A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Nat Genet. 2019 Feb;51(2):267-276. doi: 10.1038/s41588-018-0314-6. Epub 2019 Jan 14.

Abstract

Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15 that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P = 8.0 × 10-27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P = 1.1 × 10-8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arachidonate 15-Lipoxygenase / genetics*
  • Asthma / genetics
  • Chronic Disease
  • Eosinophils / pathology
  • Female
  • Genetic Variation / genetics*
  • Genome-Wide Association Study / methods
  • Humans
  • Iceland
  • Leukocyte Count / methods
  • Male
  • Nasal Polyps / genetics*
  • Nasal Polyps / pathology
  • Sinusitis / genetics*
  • Sinusitis / pathology

Substances

  • ALOX15 protein, human
  • Arachidonate 15-Lipoxygenase