Current Allergy and Asthma Reports

, Volume 11, Issue 3, pp 236–246 | Cite as

Genetics of Rhinosinusitis

  • Leandra Mfuna-Endam
  • Yuan Zhang
  • Martin Y. Desrosiers


Suggestion for a potential genetic basis to chronic rhinosinusitis (CRS) is afforded by degree of inheritability suggested from family and twin studies, existence of CRS in simple mendelian diseases, and development of sinusitis as part of the phenotype of certain gene “knockout” murine models. Genetic association studies are expected to identify novel genes associated with CRS and suggest novel mechanisms implicated in disease development. Although these studies are subject to methodologic difficulties, associations of CRS and polymorphisms in more than 30 genes have been published, with single nucleotide polymorphisms in 3 (IL1A, TNFA, AOAH) replicated. While the individual risk conferred by these single nucleotide polymorphisms remains modest, taken as a group, they suggest an important implication of pathways of innate immune recognition and in regulation of downstream signaling in the development of CRS. In a demonstration of these techniques’ potential to identify new targets for research, the authors present a functional investigation of LAMB1, the top-rated gene from a pooling-based genome-wide association study of CRS. Upregulation of gene expression in LAMB1 and associated laminin genes in primary epithelial cells from CRS patients implicates the extracellular matrix in development of CRS and offers a new avenue for further study.


Chronic rhinosinusitis Endoscopic sinus surgery Genetics Nasal polyposis Staphylococcus aureus Staphylococcal superantigens Gene association study Pooling-based genome-wide association study Asthma Aspirin-intolerant asthma Innate immunity Toll-like receptor signaling IL1A IL33 IL1RN CACNG6 MMP9 IL10 TGFB1 IL22RA1 TNFAIP3 TNFA NOS1 NOS1AP TP73 CYSLTR1 ALOX5 ALOX5AP LAMA2 PARS2 NAV3 LAMB1 CACNA1I KIAA1456 MUSK TRIP12 AOAH MSRA 



This work was funded in part by Fondation Antoine Turmel.


No potential conflicts of interest relevant to this article were reported.


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Leandra Mfuna-Endam
    • 1
  • Yuan Zhang
    • 2
  • Martin Y. Desrosiers
    • 3
  1. 1.Department of Otolaryngology—Head and Neck Surgery, Centre de Recherche du CHUM (CRCHUM), Hôpital Hôtel-DieuUniversité de MontréalMontrealCanada
  2. 2.Key Laboratory Otolaryngology Head and Neck Surgery, Ministry of Education of China, Beijing Institute of Otorhinolaryngology; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren HospitalCapital Medical UniversityBeijingPeople’s Republic of China
  3. 3.Division of Otolaryngology-Head and Neck SurgeryUniversité de Montréal Centre de recherche du CHUM (CRCHUM), Pavillon Hôtel-Dieu, Centre Hospitalier de l’université de MontréalMontréalCanada

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