Genetics of chronic rhinosinusitis: State of the field and directions forward

Joy Hsu; Pedro C. Avila; Robert C. Kern; M. Geoffrey Hayes; Robert P. Schleimer; Jayant M. Pinto

doi:10.1016/j.jaci.2013.01.028

Genetics of chronic rhinosinusitis: State of the field and directions forward

Joy Hsu, Pedro C. Avila, Robert C. Kern, M. Geoffrey Hayes, Robert P. Schleimer, Jayant M. Pinto^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

102 Scopus citations

Abstract

The cause of chronic rhinosinusitis (CRS) remains unclear. Study of the genetic susceptibility to CRS might be a valuable strategy to understand the pathogenesis of this burdensome disorder. The purpose of this review is to critically evaluate the current literature regarding the genetics of CRS in a comprehensive fashion. The most promising findings from candidate gene studies include the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as genes involved in antigen presentation, innate and adaptive immune responses, tissue remodeling, and arachidonic acid metabolism. We also review the few hypothesis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide association studies). Interpretation of the current literature is limited by challenges with study design, sparse replication, few functional correlates of associated polymorphisms, and inadequate examination of linkage disequilibrium or expression quantitative trait loci for reported associations. Given the relationship of CRS to other airway disorders with well-characterized genetic components (eg, asthma), study of the genetics of CRS deserves increased attention and investment, including the organization of large, detailed, and collaborative studies to advance knowledge of the mechanisms that underlie this disorder.

Original language	English (US)
Pages (from-to)	977-993.e5
Journal	Journal of Allergy and Clinical Immunology
Volume	131
Issue number	4
DOIs	https://doi.org/10.1016/j.jaci.2013.01.028
State	Published - Apr 2013

Funding

J.M.P. was supported by K23 AG036762 and T35 AG029795 from the National Institute on Aging ; the Institute for Translational Medicine ( KL2RR025000, UL1RR024999 ) at the University of Chicago; the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) , and the McHugh Otolaryngology Research Fund . J.H. was supported by the Ernest S. Bazley Trust and the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) . P.C.A. was supported by AI082984 from the National Institute of Allergy and Infectious Diseases and the Ernest S. Bazley Trust . R.P.S. was supported by R37 HL068546 and R01 HL078860 from the National Heart, Lung, and Blood Institute, and the Ernest S. Bazley Trust . M.G.H. received institutional support from Northwestern University . Disclosure of potential conflict of interest: J. Hsu has received one or more grants from or has one or more grants pending with ARTrust (2012 Minigrant). R. P. Schleimer has been supported by one or more grants from the National Institutes of Health (NIH) and has consultancy arrangements with Intersect ENT, GlaxoSmithKline, Allakos, and Aurasense. J. M. Pinto has been supported by one or more grants from the NIH/National Institute on Aging (NIA) . The rest of the authors declare that they have no relevant conflicts of interest.

Keywords

Genetics
candidate gene
chronic rhinosinusitis
genome
genome wide association study
linkage
nasal polyposis
polymorphism
single nucleotide polymorphism
sinusitis
susceptibility
variation

ASJC Scopus subject areas

Immunology and Allergy
Immunology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.jaci.2013.01.028

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@article{04066525347a4ec69779fedac7f96b58,

title = "Genetics of chronic rhinosinusitis: State of the field and directions forward",

abstract = "The cause of chronic rhinosinusitis (CRS) remains unclear. Study of the genetic susceptibility to CRS might be a valuable strategy to understand the pathogenesis of this burdensome disorder. The purpose of this review is to critically evaluate the current literature regarding the genetics of CRS in a comprehensive fashion. The most promising findings from candidate gene studies include the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as genes involved in antigen presentation, innate and adaptive immune responses, tissue remodeling, and arachidonic acid metabolism. We also review the few hypothesis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide association studies). Interpretation of the current literature is limited by challenges with study design, sparse replication, few functional correlates of associated polymorphisms, and inadequate examination of linkage disequilibrium or expression quantitative trait loci for reported associations. Given the relationship of CRS to other airway disorders with well-characterized genetic components (eg, asthma), study of the genetics of CRS deserves increased attention and investment, including the organization of large, detailed, and collaborative studies to advance knowledge of the mechanisms that underlie this disorder.",

keywords = "Genetics, candidate gene, chronic rhinosinusitis, genome, genome wide association study, linkage, nasal polyposis, polymorphism, single nucleotide polymorphism, sinusitis, susceptibility, variation",

author = "Joy Hsu and Avila, {Pedro C.} and Kern, {Robert C.} and Hayes, {M. Geoffrey} and Schleimer, {Robert P.} and Pinto, {Jayant M.}",

