ADRB2 gene polymorphism and preterm labor
https://doi.org/10.37489/2588-0527-2021-1-9-17
Abstract
This article discusses issues related to the role of polymorphism of the ADRB2 gene encoding β2-adrenergic receptor in preterm labor and tocolysis. Information is provided on scientific studies related to the search for associations of the carriage of alleles and genotypes of ADRB2 with the preterm labor, as well as with the pharmacological response to tocolytic therapy using β2-adrenergic agonists. The history of the discovery of the relationship of ADRB2 gene polymorphisms with preterm labor is presented in chronological order. As scientific facts emerge, researchers are faced with the question: how can ADRB2 gene polymorphisms affect physiological processes? That is, whether they affect by changing the primary structure of the receptor or by changing the level of expression. Depending on the answer to this question, pharmacogenetics are faced with a further task: what to study - individual polymorphisms or haplotypes?
About the Authors
R. E. Kazakov
FSBI «SCEEMP» of the Ministry of Health of the Russian Federation; Russian Medical Academy of Continuing Professional Education
Russian Federation
Russian Federation
Kazakov Ruslan Ye., Cand. Sci. (Biol.), Head of the Department of Personalized Medicine and Clinical Pharmacogenetics CCP
Moscow
R. A. Chilova
Russian Medical Academy of Continuing Professional Education
Russian Federation
Russian Federation
Chilova Raisa A., Dr. Sci. (Med.), Associate Professor, Professor of the Department of Obstetrics and Gynecology
Moscow
K. O. Akopov
S.S. Yudin State Clinical Hospital of the Moscow Department of Health Care» women’s consultation No. 3
Russian Federation
Russian Federation
Akopov Konstantin O., doctor obstetrician-gynecologist
Moscow
E. A. Sokova
FSBI «SCEEMP» of the Ministry of Health of the Russian Federation; Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Sokova Elena A., Cand. Sci. (Med.), Associate Professor; lead analyst CCP
Moscow
References
1. Blencowe H, Krasevec J, de Onis M et al. National, regional, and worldwide estimates of low birthweight in 2015, with trends from 2000: a systematic analysis. Lancet Glob Health. 2019 Jul;7(7):e849-e860. DOI: 10.1016/S2214-109X(18)30565-5.
2. Sheikh IA, Ahmad E, Jamal MS et al. Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update. BMC Genomics. 2016;17(Suppl 9):759. DOI: 10.1186/s12864-016-3089-0.
3. Goldenberg RL, Culhane JF, Iams JD, Romero R. Epidemiology and causes of preterm birth. Lancet. 2008 Jan 5;371(9606):75–84. DOI: 10.1016/S0140-6736(08)60074-4.
4. Crider KS, Whitehead N, Buus RM. Genetic variation associated with preterm birth: A HuGE. Genet Med. 2005 Nov-Dec;7(9):593–604. DOI: 10.1097/01.gim.0000187223.69947.db.
5. Ip M, Peyman E, Lohsoonthorn V et al. A Case-Control Study of Preterm Delivery Risk Factors According to Clinical Subtypes and Severity. J Obstet Gynaecol Res. 2010 February; 36(1):34–44. DOI:10.1111/ j.1447-0756.2009.01087.x.
6. Varner MW, Esplin MS. Current understanding of genetic factors in preterm birth. BJOG. 2005 Mar;112 Suppl 1:28–31. DOI: 10.1111/ j.1471-0528.2005.00581.x.
7. Plunkett J, Muglia LJ. Genetic contributions to preterm birth: implications from epidemiological and genetic association studies. Ann Med. 2008;40(3):167–195. DOI: 10.1080/07853890701806181.
8. Plunkett J, Borecki I, Morgan T, Stamilio D, Muglia LJ. Populationbased estimate of sibling risk for preterm birth, preterm premature rupture of membranes, placental abruption and pre-eclampsia. BMC Genet. 2008;9:44. DOI: 10.1186/1471-2156-9-44.
