The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study.
Humans
Caffeine
/ therapeutic use
Infant, Newborn
Prospective Studies
Female
Male
Case-Control Studies
Infant, Premature
Polymorphism, Single Nucleotide
Citrates
/ therapeutic use
Receptors, Dopamine
/ genetics
Receptors, Purinergic P1
/ genetics
Infant, Premature, Diseases
/ genetics
Apnea
/ genetics
Central Nervous System Stimulants
/ therapeutic use
Treatment Outcome
Adenosine receptor
Apnea of prematurity
Caffeine
Dopamine receptor
Nomogram
Polymorphism
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
29 Oct 2024
29 Oct 2024
Historique:
received:
28
12
2023
accepted:
22
09
2024
medline:
29
10
2024
pubmed:
29
10
2024
entrez:
29
10
2024
Statut:
epublish
Résumé
To investigate the potential influence of adenosine and dopamine receptor genes polymorphisms in combination with clinical factors on the response of preterm infants to caffeine citrate treatment in apnea of prematurity (AOP). A prospective nested case-control study enrolled 221 preterm infants with gestational age < 34 weeks. These infants were divided into the response (n = 160) and the non-response groups (n = 61). 22 single-nucleotide polymorphisms in adenosine and dopamine receptor genes were genotyped. The basic characteristics and clinical outcomes of the two groups were compared. Univariate logistic regression analysis was performed to evaluate the differences in genotype distribution between the groups. Multivariable logistic regression analysis was performed to identify independent risk and protective factors and develop a nomogram to predict caffeine citrate response in preterm infants. Preterm infants in the non-response group had lower gestational age, lower birth weight, longer periods of oxygen supplementation and caffeine citrate use, and higher incidence of patent ductus arteriosus (PDA), bronchopulmonary dysplasia (BPD), neonatal respiratory distress syndrome (NRDS), retinopathy of prematurity (ROP), and brain injury (P < 0.05 for all). The ADORA1 rs10920573, ADORA2B rs2015353, ADORA3 rs10776728, DRD3 rs7625282, and DRD3 rs6280 gene polymorphisms were associated with caffeine citrate response in preterm infants (P Adenosine receptor gene and dopamine receptor gene polymorphisms influence caffeine citrate treatment response in AOP. By combining genetic and clinical variables, it is possible to predict the response to caffeine citrate treatment in preterm infants.
Sections du résumé
BACKGROUND
BACKGROUND
To investigate the potential influence of adenosine and dopamine receptor genes polymorphisms in combination with clinical factors on the response of preterm infants to caffeine citrate treatment in apnea of prematurity (AOP).
METHODS
METHODS
A prospective nested case-control study enrolled 221 preterm infants with gestational age < 34 weeks. These infants were divided into the response (n = 160) and the non-response groups (n = 61). 22 single-nucleotide polymorphisms in adenosine and dopamine receptor genes were genotyped. The basic characteristics and clinical outcomes of the two groups were compared. Univariate logistic regression analysis was performed to evaluate the differences in genotype distribution between the groups. Multivariable logistic regression analysis was performed to identify independent risk and protective factors and develop a nomogram to predict caffeine citrate response in preterm infants.
RESULTS
RESULTS
Preterm infants in the non-response group had lower gestational age, lower birth weight, longer periods of oxygen supplementation and caffeine citrate use, and higher incidence of patent ductus arteriosus (PDA), bronchopulmonary dysplasia (BPD), neonatal respiratory distress syndrome (NRDS), retinopathy of prematurity (ROP), and brain injury (P < 0.05 for all). The ADORA1 rs10920573, ADORA2B rs2015353, ADORA3 rs10776728, DRD3 rs7625282, and DRD3 rs6280 gene polymorphisms were associated with caffeine citrate response in preterm infants (P
CONCLUSIONS
CONCLUSIONS
Adenosine receptor gene and dopamine receptor gene polymorphisms influence caffeine citrate treatment response in AOP. By combining genetic and clinical variables, it is possible to predict the response to caffeine citrate treatment in preterm infants.
