The Genetic risk of asthma: a review of reports on the effect of single nucleotide polymorphisms detected by genome-wide association study on the development and course of asthma using the genes: ORMDL3, ADAM33, DENND1B as examples
DOI:
https://doi.org/10.12775/JEHS.2023.36.01.003Keywords
asthma, SNP, GWAS, ORMDL3, ADAM33, DENND1BAbstract
Asthma, an inflammatory disease of the lower and upper airways, is one of the most common diseases in society. Depending on the source and the population studied, the percentage of asthma patients ranges from 5% to as high as 15%. The development of asthma is believed to be caused by an overlap between the body's personal propensity to develop the disease and environmental factors. For years, scientists have been studying the genetic basis of asthma. For several years they have had a new weapon in their arsenal - the GWAS method. The use of this method has enabled researchers to discover the relationship between gene variants found in patients and an increased risk of developing asthma.
References
Mims, J. W. (2015). Asthma: definitions and pathophysiology. International Forum of Allergy & Rhinology, 5(S1), S2–S6. doi:10.1002/alr.21609
Graziottin A, Serafini A. Perimenstrual asthma: from pathophysiology to treatment strategies. Multidiscip Respir Med. 2016 Aug 1;11:30. doi: 10.1186/s40248-016-0065-0. PMID: 27482380; PMCID: PMC4967997
A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nat Genet. 1997 Apr;15(4):389-92. doi: 10.1038/ng0497-389. Erratum in: Nat Genet. 2020 Oct 22;: PMID: 9090385.
M.D. Gans, T. Gavrilova, Understanding the Immunology of Asthma: Pathophysiology, Biomarkers, and Treatments for Asthma Endotypes, Paediatric Respiratory Reviews (2019), doi: https://doi.org/10.1016/j.prrv.2019.08.002
Busse WW, et al. Expert Panel Report Three. Guidelines for the diagnosis and management of asthma. National Institutes of Health; 2007
Chakir J, Shannon J, Molet S, et al. Airway remodeling-associated mediators in moderate to severe asthma: effect of steroids on TGF-beta, IL-11, IL-17, and type I and type III collagen expression. J Allergy Clin Immunol 2003;111:1293–8
Maslan J, Mims JW. What is asthma? Pathophysiology, demographics, and health care costs. Otolaryngol Clin North Am. 2014 Feb;47(1):13-22. doi: 10.1016/j.otc.2013.09.010. Epub 2013 Nov 1. PMID: 24286675.
Maslan J, Mims JW. What is asthma? Pathophysiology, demographics, and health care costs. Otolaryngol Clin North Am. 2014 Feb;47(1):13-22. doi: 10.1016/j.otc.2013.09.010. Epub 2013 Nov 1. PMID: 24286675.
Uffelmann, E., Huang, Q.Q., Munung, N.S. et al. Genome-wide association studies. Nat Rev Methods Primers 1, 59 (2021). https://doi.org/10.1038/s43586-021-00056-9
Flint J. GWAS. Curr Biol. 2013 Apr 8;23(7):R265-6. doi: 10.1016/j.cub.2013.01.040. PMID: 23578868
Gautam Y, Afanador Y, Ghandikota S, Mersha TB. Comprehensive functional annotation of susceptibility variants associated with asthma. Hum Genet. 2020 Aug;139(8):1037-1053. doi: 10.1007/s00439-020-02151-5. Epub 2020 Apr 2. Erratum in: Hum Genet. 2020 May 4;: PMID: 32240371; PMCID: PMC7415519.
Ntontsi P, Photiades A, Zervas E, Xanthou G, Samitas K. Genetics and Epigenetics in Asthma. Int J Mol Sci. 2021 Feb 27;22(5):2412. doi: 10.3390/ijms22052412. PMID: 33673725; PMCID: PMC7957649.
Koppelman GH. Gene by environment interaction in asthma. Curr Allergy Asthma Rep. 2006 Mar;6(2):103-11. doi: 10.1007/s11882-006-0047-y. PMID: 16566859.
Stein MM, Thompson EE, Schoettler N, Helling BA, Magnaye KM, Stanhope C, Igartua C, Morin A, Washington C 3rd, Nicolae D, Bønnelykke K, Ober C. A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle. J Allergy Clin Immunol. 2018 Sep;142(3):749-764.e3. doi: 10.1016/j.jaci.2017.12.974. Epub 2018 Jan 4. PMID: 29307657; PMCID: PMC6172038.
