ORIGINAL RESEARCH
Analysis of the polymorphic variants of ADRB2 gene association with the β2-agonists response in patients with a rare theratype of asthma
National Research Center Institute of Immunology of the Federal Medical-Biological Agency, Moscow, Russia
Correspondence should be addressed: Ksenia S. Pavlova
Kashirskoe shosse, 24, Moscow, 115522; moc.liamg@lacideminesk
Funding: the study was supported by the Russian Foundation for Basic Research as part of the Project #19-33-90076.
Acknowledgement: we would like to thank the Biomedicine Center for High-Precision Editing and Genetic Technologies of Pirogov Russian National Research Medical University (Moscow, Russia) for access to the molecular genetics systems.
Author contribution: Mdinaradze DS, Pavlova KS, Kurbacheva OM — selection of patients, clinical laboratory and instrumental examinations, collection of biological material; Kozlov IB, Kofiadi IA — development of the new PCR test system for analysis of the ADRB2 gene polymorphic variants, genetic testing execution.
Compliance with ethical standards: the study was approved by the ethics committee of the Institute of Immunology of the Federal Medical-Biological Agency (Minutes #13 of October 16, 2017); all patients signed voluntary consent to participate in the study.
- Hicks JK, Aquilante CL, Dunnenberger HM, Gammal RS, Funk RS, Aitken SL, Bright, et al. Precision Pharmacotherapy: Integrating Pharmacogenomics into Clinical Pharmacy Practice. Journal of the American College of Clinical Pharmacy: JACCP, 2019; 2 (3): 303–13. Available from: https://doi.org/10.1002/jac5.1118.
- Hüls A, Vanker A, Gray D, Koen N, MacIsaac JL, Lin DT, et al. Genetic susceptibility to asthma increases the vulnerability to indoor air pollution. Eur Respir J. 2020 Mar 26; 55 (3): 1901831. DOI: 10.1183/13993003.01831-2019. PMID: 31949118.
- Kabesch M, Tost J. Recent findings in the genetics and epigenetics of asthma and allergy. Semin Immunopathol. 2020; 42: 43–60. Available from: https://doi.org/10.1007/s00281-019-00777-w.
- Makoui MH, Imani D, Motallebnezhad M, Azimi M, Razi B. Vitamin D receptor gene polymorphism and susceptibility to asthma: Meta-analysis based on 17 case-control studies. Ann Allergy Asthma Immunol. 2020 Jan; 124 (1): 57–69. DOI: 10.1016/j. anai.2019.10.014. Epub 2019 Oct 22. PMID: 31654764.
- Perez-Garcia J, Espuela-Ortiz A, Lorenzo-Diaz F, Pino-Yanes M. Pharmacogenetics of Pediatric Asthma: Current Perspectives. Pharmgenomics Pers Med. 2020; 13: 89–103. Available from: doi.org/10.2147/PGPM.S201276.
- Hikino K, Shinobu Kobayashi S, Erika Ota E, Taisei Mushiroda T, Urayama K, Kobayashi T. A meta-analysis of the influence of ADRB2 genetic polymorphisms on albuterol (salbutamol) therapy in patients with asthma. British Journal of Clinical Pharmacology. Wiley Online Library, 2020. Available from: doi.org/10.1111/ bcp.14570.
- Karimi L, Vijverberg S, Engelkes M, Hernandez-Pacheco N, Farzan N, Soares P. ADRB2 haplotypes and risk of exacerbations in asthmatic children and young adults treated with long-acting ß2 - agonists: A meta-analysis in the PiCA consortium. Eur Respiratory Soc. 2019. DOI: 10.1183/13993003.congress-2019.PA5388.
- Yates AD, Achuthan P, Akanni W, Allen J, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Azov AG, Bennett R, et al. Ensembl 2020. Nucleic Acids Res. 2019. DOI: 10.1093/nar/gkz966.