Identifiants
pubmed: 39468580
doi: 10.1186/s13052-024-01776-w
pii: 10.1186/s13052-024-01776-w
doi:
Substances chimiques
Caffeine
3G6A5W338E
caffeine citrate
U26EO4675Q
Citrates
0
Receptors, Dopamine
0
Receptors, Purinergic P1
0
Central Nervous System Stimulants
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
225Subventions
Organisme : Xiamen Municipal Bureau of Science and Technology
ID : 3502Z20214ZD1225
Informations de copyright
© 2024. The Author(s).
Références
Eichenwald EC. Apnea of Prematurity. Pediatrics. 2016;137(1). https://doi.org/10.1542/peds.2015-3757 .
Chavez L, Bancalari E, Caffeine. Some of the evidence behind its use and abuse in the Preterm Infant. Neonatology. 2022;119(4):428–32. https://doi.org/10.1159/000525267 .
doi: 10.1159/000525267
pubmed: 35691280
Schmidt B, Roberts RS, Davis P, Doyle LW, Barrington KJ, Ohlsson A, et al. Caffeine therapy for apnea of prematurity. N Engl J Med. 2006;354(20):2112–21. https://doi.org/10.1056/NEJMoa054065 .
doi: 10.1056/NEJMoa054065
pubmed: 16707748
Schmidt B, Anderson PJ, Doyle LW, Dewey D, Grunau RE, Asztalos EV, et al. Survival without disability to age 5 years after neonatal caffeine therapy for apnea of prematurity. JAMA. 2012;307(3):275–82. https://doi.org/10.1001/jama.2011.2024 .
doi: 10.1001/jama.2011.2024
pubmed: 22253394
Schmidt B, Roberts RS, Anderson PJ, Asztalos EV, Costantini L, Davis PG, et al. Academic performance, motor function, and Behavior 11 years after neonatal caffeine citrate therapy for Apnea of Prematurity: an 11-Year follow-up of the CAP Randomized Clinical Trial. JAMA Pediatr. 2017;171(6):564–72. https://doi.org/10.1001/jamapediatrics.2017.0238 .
doi: 10.1001/jamapediatrics.2017.0238
pubmed: 28437520
He X, Qiu JC, Lu KY, Guo HL, Li L, Jia WW, et al. Therapy for Apnoea of Prematurity: a Retrospective Study on effects of Standard Dose and genetic variability on clinical response to Caffeine Citrate in Chinese Preterm infants. Adv Ther. 2021;38(1):607–26. https://doi.org/10.1007/s12325-020-01544-2 .
doi: 10.1007/s12325-020-01544-2
pubmed: 33180318
Long JY, Guo HL, He X, Hu YH, Xia Y, Cheng R, et al. Caffeine for the Pharmacological Treatment of Apnea of Prematurity in the NICU: dose selection conundrum, therapeutic drug monitoring and genetic factors. Front Pharmacol. 2021;12:681842. https://doi.org/10.3389/fphar.2021.681842 .
doi: 10.3389/fphar.2021.681842
pubmed: 34381359
pmcid: 8350115
Kumar VHS, Lipshultz SE. Caffeine and clinical outcomes in premature neonates. Child (Basel). 2019;6(11). https://doi.org/10.3390/children6110118 .
Kumral A, Tuzun F, Yesilirmak DC, Duman N, Ozkan H. Genetic basis of apnoea of prematurity and caffeine treatment response: role of adenosine receptor polymorphisms: genetic basis of apnoea of prematurity. Acta Paediatr. 2012;101(7):e299–303. https://doi.org/10.1111/j.1651-2227.2012.02664.x .
doi: 10.1111/j.1651-2227.2012.02664.x
pubmed: 22462821
Mokhtar WA, Fawzy A, Allam RM, Zidan N, Hamed MS. Association between adenosine receptor gene polymorphism and response to caffeine citrate treatment in apnea of prematurity; an Egyptian single-center study. Egypt Pediatr Association Gaz. 2018;66(4):115–20.
