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Asthma-related traits, susceptibility to, 2(ASRT2)

MedGen UID:
324885
•Concept ID:
C1837811
•
Finding
Synonyms: ASRT2; ASTHMA SUSCEPTIBILITY 2
 
Gene (location): NPSR1 (7p14.3)
 
Monarch Initiative: MONDO:0012067
OMIM®: 608584

Definition

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002). For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807. [from OMIM]

Recent clinical studies

Etiology

Epigenomic partitioning of a polygenic risk score for asthma reveals distinct genetically driven disease pathways.
Stikker B, Trap L, Sedaghati-Khayat B, de Bruijn MJW, van Ijcken WFJ, de Roos E, Ikram A, Hendriks RW, Brusselle G, van Rooij J, Stadhouders R
Eur Respir J 2024 Aug;64(2) Epub 2024 Aug 29 doi: 10.1183/13993003.02059-2023. PMID: 38901884Free PMC Article
Integrative genetics-metabolomics analysis of infant bronchiolitis-childhood asthma link: A multicenter prospective study.
Ooka T, Zhu Z, Liang L, Celedon JC, Harmon B, Hahn A, Rhee EP, Freishtat RJ, Camargo CA Jr, Hasegawa K
Front Immunol 2022;13:1111723. Epub 2023 Feb 2 doi: 10.3389/fimmu.2022.1111723. PMID: 36818476Free PMC Article
Genome-wide association study identifies BTNL2 associated with atopic asthma in children.
Kim SY, Kim EG, Kim M, Hong JY, Kim GE, Jung JH, Park M, Kim MJ, Kim YH, Sohn MH, Kim KW
Medicine (Baltimore) 2021 Nov 5;100(44):e27626. doi: 10.1097/MD.0000000000027626. PMID: 34871226Free PMC Article
A genome-wide association study of asthma hospitalizations in adults.
Yan Q, Forno E, Herrera-Luis E, Pino-Yanes M, Yang G, Oh S, Acosta-Pérez E, Hu D, Eng C, Huntsman S, Rodriguez-Santana JR, Cloutier MM, Canino G, Burchard EG, Chen W, Celedón JC
J Allergy Clin Immunol 2021 Mar;147(3):933-940. Epub 2020 Sep 2 doi: 10.1016/j.jaci.2020.08.020. PMID: 32890573Free PMC Article
Associations and interactions of genetic polymorphisms in innate immunity genes with early viral infections and susceptibility to asthma and asthma-related phenotypes.
Daley D, Park JE, He JQ, Yan J, Akhabir L, Stefanowicz D, Becker AB, Chan-Yeung M, Bossé Y, Kozyrskyj AL, James AL, Musk AW, Laprise C, Hegele RG, Paré PD, Sandford AJ
J Allergy Clin Immunol 2012 Dec;130(6):1284-93. Epub 2012 Oct 9 doi: 10.1016/j.jaci.2012.07.051. PMID: 23063165

Diagnosis

Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma.
Acevedo N, Sääf A, Söderhäll C, Melén E, Mandelin J, Pietras CO, Ezer S, Karisola P, Vendelin J, Gennäs GB, Yli-Kauhaluoma J, Alenius H, von Mutius E, Doekes G, Braun-Fahrländer C, Riedler J, van Hage M, D'Amato M, Scheynius A, Pershagen G, Kere J, Pulkkinen V
PLoS One 2013;8(4):e60111. Epub 2013 Apr 2 doi: 10.1371/journal.pone.0060111. PMID: 23565190Free PMC Article

