity in the corresponding animal gene had lower levels of B cells, the immune cells that are depleted in the human disease. In addition, previous genetic studies by Dr. Hakonarson and other researchers found that changes in CLEC16A raised the risk of type 1 diabetes, inflammatory bowel disease and other autoimmune disorders. “The biological mechanisms that cause disease symptoms in CVID are still unclear,” said Dr. Hakonarson, “but this study may suggest that altered function in CLEC16A and its associated proteins may represent a ‘missing link’ between immunodeficiency and autoimmunity in CVID. This may offer new opportunities for eventually designing more effective treatments.”
The study was published in the April 20 online edition of Nature Communications.
References
- Gene Therapy Shows Promise for Rare Immune Disorder. HealthDay, April 22, 2015. Accessed at consumer.healthday.com/diseases-and-conditions-information-37/miscdiseases-and-conditions-news-203/gene-therapyimmune-disorder-jama-release-batch-1707-698535.html.