9. Weinberg CR, Shi M. The genetics of preterm birth: using what we know to design better association studies. Am J Epidemiol. 2009;170(11):1373–1381. DOI: 10.1093/aje/kwp325.
10. Treloar SA, Macones GA, Mitchell LE, Martin NG. Genetic influences on premature parturition in an Australian twin sample. Twin Res. 2000;3(2): 80–82. DOI: 10.1375/136905200320565526.
11. York TP, Eaves LJ, Lichtenstein P et al. Fetal and maternal genes’ influence on gestational age in a quantitative genetic analysis of 244,000 Swedish births. Am J Epidemiol. 2013 Aug 15;178(4):543–550. DOI: 10.1093/aje/kwt005.
12. Zhang G, Feenstra B, Bacelis J et al. Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. N Engl J Med. 2017;377(12):1156–1167. DOI: 10.1056/NEJMoa1612665.
13. Savelieva ON, Karunas AS, Fedorova YuYu, Khusnutdinova EK. The role of β2-adrenergic receptor gene (ADRB2) polymorphisms in asthma. Meditsinskiy vestnik Bashkortostana. 2018;13(5(77)):69–75. (In Russ).
14. Hopes E, McDougall C, Christie G et al. Association of glutamine 27 polymorphism of beta 2 adrenoceptor with reported childhood asthma: population based study. BMJ. 1998 Feb 28;316(7132):664. DOI: 10.1136/bmj.316.7132.664.
15. Ishiyama-Shigemoto S, Yamada K et al. Association of polymorphisms in the β2-adrenergic receptor gene with obesity, hypertriglyceridaemia, and diabetes mellitus. Diabetologia. 1999; 42(1):98–101. DOI: 10.1007/s001250051120.
16. Bray MS, Krushkal J, Li L et al. Positional genomic analysis identifies the β2-adrenergic receptor gene as a susceptibility locus for human hypertension. Circulation. 2000 Jun 27;101(25):2877–2882. DOI: 10.1161/01.cir.101.25.2877.
17. Cagliani R, Fumagalli M, Pozzoli U et al. Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet. 2009;85(1):64–75. DOI: 10.1016/j.ajhg.2009.06.005.
18. Dishy V, Sofowora GG, Xie HG et al. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med. 2001; 345(14):1030–1035. DOI: 10.1056/NEJMoa010819.
19. Landau R, Xie HG, Dishy V et al. Beta2-Adrenergic receptor genotype and preterm delivery. Am J Obstet Gynecol. 2002 Nov;187(5):1294–1298. DOI: 10.1067/mob.2002.128524.PMID: 12439523.
20. Drysdale CM, McGraw DW, Stack CB et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10483–10488. DOI: 10.1073/pnas.97.19.10483.
21. Ratge D, Wiedemann A, Kohse KP, Wisser H. Alterations of betaadrenoceptors on human leukocyte subsets induced by dynamic exercise: effect of prednisone. Clin Exp Pharmacol Physiol. 1988;15(1):43–53. DOI: 10.1111/j.1440-1681.1988.tb01007.x.
22. Murray DR, Irwin M, Rearden CA et al. Sympathetic and immune interactions during dynamic exercise. Mediation via a beta2-adrenergicdependent mechanism. Circulation. 1992; 86(1):203–213. DOI: 10.1161/01.cir.86.1.203.
23. Panebra A, Wang WC, Malone MM et al. Common ADRB2 haplotypes derived from 26 polymorphic sites direct beta2-adrenergic receptor expression and regulation phenotypes. PLoS One. 2010;5(7): e11819. DOI: 10.1371/journal.pone.0011819.
24. Ozkur M, Dogulu F, Ozkur A et al. Association of the Gln27Glu polymorphism of the beta-2-adrenergic receptor with preterm labor. Int J Gynaecol Obstet. 2002;77(3):209–215. DOI: 10.1016/s0020-7292(02)00035-8.
