184
Views
0
CrossRef citations to date
0
Altmetric
ORIGINAL RESEARCH

CES1 and SLC6A2 Genetic Variants As Predictors of Response To Methylphenidate in Autism Spectrum Disorders

ORCID Icon, , , , ORCID Icon, ORCID Icon, , , , , , & ORCID Icon show all
Pages 951-957 | Received 02 Jun 2022, Accepted 21 Oct 2022, Published online: 08 Nov 2022

References

  • World Health Organization WHO. Geneva, Switzerland: WHO Media center. Available from: https://www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders. Accessed May 19, 2022.
  • Loomes R, Hull L, Mandy WPL. What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. J Am Acad Child Adolesc Psychiatry. 2017;56(6):466–474. doi:10.1016/j.jaac.2017.03.013
  • Hervas A. Un autismo, varios autismos. Variabilidad fenotipica en los trastornos del espectro autista [One autism, several autisms. Phenotypical variability in autism spectrum disorders]. Rev Neurol. 2016;62(Suppl 1):S9–S14.
  • Sharma SR, Gonda X, Tarazi FI. Autism spectrum disorder: classification, diagnosis and therapy. Pharmacol Ther. 2018;190:91–104. doi:10.1016/j.pharmthera.2018.05.007
  • Brown JT, Eum S, Cook EH, Bishop JR. Pharmacogenomics of autism spectrum disorder. Pharmacogenomics. 2017;18(4):403–414. doi:10.2217/pgs-2016-0167
  • Antshel KM, Russo N. Autism spectrum disorders and ADHD: overlapping phenomenology, diagnostic issues, and treatment considerations. Curr Psychiatry Rep. 2019;21(5):34. doi:10.1007/s11920-019-1020-5
  • Sturman N, Deckx L, van Driel ML. Methylphenidate for children and adolescents with autism spectrum disorder. Cochrane Database Syst Rev. 2017;11(11):CD011144. doi:10.1002/14651858.CD011144.pub2
  • Research Units on Pediatric Psychopharmacology Autism Network. Randomized, controlled, crossover trial of methylphenidate in pervasive developmental disorders with hyperactivity. Arch Gen Psychiatry. 2005;62(11):1266–1274. doi:10.1001/archpsyc.62.11.1266.
  • Arranz MJ, Perez-Blanco J, Arias B. Pharmacogenetics of the efficacy of antipsychotic drugs in Schizophrenia. In: Rybakowski J, Serretti A, editors. Genetic Influences on Response to Drug Treatment for Major Psychiatric Disorders. Switzerland: Adis; 2016.
  • Fabbri C, Di Girolamo G, Serretti A Pharmacogenetics of antidepressant drugs: an update after almost 20 years of research. Am J Med Genet B Neuropsychiatr Genet. 2013;162B(6):487–520. doi:10.1002/ajmg.b.32184
  • Stevens T, Sangkuhl K, Brown JT, Altman RB, Klein TE PharmGKB summary: methylphenidate pathway, pharmacokinetics/pharmacodynamics. Pharmacogenet Genomics. 2019;29(6):136–154. doi:10.1097/FPC.0000000000000376
  • Gomez-Sanchez CI, Carballo JJ, Riveiro-Alvarez R, et al. Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects. Sci Rep. 2017;7(1):10391.doi:10.1038/s41598-017-10912-y
  • Joensen B, Meyer M, Aagaard L Specific genes associated with adverse events of methylphenidate use in the pediatric population: a systematic literature review. J Res Pharm Pract. 2017;6(2):65–72. doi:10.4103/jrpp.JRPP_16_161
  • Stein MA, Waldman I, Newcorn J, Bishop J, Kittles R, Cook EH Jr. Dopamine transporter genotype and stimulant dose-response in youth with attention-deficit/hyperactivity disorder. J Child Adolesc Psychopharmacol. 2014;24(5):238–244. doi:10.1089/cap.2013.0102
  • Angyal N, Horvath EZ, Tarnok Z, et al. Association analysis of norepinephrine transporter polymorphisms and methylphenidate response in ADHD patients. Prog Neuropsychopharmacol Biol Psychiatry. 2018;84(Pt A):122–128. doi:10.1016/j.pnpbp.2018.01.013
  • Marshe VS, Maciukiewicz M, Rej S, et al. Norepinephrine transporter gene variants and remission from depression with venlafaxine treatment in older adults. Am J Psychiatry. 2017;174(5):468–475. doi:10.1176/appi.ajp.2016.16050617
  • Thakur GA, Sengupta SM, Grizenko N, Choudhry Z, Joober R. Comprehensive phenotype/genotype analyses of the norepinephrine transporter gene (SLC6A2) in ADHD: relation to maternal smoking during pregnancy. PLoS One. 2012;7(11):e49616. doi:10.1371/journal.pone.0049616
