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Inherited susceptibility to asthma

MedGen UID:
358271
Concept ID:
C1869116
Finding
Synonyms: ASTHMA, BRONCHIAL; Asthma, susceptibility to; ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO
 
Genes (locations): ALOX5 (10q11.21); CCL11 (17q12); HLA-G (6p22.1); HNMT (2q22.1); IL13 (5q31.1); MUC7 (4q13.3); SCGB3A2 (5q32); TNF (6p21.33)
 
Monarch Initiative: MONDO:0010940
OMIM®: 600807

Definition

Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. 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). See 147050 for information on the asthma-associated phenotype atopy. [from OMIM]

Additional description

From MedlinePlus Genetics
Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. Allergens are harmless substances that the body's immune system mistakenly reacts to as though they are harmful. Common allergens include pollen, dust, animal dander, and mold. The immune response leads to the symptoms of asthma. Allergic asthma is the most common form of the disorder.

A hallmark of asthma is bronchial hyperresponsiveness, which means the airways are especially sensitive to irritants and respond excessively. Because of this hyperresponsiveness, attacks can be triggered by irritants other than allergens, such as physical activity, respiratory infections, or exposure to tobacco smoke, in people with allergic asthma.

An asthma attack is characterized by tightening of the muscles around the airways (bronchoconstriction), which narrows the airway and makes breathing difficult. Additionally, the immune reaction can lead to swelling of the airways and overproduction of mucus. During an attack, an affected individual can experience chest tightness, wheezing, shortness of breath, and coughing. Over time, the muscles around the airways can become enlarged (hypertrophied), further narrowing the airways.

Some people with allergic asthma have another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a series of allergic disorders, referred to as the atopic march. Development of these conditions typically follows a pattern, beginning with eczema (atopic dermatitis), followed by food allergies, then hay fever, and finally asthma. However, not all individuals with asthma have progressed through the atopic march, and not all individuals with one allergic disease will develop others.  https://medlineplus.gov/genetics/condition/allergic-asthma

Clinical features

From HPO
Airway hyperresponsiveness
MedGen UID:
11196
Concept ID:
C0035228
Pathologic Function
An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.
Bronchoconstriction
MedGen UID:
36266
Concept ID:
C0079043
Organ or Tissue Function
Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.

Professional guidelines

PubMed

Oyoshi M, Chinthrajah RS
Front Immunol 2020;11:1937. Epub 2020 Aug 21 doi: 10.3389/fimmu.2020.01937. PMID: 32973797Free PMC Article
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Joint Task Force on Practice Parameters; American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology; Joint Council of Allergy, Asthma and Immunology
Ann Allergy Asthma Immunol 2010 Oct;105(4):259-273. doi: 10.1016/j.anai.2010.08.002. PMID: 20934625

Curated

UK NICE Guideline NG80, Asthma: diagnosis, monitoring and chronic asthma management, 2021

Recent clinical studies

Etiology

Ntontsi P, Photiades A, Zervas E, Xanthou G, Samitas K
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052412. PMID: 33673725Free PMC Article
Miethe S, Karsonova A, Karaulov A, Renz H
J Allergy Clin Immunol 2020 Oct;146(4):685-693. doi: 10.1016/j.jaci.2020.08.011. PMID: 33032723
Schoettler N, Strek ME
Chest 2020 Mar;157(3):516-528. Epub 2019 Oct 31 doi: 10.1016/j.chest.2019.10.009. PMID: 31678077Free PMC Article
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article
Toskala E, Kennedy DW
Int Forum Allergy Rhinol 2015 Sep;5 Suppl 1(Suppl 1):S11-6. doi: 10.1002/alr.21557. PMID: 26335830Free PMC Article

Diagnosis

Ahn K, Penn RB, Rattan S, Panettieri RA Jr, Voight BF, An SS
Am J Respir Crit Care Med 2023 Jan 15;207(2):130-137. doi: 10.1164/rccm.202205-0951OC. PMID: 36214830Free PMC Article
Schoettler N, Strek ME
Chest 2020 Mar;157(3):516-528. Epub 2019 Oct 31 doi: 10.1016/j.chest.2019.10.009. PMID: 31678077Free PMC Article
Pividori M, Schoettler N, Nicolae DL, Ober C, Im HK
Lancet Respir Med 2019 Jun;7(6):509-522. Epub 2019 Apr 27 doi: 10.1016/S2213-2600(19)30055-4. PMID: 31036433Free PMC Article
Kuruvilla ME, Lee FE, Lee GB
Clin Rev Allergy Immunol 2019 Apr;56(2):219-233. doi: 10.1007/s12016-018-8712-1. PMID: 30206782Free PMC Article
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article