Bouzigon E, Corda E, Aschard H, Dizier MH, Boland A, Bousquet J, et al. Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med 2008;359:1985–94
Daya M, Rafaels N, Brunetti TM, Chavan S, Levin AM, Shetty A, Gignoux CR, Boorgula MP, Wojcik G, Campbell M, Vergara C, Torgerson DG, Ortega VE, Doumatey A, Johnston HR, Acevedo N, Araujo MI, Avila PC, Belbin G, Bleecker E, Bustamante C, Caraballo L, Cruz A, Dunston GM, Eng C, Faruque MU, Ferguson TS, Figueiredo C, Ford JG, Gan W, Gourraud PA, Hansel NN, Hernandez RD, Herrera-Paz EF, Jiménez S, Kenny EE, Knight-Madden J, Kumar R, Lange LA, Lange EM, Lizee A, Maul P, Maul T, Mayorga A, Meyers D, Nicolae DL, O'Connor TD, Oliveira RR, Olopade CO, Olopade O, Qin ZS, Rotimi C, Vince N, Watson H, Wilks RJ, Wilson JG, Salzberg S, Ober C, Burchard EG, Williams LK, Beaty TH, Taub MA, Ruczinski I, Mathias RA, Barnes KC; CAAPA. Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations. Nat Commun. 2019 Feb 20;10(1):880. doi: 10.1038/s41467-019-08469-7. Erratum in: Nat Commun. 2019 Sep 4;10(1):4082. PMID: 30787307; PMCID: PMC6382865.
Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448:470–3.
Tripathi P, Awasthi S, Gao P. ADAM metallopeptidase domain 33 (ADAM33): a promising target for asthma. Mediators Inflamm. 2014;2014:572025. doi: 10.1155/2014/572025. Epub 2014 Apr 10. PMID: 24817794; PMCID: PMC4003756.
Holgate ST, Yang Y, Haitchi HM, Powell RM, Holloway JW, Yoshisue H, Pang YY, Cakebread J, Davies DE. The genetics of asthma: ADAM33 as an example of a susceptibility gene. Proc Am Thorac Soc. 2006 Jul;3(5):440-3. doi: 10.1513/pats.200603-026AW. PMID: 16799089.
Simpson A, Maniatis N, Jury F, Cakebread JA, Lowe LA, Holgate ST, Woodcock A, Ollier WE, Collins A, Custovic A, et al. Polymorphisms in a disintegrin and metalloprotease 33 (ADAM33) predict impaired early-life lung function. Am J Respir Crit Care Med 2005;172:55–60.
Fiuza BSD, Silva MJ, Alcântara-Neves NM, Barreto ML, Costa RDS, Figueiredo CA. Polymorphisms in DENND1B gene are associated with asthma and atopy phenotypes in Brazilian children. Mol Immunol. 2017 Oct;90:33-41. doi: 10.1016/j.molimm.2017.06.030. Epub 2017 Jun 29. PMID: 28668455.
Barreto-Luis A, Pino-Yanes M, Corrales A, Campo P, Callero A, Acosta-Herrera M, Cumplido J, Ma SF, Martinez-Tadeo J, Villar J, Garcia JG, Carrillo T, Carracedo Á, Blanca M, Flores C. Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene. J Allergy Clin Immunol. 2016 Mar;137(3):964-6. doi: 10.1016/j.jaci.2015.09.051. Epub 2015 Nov 24. PMID: 26620591.
Van Eerdewegh P, Little RD, Dupuis J, Del Mastro RG, Falls K, Simon J, Torrey D, Pandit S, McKenny J, Braunschweiger K, Walsh A, Liu Z, Hayward B, Folz C, Manning SP, Bawa A, Saracino L, Thackston M, Benchekroun Y, Capparell N, Wang M, Adair R, Feng Y, Dubois J, FitzGerald MG, Huang H, Gibson R, Allen KM, Pedan A, Danzig MR, Umland SP, Egan RW, Cuss FM, Rorke S, Clough JB, Holloway JW, Holgate ST, Keith TP. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature. 2002 Jul 25;418(6896):426-30. doi: 10.1038/nature00878. Epub 2002 Jul 10. PMID: 12110844.
James B, Milstien S, Spiegel S. ORMDL3 and allergic asthma: From physiology to pathology. J Allergy Clin Immunol. 2019 Sep;144(3):634-640. doi: 10.1016/j.jaci.2019.07.023. Epub 2019 Jul 31. PMID: 31376405; PMCID: PMC6910079.
Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS. Orm family proteins mediate sphingolipid homeostasis. Nature. 2010 Feb 25;463(7284):1048-53. doi: 10.1038/nature08787. PMID: 20182505; PMCID: PMC2877384.
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Copyright (c) 2023 Marcin Zaniuk, Kamil Hurkała, Dominika Antonik, Barbara Denys, Karolina Góra, Wojciech Zdziennicki, Patryk Zimnicki, Marta Lato, Konrad Iberszer, Maria Litwiniuk
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