A genetic variant that increases risk of the chronic inflammatory disorder sarcoidosis has been identified, according to a study published online in Nature Genetics.
Sarcoidosis can affect almost any organ, although the small inflammatory nodules that accompany the disease are most often found in the lungs or lymph nodes, leading to shortness of breath, fatigue, and weight loss, among other symptoms. Stefan Schreiber and colleagues carried out the first genome-wide scan for variants that predispose to sarcoidosis.
They report that a variant adjacent to the gene ANXA11 is overrepresented in individuals with the disease. ANXA11 encodes the protein annexin 11, which is a member of a gene family that has been implicated in other inflammatory disorders, including rheumatoid arthritis and lupus. The authors speculate that depletion of annexin 11, a protein that ordinarily promotes cell death, might allow for the unwanted persistence of activated inflammatory cells in the body.
Stefan Schreiber (Christian Albrechts University, Kiel, Germany)
Abstract available online.
(C) Nature Genetics press release.
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