doi: 10.1016/j.epag.2018.09.001
Childs E, Hohoff C, Deckert J, Xu K, Badner J, de Wit H. Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Neuropsychopharmacology. 2008;33(12):2791–800. https://doi.org/10.1038/npp.2008.17 .
doi: 10.1038/npp.2008.17
pubmed: 18305461
Jobe AH, Bancalari E. Bronchopulmonary dysplasia. Am J Respir Crit Care Med. 2001;163(7):1723–9. https://doi.org/10.1164/ajrccm.163.7.2011060 .
doi: 10.1164/ajrccm.163.7.2011060
pubmed: 11401896
Bell MJ, Ternberg JL, Feigin RD, Keating JP, Marshall R, Barton L, et al. Neonatal necrotizing enterocolitis. Therapeutic decisions based upon clinical staging. Ann Surg. 1978;187(1):1–7. https://doi.org/10.1097/00000658-197801000-00001 .
doi: 10.1097/00000658-197801000-00001
pubmed: 413500
pmcid: 1396409
Chiang MF, Quinn GE, Fielder AR, Ostmo SR, Paul Chan RV, Berrocal A, et al. International classification of retinopathy of Prematurity, Third Edition. Ophthalmology. 2021;128(10):e51–68. https://doi.org/10.1016/j.ophtha.2021.05.031 .
doi: 10.1016/j.ophtha.2021.05.031
pubmed: 34247850
De Luca D, van Kaam AH, Tingay DG, Courtney SE, Danhaive O, Carnielli VP, et al. The Montreux definition of neonatal ARDS: biological and clinical background behind the description of a new entity. Lancet Respir Med. 2017;5(8):657–66. https://doi.org/10.1016/S2213-2600(17)30214-X .
doi: 10.1016/S2213-2600(17)30214-X
pubmed: 28687343
Subspecialty Group of Neonatology, the Society of Pediatric, Chinese Medical Association. Professional Committee of Infectious Diseases, Neonatology Society, Chinese Medical Doctor Association. Expert consensus on the diagnosis and management of neonatal sepsis (version 2019) [J]. Zhonghua Er Ke Za Zhi. 2019;57:252–7. https://doi.org/10.3760/cma.j.issn.0578-1310.2019.04.005.
doi: 10.3760/cma.j.issn.0578-1310.2019.04.005
Papile LA, Burstein J, Burstein R, Koffler H. Incidence and evolution of subependymal and intraventricular hemorrhage: a study of infants with birth weights less than 1,500 gm. J Pediatr. 1978;92(4):529–34. https://doi.org/10.1016/s0022-3476(78)80282-0 .
doi: 10.1016/s0022-3476(78)80282-0
pubmed: 305471
Ambalavanan N, Weese-Mayer DE, Hibbs AM, Claure N, Carroll JL, Moorman JR, et al. Cardiorespiratory Monitoring Data to predict respiratory outcomes in extremely Preterm infants. Am J Respir Crit Care Med. 2023;208(1):79–97. https://doi.org/10.1164/rccm.202210-1971OC .
doi: 10.1164/rccm.202210-1971OC
pubmed: 37219236
pmcid: 10870840
Yates N, Gunn AJ, Bennet L, Dhillon SK, Davidson JO. Preventing Brain Injury in the Preterm infant-current controversies and potential therapies. Int J Mol Sci. 2021;22(4). https://doi.org/10.3390/ijms22041671 .
Pirmohamed M. Pharmacogenomics: current status and future perspectives. Nat Rev Genet. 2023;24(6):350–62. https://doi.org/10.1038/s41576-022-00572-8 .
doi: 10.1038/s41576-022-00572-8
pubmed: 36707729
Borea PA, Gessi S, Merighi S, Vincenzi F, Varani K. Pharmacology of Adenosine receptors: the state of the art. Physiol Rev. 2018;98(3):1591–625. https://doi.org/10.1152/physrev.00049.2017 .
doi: 10.1152/physrev.00049.2017
pubmed: 29848236
Ribeiro JA, Sebastião AM. Caffeine and adenosine. Journal of Alzheimer’s disease. JAD. 2010;20(Suppl 1):S3–15. https://doi.org/10.3233/JAD-2010-1379 .