Therapy

Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients.
Kim DJ, Lim JE, Jung HU, Chung JY, Baek EJ, Jung H, Kwon SY, Kim HK, Kang JO, Park K, Won S, Kim TB, Oh B
BMC Med Genomics 2023 Oct 24;16(1):259. doi: 10.1186/s12920-023-01677-7. PMID: 37875944Free PMC Article
A genome-wide association study of asthma hospitalizations in adults.
Yan Q, Forno E, Herrera-Luis E, Pino-Yanes M, Yang G, Oh S, Acosta-Pérez E, Hu D, Eng C, Huntsman S, Rodriguez-Santana JR, Cloutier MM, Canino G, Burchard EG, Chen W, Celedón JC
J Allergy Clin Immunol 2021 Mar;147(3):933-940. Epub 2020 Sep 2 doi: 10.1016/j.jaci.2020.08.020. PMID: 32890573Free PMC Article
Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa Rica.
Hersh CP, Soto-Quirós ME, Avila L, Lake SL, Liang C, Fournier E, Spesny M, Sylvia JS, Lazarus R, Hudson T, Verner A, Klanderman BJ, Freimer NB, Silverman EK, Celedón JC
Thorax 2007 Mar;62(3):224-30. Epub 2006 Nov 10 doi: 10.1136/thx.2006.067934. PMID: 17099076Free PMC Article

Prognosis

Epigenomic partitioning of a polygenic risk score for asthma reveals distinct genetically driven disease pathways.
Stikker B, Trap L, Sedaghati-Khayat B, de Bruijn MJW, van Ijcken WFJ, de Roos E, Ikram A, Hendriks RW, Brusselle G, van Rooij J, Stadhouders R
Eur Respir J 2024 Aug;64(2) Epub 2024 Aug 29 doi: 10.1183/13993003.02059-2023. PMID: 38901884Free PMC Article
Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma.
Acevedo N, Sääf A, Söderhäll C, Melén E, Mandelin J, Pietras CO, Ezer S, Karisola P, Vendelin J, Gennäs GB, Yli-Kauhaluoma J, Alenius H, von Mutius E, Doekes G, Braun-Fahrländer C, Riedler J, van Hage M, D'Amato M, Scheynius A, Pershagen G, Kere J, Pulkkinen V
PLoS One 2013;8(4):e60111. Epub 2013 Apr 2 doi: 10.1371/journal.pone.0060111. PMID: 23565190Free PMC Article

Clinical prediction guides

Epigenomic partitioning of a polygenic risk score for asthma reveals distinct genetically driven disease pathways.
Stikker B, Trap L, Sedaghati-Khayat B, de Bruijn MJW, van Ijcken WFJ, de Roos E, Ikram A, Hendriks RW, Brusselle G, van Rooij J, Stadhouders R
Eur Respir J 2024 Aug;64(2) Epub 2024 Aug 29 doi: 10.1183/13993003.02059-2023. PMID: 38901884Free PMC Article
Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma.
Acevedo N, Sääf A, Söderhäll C, Melén E, Mandelin J, Pietras CO, Ezer S, Karisola P, Vendelin J, Gennäs GB, Yli-Kauhaluoma J, Alenius H, von Mutius E, Doekes G, Braun-Fahrländer C, Riedler J, van Hage M, D'Amato M, Scheynius A, Pershagen G, Kere J, Pulkkinen V
PLoS One 2013;8(4):e60111. Epub 2013 Apr 2 doi: 10.1371/journal.pone.0060111. PMID: 23565190Free PMC Article
Polymorphisms of PHF11 and DPP10 are associated with asthma and related traits in a Chinese population.
Gao J, Li W, Willis-Owen SA, Jiang L, Ma Y, Tian X, Moffatt M, Cookson W, Lin Y, Zhang Y
Respiration 2010;79(1):17-24. Epub 2009 Aug 11 doi: 10.1159/000235545. PMID: 19672052
Interrelationships of quantitative asthma-related phenotypes in the Epidemiological Study on the Genetics and Environment of Asthma, Bronchial Hyperresponsiveness, and Atopy.
Oryszczyn MP, Bouzigon E, Maccario J, Siroux V, Nadif R, Wright A, Kauffmann F
J Allergy Clin Immunol 2007 Jan;119(1):57-63. Epub 2006 Nov 13 doi: 10.1016/j.jaci.2006.09.026. PMID: 17208586
A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.
Laitinen T, Daly MJ, Rioux JD, Kauppi P, Laprise C, Petäys T, Green T, Cargill M, Haahtela T, Lander ES, Laitinen LA, Hudson TJ, Kere J
Nat Genet 2001 May;28(1):87-91. doi: 10.1038/ng0501-87. PMID: 11326283

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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