Abstract Apnea of prematurity (AOP) is one of the common diseases in preterm infants. The main cause of AOP is immature development of the respiratory control center. If AOP is not treated timely and effectively, it will lead to respiratory failure, hypoxic brain injury, and even death in severe cases. Caffeine is the first choice for the treatment of AOP, but its effectiveness varies in preterm infants. With the deepening of AOP research, more and more genetic factors have been confirmed to play important roles in the pathogenesis and treatment of AOP; in particular, the influence of single nucleotide polymorphism on the efficacy of caffeine has become a research hotspot in recent years. This article reviews the gene polymorphisms that affect the efficacy of caffeine, in order to provide a reference for individualized caffeine therapy. Citation:
Corresponding Authors:
Lin X-Z,E-mail:xinzhufj@163.com
E-mail: xinzhufj@163.com
Cite this article:
XIE Jiang-Biao,LIN Xin-Zhu. Recent research on gene polymorphisms related to caffeine therapy in preterm infants with apnea of prematurity[J]. CJCP, 2022, 24(7): 832-837.
XIE Jiang-Biao,LIN Xin-Zhu. Recent research on gene polymorphisms related to caffeine therapy in preterm infants with apnea of prematurity[J]. CJCP, 2022, 24(7): 832-837.
Eichenwald EC; Committee on Fetus and Newborn, American Academy of Pediatrics. Apnea of prematurity[J]. Pediatrics, 2016, 137(1): e20153757. PMID: 26628729. DOI: 10.1542/peds.2015-3757.
Tamim H, Khogali M, Beydoun H, et al. Consanguinity and apnea of prematurity[J]. Am J Epidemiol, 2003, 158(10): 942-946. PMID: 14607801. DOI: 10.1093/aje/kwg226.
Bloch-Salisbury E, Hall MH, Sharma P, et al. Heritability of apnea of prematurity: a retrospective twin study[J]. Pediatrics, 2010, 126(4): e779-e787. PMID: 20837586. DOI: 10.1542/peds.2010-0084.
Kumral A, Tuzun F, Yesilirmak DC, et al. Genetic basis of apnoea of prematurity and caffeine treatment response: role of adenosine receptor polymorphisms: genetic basis of apnoea of prematurity[J]. Acta Paediatr, 2012, 101(7): e299-e303. PMID: 22462821. DOI: 10.1111/j.1651-2227.2012.02664.x.
Laouafa S, Iturri P, Arias-Reyes C, et al. Erythropoietin and caffeine exert similar protective impact against neonatal intermittent hypoxia: apnea of prematurity and sex dimorphism[J]. Exp Neurol, 2019, 320: 112985. PMID: 31254520. DOI: 10.1016/j.expneurol.2019.112985.
Rosen C, Taran C, Hanna M, et al. Caffeine citrate for apnea of prematurity-one dose does not fit all a prospective study[J]. J Perinatol, 2021, 41(9): 2292-2297. PMID: 34290376. DOI: 10.1038/s41372-021-01172-w.
14 Mokhtar WA, Fawzy A, Allam RM, et al. Association between adenosine receptor gene polymorphism and response to caffeine citrate treatment in apnea of prematurity; an Egyptian single-center study[J]. Egypt Pediatr Assoc Gaz, 2018, 66(4): 115-120. DOI: 10.1016/j.epag.2018.09.001.
Nehlig A. Interindividual differences in caffeine metabolism and factors driving caffeine consumption[J]. Pharmacol Rev, 2018, 70(2): 384-411. PMID: 29514871. DOI: 10.1124/pr.117.014407.
Deb PK, Deka S, Borah P, et al. Medicinal chemistry and therapeutic potential of agonists, antagonists and allosteric modulators of A1 adenosine receptor: current status and perspectives[J]. Curr Pharm Des, 2019, 25(25): 2697-2715. PMID: 31333094. DOI: 10.2174/1381612825666190716100509.
He X, Qiu JC, Lu KY, 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[J]. Adv Ther, 2021, 38(1): 607-626. PMID: 33180318. DOI: 10.1007/s12325-020-01544-2.
