Autoimmune Disease: Researchers Calculate Heritability Risk Factors In Pediatric Patients

First Posted: Oct 09, 2015 11:56 AM EDT

Statistics show that autoimmune diseases affect roughly one in 12 persons in the Western Hemisphere. For some, this may signal chronic disability, ranging from illnesses such as Crohn's disease to juvenile idiopathic arthritis.

Yet researchers have now calculated risk factors that determine heritability in nine autoimmune diseases beginning in childhood. With future research, they're hopeful that it may strengthen the ability to predict the risk of illness and provide treatment for patients in need sooner.

"The results from this study enable us to better understand the genetic component of these diseases and how they are genetically related to each other, thereby explaining why different autoimmune disorders often run in the same family," said study leader, Hakon Hakonarson, M.D., Ph.D., professor of Pediatrics and director of the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP), in a news release.

Oftentimes, autoimmune diseases are genetic and risk can increase the odds of having more than one autoimmune disease. Therefore, researchers developed tools for a quantitative analysis that calculated the percentages for specific gene variants that might contribute to each disease. They also calculated joint heritability, which is attributable to certain gene variants shared by pairs of disease.

In this recent study, the researchers focused on nine pediatric-onset autoimmune diseases (pAIDS), including the following, courtesy of the release: type 1 diabetes, celiac disease, juvenile idiopathic arthritis, common variable immunodeficiency, systemic lupus erythematosus, Crohn's disease, ulcerative colitis, psoriasis, and ankylosing spondylitis. Researchers examined a sample of 5,000 unrelated pAID patients, drawn from the Children's Hosptial of Philadelphia pediatric network, as well as 36,000 healthy controls. They also compared genome-wide association data on the non-autoimmune disease, pediatric-onset epilepsy.

Findings showed that unlike adult-onset autoimmune disease, pAIDs carried much stronger heritability. Furthermore, study results revealed that the highest heritability was with type 2 diabetes (T1D) and juvenile idiopathic arthritis (JIA). Ulcerative colitis and Crohn's disease, on the other hand, carried much lower rates of heritability, as certain environmental factors can influence gastrointestinal organisms related to these diseases.

The study was published in the journal Nature Communications.

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