note = "Funding Information: J.M.P. was supported by K23 AG036762 and T35 AG029795 from the National Institute on Aging ; the Institute for Translational Medicine ( KL2RR025000, UL1RR024999 ) at the University of Chicago; the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) , and the McHugh Otolaryngology Research Fund . J.H. was supported by the Ernest S. Bazley Trust and the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) . P.C.A. was supported by AI082984 from the National Institute of Allergy and Infectious Diseases and the Ernest S. Bazley Trust . R.P.S. was supported by R37 HL068546 and R01 HL078860 from the National Heart, Lung, and Blood Institute, and the Ernest S. Bazley Trust . M.G.H. received institutional support from Northwestern University . Funding Information: Disclosure of potential conflict of interest: J. Hsu has received one or more grants from or has one or more grants pending with ARTrust (2012 Minigrant). R. P. Schleimer has been supported by one or more grants from the National Institutes of Health (NIH) and has consultancy arrangements with Intersect ENT, GlaxoSmithKline, Allakos, and Aurasense. J. M. Pinto has been supported by one or more grants from the NIH/National Institute on Aging (NIA) . The rest of the authors declare that they have no relevant conflicts of interest. ",

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doi = "10.1016/j.jaci.2013.01.028",

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AU - Avila, Pedro C.

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AU - Hayes, M. Geoffrey

AU - Schleimer, Robert P.

AU - Pinto, Jayant M.

N1 - Funding Information: J.M.P. was supported by K23 AG036762 and T35 AG029795 from the National Institute on Aging ; the Institute for Translational Medicine ( KL2RR025000, UL1RR024999 ) at the University of Chicago; the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) , and the McHugh Otolaryngology Research Fund . J.H. was supported by the Ernest S. Bazley Trust and the Allergy, Asthma and Immunology Education and Research Trust (ARTrust) . P.C.A. was supported by AI082984 from the National Institute of Allergy and Infectious Diseases and the Ernest S. Bazley Trust . R.P.S. was supported by R37 HL068546 and R01 HL078860 from the National Heart, Lung, and Blood Institute, and the Ernest S. Bazley Trust . M.G.H. received institutional support from Northwestern University . Funding Information: Disclosure of potential conflict of interest: J. Hsu has received one or more grants from or has one or more grants pending with ARTrust (2012 Minigrant). R. P. Schleimer has been supported by one or more grants from the National Institutes of Health (NIH) and has consultancy arrangements with Intersect ENT, GlaxoSmithKline, Allakos, and Aurasense. J. M. Pinto has been supported by one or more grants from the NIH/National Institute on Aging (NIA) . The rest of the authors declare that they have no relevant conflicts of interest.

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N2 - The cause of chronic rhinosinusitis (CRS) remains unclear. Study of the genetic susceptibility to CRS might be a valuable strategy to understand the pathogenesis of this burdensome disorder. The purpose of this review is to critically evaluate the current literature regarding the genetics of CRS in a comprehensive fashion. The most promising findings from candidate gene studies include the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as genes involved in antigen presentation, innate and adaptive immune responses, tissue remodeling, and arachidonic acid metabolism. We also review the few hypothesis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide association studies). Interpretation of the current literature is limited by challenges with study design, sparse replication, few functional correlates of associated polymorphisms, and inadequate examination of linkage disequilibrium or expression quantitative trait loci for reported associations. Given the relationship of CRS to other airway disorders with well-characterized genetic components (eg, asthma), study of the genetics of CRS deserves increased attention and investment, including the organization of large, detailed, and collaborative studies to advance knowledge of the mechanisms that underlie this disorder.

AB - The cause of chronic rhinosinusitis (CRS) remains unclear. Study of the genetic susceptibility to CRS might be a valuable strategy to understand the pathogenesis of this burdensome disorder. The purpose of this review is to critically evaluate the current literature regarding the genetics of CRS in a comprehensive fashion. The most promising findings from candidate gene studies include the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as genes involved in antigen presentation, innate and adaptive immune responses, tissue remodeling, and arachidonic acid metabolism. We also review the few hypothesis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide association studies). Interpretation of the current literature is limited by challenges with study design, sparse replication, few functional correlates of associated polymorphisms, and inadequate examination of linkage disequilibrium or expression quantitative trait loci for reported associations. Given the relationship of CRS to other airway disorders with well-characterized genetic components (eg, asthma), study of the genetics of CRS deserves increased attention and investment, including the organization of large, detailed, and collaborative studies to advance knowledge of the mechanisms that underlie this disorder.

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KW - genome wide association study

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KW - polymorphism

KW - single nucleotide polymorphism

KW - sinusitis

KW - susceptibility

KW - variation

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Genetics of chronic rhinosinusitis: State of the field and directions forward

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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