Dikkat Eksikliği ve Hiperaktivite Bozukluğu ve Genetik

Akyol Ardıç, Ü., Ercan, E. S., Aygüneş, D., Yüce, D., Durak, S., & Kosova, B. (2017). Response With Methylphenidate to ADHD-Like Symptoms in Pervasive Developmental Disorder: Does CES-1 Enzyme Gene Polymorphism Have a Role?. Turkish journal of psychiatry, 28(2), 89–94.

Bolat, H., Ercan, E. S., Ünsel-Bolat, G., Tahillioğlu, A., Yazici, K. U., Bacanli, A., Pariltay, E., Aygüneş Jafari, D., Kosova, B., Özgül, S., Rohde, L. A., & Akin, H. (2020). DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 42(6), 630–637.

Brikell, I., Kuja-Halkola, R. & Larsson, H. Heritability of attention-deficit hyperactivity disorder in adults. Am. J. Med. Genet. B Neuropsychiatr. Genet. 168, 406–413 (2015).

Brown JT, Bishop JR (2015) Atomoxetine pharmacogenetics: associations with pharmacokinetics, treatment response and tolerability. Pharmacogenomics 16:1513–1520

Brown JT, Bishop JR, Sangkuhl K et al (2019) Clinical pharmacogenetics implementation consortium guideline for cytochrome P450 (CYP)2D6 genotype and atomoxetine therapy. Clin Pharmacol Ther 106:94–102.

Brown JT. The Pharmacogenetic Impact on the Pharmacokinetics of ADHD Medications. Methods Mol Biol. 2022;2547:427-436. doi: 10.1007/978-1-0716-2573-6_15. PMID: 36068472.

Christiansen GB, Andersen KH, Riis S, et al. The sorting receptor SorCS3 is a stronger regulator of glutamate receptor functions compared to GABAergic mechanisms in the hippocampus. Hippocampus 2017; 27:235–248.

Clements CC, Wenger TL, Zoltowski AR, et al. Critical region within 22q11.2 linked to higher rate of autism spectrum disorder. Mol Autism 2017; 8:1–17.

Çoğulu, Ö. (2017). Tıbbi Genetik Laboratuvar ve Klinik. Ankara: Nobel Tıp Kitabevi, 226-230.

Demontis D, Walters RK, Martin J, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat Genet 2019; 51:63–75.

Demontis, D. et al. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nat. Genet. 55, 198–208 (2023).

de Vries PJ, Hunt A, Bolton PF. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC). Eur Child Adolesc Psychiatry. 2007;16(1):16–24. Interesting insiqght into pleotropic effects of 22q11 deletion and duplication. 22q11 is seen as a model syndrome for genetic causes in psychiatry.

Elsayed, N. A., Yamamoto, K. M., & Froehlich, T. E. (2020). Genetic influence on efficacy of pharmacotherapy for pediatric attention-deficit/hyperactivity disorder: overview and current status of research. CNS drugs, 34, 389-414.

Ercan, E. S., Suren, S., Bacanlı, A., Yazici, K. U., Callı, C., Ozyurt, O., Aygunes, D., Kosova, B., Franco, A. R., & Rohde, L. A. (2016). Decreasing ADHD phenotypic heterogeneity: searching for neurobiological underpinnings of the restrictive inattentive phenotype. European child & adolescent psychiatry, 25(3), 273–282.

Faraone, S. V. & Larsson, H. Genetics of attention deficit hyperactivity disorder. Mol. Psychiatry 24, 562–575 (2018).

Faraone, S. V., Bellgrove, M. A., Brikell, I., Cortese, S., Hartman, C. A., Hollis, C., ... & Buitelaar, J. K. (2024). Attention-deficit/hyperactivity disorder (Primer). Nature Reviews: Disease Primers, 10(1), 11.

Gidziela, A. et al. A meta-analysis of genetic efects associated with neurodevelopmental disorders and co-occurring conditions. Nat. Hum. Behav. 7, 642–656 (2023).

Hayman V, Fernandez TV. Genetic insights into ADHD biology. Front Psychiatry 2018; 9:251.

Her L, Zhu H-J (2020) Carboxylesterase 1 and precision pharmacotherapy:pharmacogenetics and nongenetic regulators. Drug Metab Dispos Biol Fate Chem 48:230–244.

Kast RJ, Lanjewar AL, Smith CD, Levitt P. FOXP2 exhibits projection neuron class specific expression, but is not required for multiple aspects of cortical histogenesis. Elife 2019; 8:e42012.