Al-Attraqchi OHA, Attimarad M, Venugopala KN, et al. Adenosine A2A receptor as a potential drug target—current status and future perspectives[J]. Curr Pharm Des, 2019, 25(25): 2716-2740. PMID: 31333093. DOI: 10.2174/1381612825666190716113444.
Rodenburg EM, Eijgelsheim M, Geleijnse JM, et al. CYP1A2 and coffee intake and the modifying effect of sex, age, and smoking[J]. Am J Clin Nutr, 2012, 96(1): 182-187. PMID: 22648710. DOI: 10.3945/ajcn.111.027102.
Gao XB, Zheng Y, Yang F, et al. Developmental population pharmacokinetics of caffeine in Chinese premature infants with apnoea of prematurity: a post-marketing study to support paediatric labelling in China[J]. Br J Clin Pharmacol, 2021, 87(3): 1155-1164. PMID: 32687613. DOI: 10.1111/bcp.14483.
Song G, Sun X, Hines RN, et al. Determination of human hepatic CYP2C8 and CYP1A2 age-dependent expression to support human health risk assessment for early ages[J]. Drug Metab Dispos, 2017, 45(5): 468-475. PMID: 28228413. DOI: 10.1124/dmd.116.074583.
Coffee and Caffeine Genetics Consortium, Cornelis MC, Byrne EM, et al. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption[J]. Mol Psychiatry, 2015, 20(5): 647-656. PMID: 25288136. PMCID: PMC4388784. DOI: 10.1038/mp.2014.107.
Ishii M, Ishii Y, Nakayama T, et al. 13C-caffeine breath test identifies single nucleotide polymorphisms associated with caffeine metabolism[J]. Drug Metab Pharmacokinet, 2020, 35(3): 321-328. PMID: 32303460. DOI: 10.1016/j.dmpk.2020.03.003.
Gracia E, Farré D, Cortés A, et al. The catalytic site structural gate of adenosine deaminase allosterically modulates ligand binding to adenosine receptors[J]. FASEB J, 2013, 27(3): 1048-1061. PMID: 23193172. DOI: 10.1096/fj.12-212621.
Mazzotti DR, Guindalini C, Pellegrino R, et al. Effects of the adenosine deaminase polymorphism and caffeine intake on sleep parameters in a large population sample[J]. Sleep, 2011, 34(3): 399-402. PMID: 21359089. PMCID: PMC3041717. DOI: 10.1093/sleep/34.3.399.
Schuch JB, Genro JP, Bastos CR, et al. The role of CLOCK gene in psychiatric disorders: evidence from human and animal research[J]. Am J Med Genet B Neuropsychiatr Genet, 2018, 177(2): 181-198. PMID: 28902457. DOI: 10.1002/ajmg.b.32599.
Li Y, Cao Z, Wu S, et al. Association between the CLOCK gene polymorphism and depressive symptom mediated by sleep quality among non-clinical Chinese Han population[J]. J Affect Disord, 2022, 298(Pt A): 217-223. PMID: 34715159. DOI: 10.1016/j.jad.2021.10.070.
SHEN Wei, ZHENG Zhi, LIN Xin-Zhu, WU Fan, TIAN Qian-Xin, CUI Qi-Liang, YUAN Yuan, REN Ling, MAO Jian, SHI Bi-Zhen, WANG Yu-Mei, LIU Ling, ZHANG Jing-Hui, CHANG Yan-Mei, TONG Xiao-Mei, ZHU Yan, ZHANG Rong, YE Xiu-Zhen, ZOU Jing-Jing, LI Huai-Yu, ZHAO Bao-Yin, QIU Yin-Ping, LIU Shu-Hua, MA Li, XU Ying, CHENG Rui, ZHOU Wen-Li, WU Hui, LIU Zhi-Yong, CHEN Dong-Mei, GAO Jin-Zhi, LIU Jing, CHEN Ling, LI Cong, YANG Chun-Yan, XU Ping, ZHANG Ya-Yu, HU Si-Le, MEI Hua, YANG Zu-Ming, FENG Zong-Tai, WANG San-Nan, MENG Er-Yan, SHANG Li-Hong, XU Fa-Lin, OU Shao-Ping, JU Rong. Incidence of extrauterine growth retardation and its risk factors in very preterm infants during hospitalization: a multicenter prospective study[J]. CJCP, 2022, 24(2): 132-140.