Eosinophilic granulomatosis with polyangiitis (Lyons, 2019)

STUDY TITLE: Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

SUMMARY: Discovery of four genetic variants associated with eosinophilic granulomatosis, a rare autoimmune disease that affects the blood vessels.

OVERVIEW:  Eosinophilic granulomatosis with polyangiitis (EGPA; also known as Churg-Strauss syndrome) is a rare autoimmune disease. It’s characterized by abnormally high levels of eosinophil white blood cells and inflammation of small- and medium-sized blood vessels. The early stage of the disease is marked by an inflammation of the airways that causes asthma. Later stages also affect other organs, in particular the digestive tract and the heart. To understand the genetic factors contributing to the risk of EGPA, this genome-wide association study analyzed the genomes of over 7,000 individuals of European ancestry. The study discovered four genetic variants that have been previously associated with asthma and counts of eosinophil white blood cells.

DID YOU KNOW? The cause of EGPA is not fully understood. It is believed that an infection may initiate the inflammatory process. Inhaled allergens and certain medications may also play a role in triggering an onset of EGPA. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

EGPA-ASSOCIATED VARIANTS: rs72946301, rs1837253, rs9274704, rs34574566

Eosinophil count

WEEKLY UPDATE: November 23, 2019

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