Kayl AE, Moore BD. Behavioral phenotype of neurofibromatosis, type 1. Ment Retard Dev Disabil Res Rev. 2000;6(2):117–24.

Kranz, T. M., & Grimm, O. (2023). Update on genetics of attention deficit/hyperactivity disorder: current status 2023. Current opinion in psychiatry, 36(3), 257-262.

Lai CSL, Gerrelli D, Monaco AP, et al. FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 2003; 126:2455–2462.

Lo-Castro A, D’Agati E, Curatolo P. ADHD and genetic syndromes. Brain Dev. 2011;33(6):456–61.

Martin J, Hosking G, Wadon M, et al. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Transl Psychiatry 2020; 10:1–6.

Merali Z, Ross S, Pare´ G (2014) The pharmacogenetics of carboxylesterases: CES1 and CES2 genetic variants and their clinical effect. Drug Metabol Drug Interact 29:143–151.

Nehme R, Pietila¨inen O, Artomov M, et al. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia. Nat Comm 2022; 13:1360.

Polderman, T. J. et al. Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nat. Genet. 47, 702–709 (2015).

Robertson MM, Shelley BP, Dalwai S, et al. A patient with both Gilles de la Tourette’s syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette’s syndrome? J Psychosom Res 2006;61:365–368.

Satterstrom, F. K. et al. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat. Neurosci. 22,1961–1965 (2019).

Shao, L., Akkari, Y., Cooley, L. D., Miller, D. T., Seifert, B. A., Wolff, D. J., ... & ACMG Laboratory Quality Assurance Committee documents@ acmg. net. (2021). Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23(10), 1818-1829.

Stevens T, Sangkuhl K, Brown JT et al (2019) PharmGKB summary: methylphenidate pathway, pharmacokinetics/pharmacodynamics. Pharmacogenet Genomics 29:136–154.

Subkhangulova A, Malik AR, Hermey G, et al. SORCS1 and SORCS3 control energy balance and orexigenic peptide production. EMBO Rep 2018; 19:e44810.

Yang T, Bernabeu R, Xie Y, et al. Leukocyte antigen-related protein tyrosine phosphatase receptor: a small ectodomain isoform functions as a homophilic ligand and promotes neurite outgrowth. J Neurosci 2003; 23:3353–3363.

Akyol Ardıç, Ü., Ercan, E. S., Aygüneş, D., Yüce, D., Durak, S., & Kosova, B. (2017). Response With Methylphenidate to ADHD-Like Symptoms in Pervasive Developmental Disorder: Does CES-1 Enzyme Gene Polymorphism Have a Role?. Turkish journal of psychiatry, 28(2), 89–94.

Bolat, H., Ercan, E. S., Ünsel-Bolat, G., Tahillioğlu, A., Yazici, K. U., Bacanli, A., Pariltay, E., Aygüneş Jafari, D., Kosova, B., Özgül, S., Rohde, L. A., & Akin, H. (2020). DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 42(6), 630–637.

Brikell, I., Kuja-Halkola, R. & Larsson, H. Heritability of attention-deficit hyperactivity disorder in adults. Am. J. Med. Genet. B Neuropsychiatr. Genet. 168, 406–413 (2015).

Brown JT, Bishop JR (2015) Atomoxetine pharmacogenetics: associations with pharmacokinetics, treatment response and tolerability. Pharmacogenomics 16:1513–1520

Brown JT, Bishop JR, Sangkuhl K et al (2019) Clinical pharmacogenetics implementation consortium guideline for cytochrome P450 (CYP)2D6 genotype and atomoxetine therapy. Clin Pharmacol Ther 106:94–102.

Brown JT. The Pharmacogenetic Impact on the Pharmacokinetics of ADHD Medications. Methods Mol Biol. 2022;2547:427-436. doi: 10.1007/978-1-0716-2573-6_15. PMID: 36068472.

Christiansen GB, Andersen KH, Riis S, et al. The sorting receptor SorCS3 is a stronger regulator of glutamate receptor functions compared to GABAergic mechanisms in the hippocampus. Hippocampus 2017; 27:235–248.

Clements CC, Wenger TL, Zoltowski AR, et al. Critical region within 22q11.2 linked to higher rate of autism spectrum disorder. Mol Autism 2017; 8:1–17.

Çoğulu, Ö. (2017). Tıbbi Genetik Laboratuvar ve Klinik. Ankara: Nobel Tıp Kitabevi, 226-230.

