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Asthma-related traits, susceptibility to, 1

MedGen UID:
339547
•Concept ID:
C1846534
•
Disease or Syndrome
Synonym: ASTHMA SUSCEPTIBILITY 1
 
Gene (location): PTGDR (14q22.1)
 
Monarch Initiative: MONDO:0011805
OMIM®: 607277

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; Pillai et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807. [from OMIM]

Recent clinical studies

Etiology

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
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
Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma.
Ma X, Wang P, Xu G, Yu F, Ma Y
BMC Med Genomics 2020 Aug 31;13(1):123. doi: 10.1186/s12920-020-00768-z. PMID: 32867763Free 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
Association between interleukin-1 receptor antagonist gene and asthma-related traits in a German adult population.
Pattaro C, Heinrich J, Werner M, de Marco R, Wjst M
Allergy 2006 Feb;61(2):239-44. doi: 10.1111/j.1398-9995.2006.00988.x. PMID: 16409203

Diagnosis

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children.
Tulah AS, Holloway JW, Sayers I
BMC Med Genet 2013 Sep 25;14:100. doi: 10.1186/1471-2350-14-100. PMID: 24066901Free 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

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

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children.
Tulah AS, Holloway JW, Sayers I
BMC Med Genet 2013 Sep 25;14:100. doi: 10.1186/1471-2350-14-100. PMID: 24066901Free 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
Association of urokinase-type plasminogen activator with asthma and atopy.
Bégin P, Tremblay K, Daley D, Lemire M, Claveau S, Salesse C, Kacel S, Montpetit A, Becker A, Chan-Yeung M, Kozyrskyj AL, Hudson TJ, Laprise C
Am J Respir Crit Care Med 2007 Jun 1;175(11):1109-16. Epub 2007 Mar 15 doi: 10.1164/rccm.200607-1012OC. PMID: 17363771
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.
Raby BA, Silverman EK, Lazarus R, Lange C, Kwiatkowski DJ, Weiss ST
Hum Mol Genet 2003 Aug 15;12(16):1973-9. doi: 10.1093/hmg/ddg208. PMID: 12913068

Clinical prediction guides

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children.
Tulah AS, Holloway JW, Sayers I
BMC Med Genet 2013 Sep 25;14:100. doi: 10.1186/1471-2350-14-100. PMID: 24066901Free 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
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.
Raby BA, Silverman EK, Lazarus R, Lange C, Kwiatkowski DJ, Weiss ST
Hum Mol Genet 2003 Aug 15;12(16):1973-9. doi: 10.1093/hmg/ddg208. PMID: 12913068
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

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    Clinical resources

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    • ClinVar
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      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
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      Related literature resources in PubMed
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