doi: 10.3233/JAD-2010-1379
pubmed: 20164566
Atik A, Harding R, De Matteo R, Kondos-Devcic D, Cheong J, Doyle LW, et al. Caffeine for apnea of prematurity: effects on the developing brain. Neurotoxicology. 2017;58:94–102. https://doi.org/10.1016/j.neuro.2016.11.012 .
doi: 10.1016/j.neuro.2016.11.012
pubmed: 27899304
Beaulieu JM, Gainetdinov RR. The physiology, signaling, and pharmacology of dopamine receptors. Pharmacol Rev. 2011;63(1):182–217. https://doi.org/10.1124/pr.110.002642 .
doi: 10.1124/pr.110.002642
pubmed: 21303898
Acevedo J, Santana-Almansa A, Matos-Vergara N, Marrero-Cordero LR, Cabezas-Bou E, Díaz-Ríos M. Caffeine stimulates locomotor activity in the mammalian spinal cord via adenosine A1 receptor-dopamine D1 receptor interaction and PKA-dependent mechanisms. Neuropharmacology. 2016;101:490–505. https://doi.org/10.1016/j.neuropharm.2015.10.020 .
doi: 10.1016/j.neuropharm.2015.10.020
pubmed: 26493631
Ferré S, Bonaventura J, Tomasi D, Navarro G, Moreno E, Cortés A, et al. Allosteric mechanisms within the adenosine A2A-dopamine D2 receptor heterotetramer. Neuropharmacology. 2016;104:154–60. https://doi.org/10.1016/j.neuropharm.2015.05.028 .
doi: 10.1016/j.neuropharm.2015.05.028
pubmed: 26051403
Torvinen M, Marcellino D, Canals M, Agnati LF, Lluis C, Franco R, et al. Adenosine A2A receptor and dopamine D3 receptor interactions: evidence of functional A2A/D3 heteromeric complexes. Mol Pharmacol. 2005;67(2):400–7. https://doi.org/10.1124/mol.104.003376 .
doi: 10.1124/mol.104.003376
pubmed: 15539641
Ferré S. An update on the mechanisms of the psychostimulant effects of caffeine. J Neurochem. 2008;105(4):1067–79. https://doi.org/10.1111/j.1471-4159.2007.05196.x .
doi: 10.1111/j.1471-4159.2007.05196.x
pubmed: 18088379
Zahniser NR, Simosky JK, Mayfield RD, Negri CA, Hanania T, Larson GA, et al. Functional uncoupling of adenosine A(2A) receptors and reduced responseto caffeine in mice lacking dopamine D2 receptors. J Neurosci. 2000;20(16):5949–57. https://doi.org/10.1523/JNEUROSCI.20-16-05949.2000 .
doi: 10.1523/JNEUROSCI.20-16-05949.2000
pubmed: 10934242
pmcid: 6772613
Nehlig A. Interindividual Differences in Caffeine Metabolism and factors driving caffeine consumption. Pharmacol Rev. 2018;70(2):384–411. https://doi.org/10.1124/pr.117.014407 .
doi: 10.1124/pr.117.014407
pubmed: 29514871
Aldossary HS, Alzahrani AA, Nathanael D, Alhuthail EA, Ray CJ, Batis N, et al. G-Protein-coupled receptor (GPCR) signaling in the carotid body: roles in Hypoxia and Cardiovascular and Respiratory Disease. Int J Mol Sci. 2020;21(17). https://doi.org/10.3390/ijms21176012 .