- Akparova A, Aripova A, Abishev M, Kazhiyakhmetova B, Pirmanova A, Bersimbaev R. An investigation of the association between ADRB2 gene polymorphisms and asthma in Kazakh population. Clin Respir J. 2020 Jun; 14 (6): 514–20. DOI: 10.1111/ crj.13160. Epub 2020 Feb 27. PMID: 32034992.
- Khan I, Ul-Haq Z, Shaheen A, Zaman M, Ahmad N, Abbasi R, et al. Association of arg16gly and gln27glu, b2-adrenergic receptor gene polymorphism with asthma. A systematic review and metaanalysis of case control studies. J Pak Med Assoc. 2018 Jan; 68 (1): 90–97. PMID: 29371726.
- Vijverberg S, Farzan N, Slob E, Anne H. Neerincx, Anke H. Maitlandvan der Zee. Treatment response heterogeneity in asthma: the role of genetic variation, Expert Review of Respiratory Medicine. 2018; 12: 55–65, DOI: 10.1080/17476348.2018.1403318.
- Bleecker ER, Postma DS, Lawrance RM, Meyers DA, Ambrose HJ, Goldman M. Effect of ADRB2 polymorphisms on response to longacting beta2-agonist therapy: a pharmacogenetic analysis of two randomised studies. Lancet. 2007 Dec 22; 370 (9605): 2118– 25. DOI: 10.1016/S0140-6736(07)61906-0. PMID: 18156033.
- Bleecker ER, Yancey SW, Baitinger LA, Edwards LD, Klotsman M, Anderson WH, Dorinsky PM. Salmeterol response is not affected by beta2-adrenergic receptor genotype in subjects with persistent asthma. J Allergy Clin Immunol. 2006 Oct; 118 (4): 809–16. DOI: 10.1016/j.jaci.2006.06.036. Epub 2006 Aug 28. PMID: 17030231.
- Wechsler ME, Lehman E, Lazarus SC, Lemanske RF, Boushey HA, Deykin A, et al. β-Adrenergic receptor polymorphisms and response to salmeterol. American journal of respiratory and critical care medicine. 2006; 173 (5): 519–26. Available from: https://doi. org/10.1164/rccm.200509-1519OC.
- Slob EMA, Vijverberg SJH, Palmer CNA, Zazuli Z, Farzan N, Oliveri N, et al. Pharmacogenetics of inhaled long-acting beta2-agonists in asthma: a systematic review. Pediatric Allergy and Immunology. 2018; 29 (7): 705–14. Available from: https://doi.org/10.1111/ pai.12956.
- Zhang E, Levin AM, Williams LK. How does race and ethnicity effect the precision treatment of asthma? Expert Review of Precision Medicine and Drug Development. Taylor & Francis. 2019; 4 (6): 337–56.
- Pavlova K, Mdinaradze D, Kurbacheva O. The response variability of the asthma patients to the standard pharmacotherapy. Russian Journal of Allergy. 2019; 16 (2): 20–24.
- Ortega VE, Hawkins GA, Moore WC, Hastie AT, Ampleford EJ, Busse WW, et al. Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting — agonist treatment in a multiethnic asthma population: a genetic study. Lancet Respir Med. 2014 Mar; 2 (3): 204–13. DOI: 10.1016/ S2213-2600(13)70289-3. Epub 2014 Jan 27. PMID: 24621682; PMCID: PMC4053167.
- Savelieva ON, Karunas AS, Fedorova YuYu, Khusnutdinova EK. Farmakogenetika bronhial'noj astmy. Medicinskaja genetika. 2019; 18 (4): 3–23. Dostupno po ssylke: doi.org/10.25557/2073- 7998.2019.04. 3-23. Russian.
- Asanov AY, Namazova LS, Pinelis VG, Zhurkova NV, Voznesenskaya NI. Geneticheskie osnovy bronhial'noj astmy. Pediatricheskaja farmakologija. 2008; 5 (4): 31–33. Russian.
