RScientists at deCODE genetics have found a variant that protects against nasal polyps and chronic rhinosinusitis.
The study was published on the 14th of January in the online edition of Nature genetics.
Nasal polyps are non-malignant, typically bilateral growths on the mucosa of the nasal passages and paranasal sinuses and affect up to 4% of the population. They are often symptomless, but can cause nasal obstruction, rhinorrhea and postnasal drip, and are a significant risk factor for recurrent sinus infections (chronic rhinosinusitis). Such infections can greatly affect quality of life by causing facial pain, headaches, postnasal drainage, and anosmia.
The scientists found ten variants associated with nasal polyps and two with chronic rhinosinusitis.
Most notable is the low frequency missense variant Thr560Met in ALOX15 that confers a 68% reduction in risk of nasal polyps, and a 36% reduction in risk of chronic rhinosinusitis. ALOX15 encodes the enzyme 15-LO, which plays a role in inflammatory processes and is unpregulated in nasal polyp tissue. Thr560Met greatly reduces catalytic activity of 15-LO resulting in a near-null variant of the enzyme, and is therefore a loss-of-function mutation.
Kári Stefánsson, CEO of deCODE genetics, says that this variant may point to ALOX15 as a drug target, as previously discovered loss-of-function variants have successfully guided drug development.
Thora Kristin Asgeirsdottir
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