Lalley PM. Opioidergic and dopaminergic modulation of respiration. Respir Physiol Neurobiol. 2008;164(1–2):160–7. https://doi.org/10.1016/j.resp.2008.02.004 .
doi: 10.1016/j.resp.2008.02.004
pubmed: 18394974
pmcid: 2642894
Nsegbe E, Wallén-Mackenzie A, Dauger S, Roux JC, Shvarev Y, Lagercrantz H, et al. Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice. J Physiol. 2004;556(Pt 1):43–59. https://doi.org/10.1113/jphysiol.2003.058560 .
doi: 10.1113/jphysiol.2003.058560
pubmed: 14742729
pmcid: 1664884
Lochman J, Balcar VJ, Sťastný F, Serý O. Preliminary evidence for association between schizophrenia and polymorphisms in the regulatory regions of the ADRA2A, DRD3 and SNAP-25 genes. Psychiatry Res. 2013;205(1–2):7–12. https://doi.org/10.1016/j.psychres.2012.08.003 .
doi: 10.1016/j.psychres.2012.08.003
pubmed: 22940547
Chukwueke CC, Kowalczyk WJ, Di Ciano P, Gendy M, Taylor R, Heishman SJ, et al. Exploring the role of the Ser9Gly (rs6280) dopamine D3 receptor polymorphism in nicotine reinforcement and cue-elicited craving. Sci Rep. 2020;10(1):4085. https://doi.org/10.1038/s41598-020-60940-4 .
doi: 10.1038/s41598-020-60940-4
pubmed: 32139730
pmcid: 7058013
Zhao J, Bian J, Zhao Y, Li Y, Liu B, Hao X, et al. Pharmacogenetic aspects of drug metabolizing enzymes and transporters in Pediatric Medicine: study progress, clinical practice and future perspectives. Paediatr Drugs. 2023;25(3):301–19. https://doi.org/10.1007/s40272-023-00560-3 .
doi: 10.1007/s40272-023-00560-3
pubmed: 36707496
Serra G, Giuffrè M, Piro E, Corsello G. The social role of pediatrics in the past and present times. Ital J Pediatr. 2021;47(1):239. https://doi.org/10.1186/s13052-021-01190-6 .
doi: 10.1186/s13052-021-01190-6
pubmed: 34922600
pmcid: 8684095
Serra G, Antona V, Schierz M, Vecchio D, Piro E, Corsello G. Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. Clin case Rep. 2018;6(2):399–401. https://doi.org/10.1002/ccr3.1103 .
doi: 10.1002/ccr3.1103
pubmed: 29445485
pmcid: 5799623
Piro E, Serra G, Schierz IAM, Giuffrè M, Corsello G. Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital. Ital J Pediatr. 2020;46(1):72. https://doi.org/10.1186/s13052-020-00836-1 .
doi: 10.1186/s13052-020-00836-1
pubmed: 32448340
pmcid: 7247239
Serra G, Antona V, Giuffrè M, Piro E, Salerno S, Schierz IAM, Corsello G. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles. Ital J Pediatr. 2022;48(1):38. https://doi.org/10.1186/s13052-022-01232-7 .
doi: 10.1186/s13052-022-01232-7
pubmed: 35246213
pmcid: 8896361
Piro E, Serra G, Schierz IAM, Giuffrè M, Corsello G. Fetal growth restriction: a growth pattern with fetal, neonatal and long-term consequences. Euromediterranean Biomedical Journal. 2019,14 (09) 038–044. http://doi.org/10.3269/1970-5492.2019.14.09.42.
Schierz IAM, Serra G, Antona V, Persico I, Corsello G, Piro E. Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. Clinical dysmorphology. 2020;29(3):141-3. https://doi.org/10.1097/MCD.0000000000000325 .
Serra G, Antona V, D’Alessandro MM, Maggio MC, Verde V, Corsello G. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town. Ital J Pediatr. 2021;47(1):138. https://doi.org/10.1186/s13052-021-01080-x .
doi: 10.1186/s13052-021-01080-x
pubmed: 34134742
pmcid: 8207710
Serra G, Felice S, Antona V, Di Pace MR, Giuffrè M, Piro E, Corsello G. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene. Ital J Pediatr. 2022;48(1):65. https://doi.org/10.1186/s13052-022-01241-6 .
doi: 10.1186/s13052-022-01241-6
pubmed: 35509048
pmcid: 9069788
Piro E, Serra G, GiuffrèM, Schierz IAM, Corsello G. 2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype. Clin Case Rep. 2021;9:e04289. https://doi.org/10.1002/ccr3.4289 .
doi: 10.1002/ccr3.4289