25. Doh K, Sziller I, Vardhana S. Beta2-adrenergic receptor gene polymorphisms and pregnancy outcome. J Perinat Med. 2004;32(5):413–417. DOI: 10.1515/JPM.2004.138.
26. Lima JJ, Thomason DB, Mohamed MH et al. Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics. Clin Pharmacol Ther. 1999; 65(5):519–525. DOI: 10.1016/S0009-9236(99)70071-8.
27. Landau R, Morales MA, Antonarakis SE et al. Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor. Clin Pharmacol Ther. 2005;78(6):656–663. DOI: 10.1016/j.clpt.2005.08.021.
28. Gibson CS, maclennan AH, Dekker GA et al. Genetic polymorphisms and spontaneous preterm birth. Obstet Gynecol. 2007 Feb;109(2 Pt 1):384–391. DOI: 10.1097/01.AOG.0000252712.62241.1a.
29. Ríos JC, McEwen JG, Cuartas A et al. Evaluación del efecto de cuatro polimorfismos en el gen del receptor adrenérgico β2 en el parto pretérmino. Colomb Med. 2008;39:7-15. [Ríos JC, McEwen JG, Cuartas A et al. Role of four polymorphisms of the β-2 adrenergic receptor gen in patients with preterm delivery. Colomb Med. 2008;39:7–15. (In Spanish).].
30. Miller RS, Smiley RM, Daniel D et al. Beta-2 adrenoceptor genotype and progress in term and late preterm active labor. Am J Obstet Gynecol. 2011;205(2):137.e1–7. DOI: 10.1016/j.ajog.2011.03.045.
31. Park YJ, Lee NR, Lee KE et al. Effects of β2-Adrenergic Receptor Gene Polymorphisms on Ritodrine Therapy in Pregnant Women with Preterm Labor: Prospective Follow-Up Study. Int J Mol Sci. 2014. 21;15(7):12885–12894. DOI: 10.3390/ijms150712885.
32. Chung JE, Choi SA, Hwang HS et al. Association between β2- adrenergic receptor gene polymorphisms and adverse events of ritodrine in the treatment of preterm labor: a prospective observational study. BMC Genet. 2017 Nov 13;18(1):96. DOI: 10.1186/s12863-017-0565-8.
33. Sukhikh GT, Khodzhaeva ZS, Donnikov AE et al. Molecular genetic predictors of the efficiency of tocolytic therapy in pregnancy prolongation in threatened preterm labor. Obstetrics and gynecology. 2014;2:27–34. (In Russ).
34. Proklova GF, Sokova EA, Kazakov RE et al. Chilova RA, Zhukova EV, Akopov KO. Polymorphism of the ADRB2 gene as a predictor of preterm birth. Vopr. ginekol. akus. perinatol. (Gynecology, Obstetrics and Perinatology). 2021;20(2):5–12. (In Russ). DOI: 10.20953/1726-1678-2021-2-5-12.
35. Roberts AK, Monzon-Bordonaba F, Van Deerlin PG et al. Association of polymorphism within the promoter of the tumor necrosis factor alpha gene with increased risk of preterm premature rupture of the fetal membranes. Am J Obstet Gynecol. 1999;180(5):1297–1302. DOI: 10.1016/s0002-9378(99)70632-0.
36. Moore S, Ide M, Randhawa M et al. An investigation into the association among preterm birth, cytokine gene polymorphisms and periodontal disease. BJOG. 2004;111(2):125–132. DOI: 10.1046/ j.1471-0528.2003.00024.x-i1.
37. Anum EA, Hill LD, Pandya A, Strauss JF. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta. 2009;30(3):207–215. DOI: 10.1016/j.placenta.2008.12.007.
Review
For citations:
Kazakov R.E., Chilova R.A., Akopov K.O., Sokova E.A. ADRB2 gene polymorphism and preterm labor. Pharmacogenetics and Pharmacogenomics. 2021;(1):9-17. (In Russ.) https://doi.org/10.37489/2588-0527-2021-1-9-17
Views:
734
Email this article 
Post a Comment 