Demontis D, Walters RK, Martin J, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat Genet 2019; 51:63–75.

Demontis, D. et al. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nat. Genet. 55, 198–208 (2023).

de Vries PJ, Hunt A, Bolton PF. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC). Eur Child Adolesc Psychiatry. 2007;16(1):16–24. Interesting insiqght into pleotropic effects of 22q11 deletion and duplication. 22q11 is seen as a model syndrome for genetic causes in psychiatry.

Elsayed, N. A., Yamamoto, K. M., & Froehlich, T. E. (2020). Genetic influence on efficacy of pharmacotherapy for pediatric attention-deficit/hyperactivity disorder: overview and current status of research. CNS drugs, 34, 389-414.

Ercan, E. S., Suren, S., Bacanlı, A., Yazici, K. U., Callı, C., Ozyurt, O., Aygunes, D., Kosova, B., Franco, A. R., & Rohde, L. A. (2016). Decreasing ADHD phenotypic heterogeneity: searching for neurobiological underpinnings of the restrictive inattentive phenotype. European child & adolescent psychiatry, 25(3), 273–282.

Faraone, S. V. & Larsson, H. Genetics of attention deficit hyperactivity disorder. Mol. Psychiatry 24, 562–575 (2018).

Faraone, S. V., Bellgrove, M. A., Brikell, I., Cortese, S., Hartman, C. A., Hollis, C., ... & Buitelaar, J. K. (2024). Attention-deficit/hyperactivity disorder (Primer). Nature Reviews: Disease Primers, 10(1), 11.

Gidziela, A. et al. A meta-analysis of genetic efects associated with neurodevelopmental disorders and co-occurring conditions. Nat. Hum. Behav. 7, 642–656 (2023).

Hayman V, Fernandez TV. Genetic insights into ADHD biology. Front Psychiatry 2018; 9:251.

Her L, Zhu H-J (2020) Carboxylesterase 1 and precision pharmacotherapy:pharmacogenetics and nongenetic regulators. Drug Metab Dispos Biol Fate Chem 48:230–244.

Kast RJ, Lanjewar AL, Smith CD, Levitt P. FOXP2 exhibits projection neuron class specific expression, but is not required for multiple aspects of cortical histogenesis. Elife 2019; 8:e42012.

Kayl AE, Moore BD. Behavioral phenotype of neurofibromatosis, type 1. Ment Retard Dev Disabil Res Rev. 2000;6(2):117–24.

Kranz, T. M., & Grimm, O. (2023). Update on genetics of attention deficit/hyperactivity disorder: current status 2023. Current opinion in psychiatry, 36(3), 257-262.

Lai CSL, Gerrelli D, Monaco AP, et al. FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 2003; 126:2455–2462.

Lo-Castro A, D’Agati E, Curatolo P. ADHD and genetic syndromes. Brain Dev. 2011;33(6):456–61.

Martin J, Hosking G, Wadon M, et al. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Transl Psychiatry 2020; 10:1–6.

Merali Z, Ross S, Pare´ G (2014) The pharmacogenetics of carboxylesterases: CES1 and CES2 genetic variants and their clinical effect. Drug Metabol Drug Interact 29:143–151.

Nehme R, Pietila¨inen O, Artomov M, et al. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia. Nat Comm 2022; 13:1360.

Polderman, T. J. et al. Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nat. Genet. 47, 702–709 (2015).

Robertson MM, Shelley BP, Dalwai S, et al. A patient with both Gilles de la Tourette’s syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette’s syndrome? J Psychosom Res 2006;61:365–368.

Satterstrom, F. K. et al. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat. Neurosci. 22,1961–1965 (2019).

Shao, L., Akkari, Y., Cooley, L. D., Miller, D. T., Seifert, B. A., Wolff, D. J., ... & ACMG Laboratory Quality Assurance Committee documents@ acmg. net. (2021). Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23(10), 1818-1829.

Stevens T, Sangkuhl K, Brown JT et al (2019) PharmGKB summary: methylphenidate pathway, pharmacokinetics/pharmacodynamics. Pharmacogenet Genomics 29:136–154.

Subkhangulova A, Malik AR, Hermey G, et al. SORCS1 and SORCS3 control energy balance and orexigenic peptide production. EMBO Rep 2018; 19:e44810.

Yang T, Bernabeu R, Xie Y, et al. Leukocyte antigen-related protein tyrosine phosphatase receptor: a small ectodomain isoform functions as a homophilic ligand and promotes neurite outgrowth. J Neurosci 2003; 23:3353–3363.