- Nikiforova AI, Abramov DD, Kadochnikova VV, Zobkova GU, Ogurtsova KA, Brjuhanova NO, et al. Determining the frequency of pah mutations in Moscow region residents with phenylketonuria using a combination of real-time PCR and next-generation sequencing. Bulletin of Russian State Medical University. 2017; 4: 38–44.
- Martinez ED, Graves PE, Baldini M, Solomon S, Erickson R. Association between genetic polymorphisms of the β2- adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest. 1997; 10: 3184–8. DOI:10.1172/JCI119874.
- Bateneva E, Maksimenko V, Kadochnikova V, Kofiadi I, Trofimov D, Ragimov A. Vyjavlenie mutacij v genah BRCA1 i BRCA2- perspektivnost' provedenija geneticheskogo skrininga na baze organizacij sluzhby krovi. Medicinskaja genetika. 2014; 13 (4): 30–34. Russian.
- Ambrosius WT, Lange EM, Langefeld CD. Power for genetic association studies with random allele frequencies and genotype distributions. Am J Hum Genet. 2004 Apr; 74 (4): 683–93. DOI: 10.1086/383282. Epub 2004 Mar 12. PMID: 15024689; PMCID: PMC1181944.
- Ryman N, Palm S, André C, Carvalho G Dahlgren T, Jorde P. Power for detecting genetic divergence: differences between statistical methods and marker loci. Molecular Ecology. Wiley Online Library. 2006; 15 (8): 2031–45. Available from: doi. org/10.1111/j.1365-294X.2006.02839.x.
- Green SA, Turki J, Innis M, Liggett SB. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry. 1994 Aug 16; 33 (32): 9414–9. DOI: 10.1021/bi00198a006. Erratum in: Biochemistry 1994 Nov 29; 33 (47): 14368. PMID: 7915137.
- Turner SW, Khoo SK, Laing IA, Palmer LJ, Gibson NA, Rye P, et al. β2- adrenoceptor Arg16Gly polymorphism, airway responsiveness, lung function and asthma in infants and children. Clin Exp Allergy. 2004; 34 (7): 1043–8. DOI: 10.1111/j.1365-2222.2004.02001.x.
- Finkelstein Y, Bournissen FG, Hutson JR, Shannon M. Polymorphism of the ADRB2 gene and response to inhaled betaagonists in children with asthma: a meta-analysis. J Asthma. 2009; 46 (9): 900–5. DOI:10.3109/02770900903199961.
- Jovicic N, Babic T, Dragicevic S, Nestorovic B, Nikolic A. ADRB2 gene polymorphisms and salbutamol responsiveness in serbian children with asthma. BJMG. 2018; 21: l33–138. DOI: 10.2478/ bjmg-2018-0007.
- Kofiadi IA, Kadochnikova VV, Abramov DD, Goncharova EV, Alekseev L P, Haitov RM. Chastota vstrechaemosti 100 klinicheski znachimyh odnonukleotidnyh polimorfizmov u zdorovyh predstavitelej russkoj populjacii. Fiziologija i patologija immunnoj sistemy. 2011; 15 (2): 3–9. Russian.
- Fedorova YuYu, Karunas AS, Murzina RR, Muhtarova LA, Ramazanova NN, Gimalova GF. Issledovanie associacii polimorfnyh variantov gena β2-adrenergicheskogo receptora sbronhial'noj astmoj u russkih. Pul'monologija. Antimikrobnaja terapija. 2013; 5 (74): 116–20. Russian.
- Park HW, Yang MS, Park CS, Kim TB, Moon HB, Min KU. Additive role of tiotropium in severe asthmatics and Arg16Gly in ADRB2 as a potential marker to predict response. Allergy 2009; (64): 778– 83. DOI: 10.1111/j.1398-9995.2008.01876.x.