Therapy

Schoettler N, Strek ME
Chest 2020 Mar;157(3):516-528. Epub 2019 Oct 31 doi: 10.1016/j.chest.2019.10.009. PMID: 31678077Free PMC Article
Zhu Z, Guo Y, Shi H, Liu CL, Panganiban RA, Chung W, O'Connor LJ, Himes BE, Gazal S, Hasegawa K, Camargo CA Jr, Qi L, Moffatt MF, Hu FB, Lu Q, Cookson WOC, Liang L
J Allergy Clin Immunol 2020 Feb;145(2):537-549. Epub 2019 Oct 24 doi: 10.1016/j.jaci.2019.09.035. PMID: 31669095Free PMC Article
Kuruvilla ME, Lee FE, Lee GB
Clin Rev Allergy Immunol 2019 Apr;56(2):219-233. doi: 10.1007/s12016-018-8712-1. PMID: 30206782Free PMC Article
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article
Martinez FD, Vercelli D
Lancet 2013 Oct 19;382(9901):1360-72. Epub 2013 Sep 13 doi: 10.1016/S0140-6736(13)61536-6. PMID: 24041942

Prognosis

Ntontsi P, Photiades A, Zervas E, Xanthou G, Samitas K
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052412. PMID: 33673725Free PMC Article
Kuruvilla ME, Lee FE, Lee GB
Clin Rev Allergy Immunol 2019 Apr;56(2):219-233. doi: 10.1007/s12016-018-8712-1. PMID: 30206782Free PMC Article
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043Free PMC Article
Weidinger S, Beck LA, Bieber T, Kabashima K, Irvine AD
Nat Rev Dis Primers 2018 Jun 21;4(1):1. doi: 10.1038/s41572-018-0001-z. PMID: 29930242
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article

Clinical prediction guides

Stikker BS, Hendriks RW, Stadhouders R
Allergy 2023 Apr;78(4):940-956. Epub 2023 Feb 15 doi: 10.1111/all.15666. PMID: 36727912
Ntontsi P, Photiades A, Zervas E, Xanthou G, Samitas K
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052412. PMID: 33673725Free PMC Article
Pividori M, Schoettler N, Nicolae DL, Ober C, Im HK
Lancet Respir Med 2019 Jun;7(6):509-522. Epub 2019 Apr 27 doi: 10.1016/S2213-2600(19)30055-4. PMID: 31036433Free PMC Article
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article
Guilbert TW, Mauger DT, Lemanske RF Jr
J Allergy Clin Immunol Pract 2014 Nov-Dec;2(6):664-70. Epub 2014 Nov 6 doi: 10.1016/j.jaip.2014.09.010. PMID: 25439355

Recent systematic reviews

Antonino M, Nicolò M, Jerome Renee L, Federico M, Chiara V, Stefano S, Maria S, Salvatore C, Antonio B, Calvo-Henriquez C, Stefania S, La Mantia I
Clin Otolaryngol 2022 Jan;47(1):14-23. Epub 2021 Nov 7 doi: 10.1111/coa.13870. PMID: 34599556
Imani D, Dashti N, Parvari A, Shafiekhani S, Alebrahim F, Razi B, Makoui MH, Motallebnezhad M, Aslani S, Aliyu M
Biochem Genet 2021 Oct;59(5):1089-1115. Epub 2021 Mar 23 doi: 10.1007/s10528-021-10056-9. PMID: 33755871
Exley D, Norman A, Hyland M
Eur Respir Rev 2015 Jun;24(136):299-305. doi: 10.1183/16000617.00004114. PMID: 26028641Free PMC Article
Qian X, Gao Y, Ye X, Lu M
Hum Immunol 2014 Aug;75(8):847-53. Epub 2014 Jun 19 doi: 10.1016/j.humimm.2014.06.007. PMID: 24952213
Ali Z, Ulrik CS
Respir Med 2013 Sep;107(9):1287-300. Epub 2013 May 1 doi: 10.1016/j.rmed.2013.03.019. PMID: 23642708

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG80, Asthma: diagnosis, monitoring and chronic asthma management, 2021

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