  • Song J, Kim SW, Hong HJ, et al. Association of SNAP-25, SLC6A2, and LPHN3 with OROS methylphenidate treatment response in attention-deficit/hyperactivity disorder. Clin Neuropharmacol. 2014;37(5):136–141. doi:10.1097/WNF.0000000000000045
  • Park S, Kim JW, Yang YH, et al. Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder. Behav Brain Funct. 2012;8:22. doi:10.1186/1744-9081-8-22
  • Song J, Song DH, Jhung K, Cheon KA. Norepinephrine transporter gene (SLC6A2) is involved with methylphenidate response in Korean children with attention deficit hyperactivity disorder. Int Clin Psychopharmacol. 2011;26(2):107–113. doi:10.1097/YIC.0b013e32834152d1
  • Myer NM, Boland JR, Faraone SV. Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD. Mol Psychiatry. 2018;23(9):1929–1936. doi:10.1038/mp.2017.234
  • Yang L, Wang YF, Li J, Faraone SV. Association of norepinephrine transporter gene with methylphenidate response. J Am Acad Child Adolesc Psychiatry. 2004;43(9):1154–1158. doi:10.1097/01.chi.0000131134.63368.46
  • Sun Z, Murry DJ, Sanghani SP, et al. Methylphenidate is stereoselectively hydrolyzed by human carboxylesterase CES1A1. J Pharmacol Exp Ther. 2004;310(2):469–476. doi:10.1124/jpet.104.067116
  • Ming X, Gordon E, Kang N, Wagner GC. Use of clonidine in children with autism spectrum disorders. Brain Dev. 2008;30(7):454–460. doi:10.1016/j.braindev.2007.12.007
  • Whirl-Carrillo M, Huddart R, Gong L, et al. An evidence-based framework for evaluating pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther. 2021;110(3):563–572. doi:10.1002/cpt.2350
  • Stage C, Dalhoff K, Rasmussen HB, et al. The impact of human CES1 genetic variation on enzyme activity assessed by ritalinic acid/methylphenidate ratios. Basic Clin Pharmacol Toxicol. 2019;125(1):54–61. doi:10.1111/bcpt.13212
  • Zhao Z, Li X, Sun S, et al. Impact of genetic polymorphisms related to clopidogrel or acetylsalicylic acid pharmacology on clinical outcome in Chinese patients with symptomatic extracranial or intracranial stenosis. Eur J Clin Pharmacol. 2016;72(10):1195–1204. doi:10.1007/s00228-016-2094-1
  • Xiao FY, Luo JQ, Liu M, et al. Effect of carboxylesterase 1 S75N on clopidogrel therapy among acute coronary syndrome patients. Sci Rep. 2017;7(1):7244. doi:10.1038/s41598-017-07736-1
  • Dimatteo C, D’Andrea G, Vecchione G, et al. Pharmacogenetics of dabigatran etexilate interindividual variability. Thromb Res. 2016;144:1–5. doi:10.1016/j.thromres.2016.05.025
  • Johnson KA, Barry E, Lambert D, et al. Methylphenidate side effect profile is influenced by genetic variation in the attention-deficit/hyperactivity disorder-associated CES1 gene. J Child Adolesc Psychopharmacol. 2013;23(10):655–664. doi:10.1089/cap.2013.0032
  • Labriet A, Lévesque É, De Mattia E, et al. Combination of germline variations associated with survival of folinic acid, fluorouracil and irinotecan-treated metastatic colorectal cancer patients. Pharmacogenomics. 2019;20(17):1179–1187. doi:10.2217/pgs-2019-0091
  • Yang L, Qian Q, Liu L, Li H, Faraone SV, Wang Y. Adrenergic neurotransmitter system transporter and receptor genes associated with atomoxetine response in attention-deficit hyperactivity disorder children. J Neural Transm. 2013;120(7):1127–1133. doi:10.1007/s00702-012-0955-z
  • Vizeli P, Meyer Zu Schwabedissen HE, Liechti ME. No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA. Eur J Clin Pharmacol. 2018;74(3):275–283. doi:10.1007/s00228-017-2392-2
  • Hervas A, Serra-LLovich A, Rueda I, et al. Pharmacogenetic influences on the response to pharmacological treatment in autism spectrum disorders. J Transl Genet Genom. 2021;5:278–287. doi:10.20517/jtgg.2021.25
  • Bruxel EM, Salatino-Oliveira A, Genro JP, et al. Association of a carboxylesterase 1 polymorphism with appetite reduction in children and adolescents with attention-deficit/hyperactivity disorder treated with methylphenidate. Pharmacogenomics J. 2013;13(5):476–480. doi:10.1038/tpj.2012.25
  • Nemoda Z, Angyal N, Tarnok Z, Gadoros J, Sasvari-Szekely M. Carboxylesterase 1 gene polymorphism and methylphenidate response in ADHD. Neuropharmacology. 2009;57(7–8):731–733. doi:10.1016/j.neuropharm.2009.08.014