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Serotonin transporter gene polymorphisms and treatment-resistant depression
Authors:Cristian Bonvicini  Alessandra Minelli  Catia Scassellati  Marco Bortolomasi  Matilde Segala  Riccardo Sartori  Mario Giacopuzzi  Massimo Gennarelli
Affiliation:1. Genetic Unit, I.R.C.C.S. “San Giovanni di Dio”, Fatebenefratelli, Brescia, Italy;2. Psychiatric Hospital “Villa Santa Chiara”, Verona, Italy;3. Department of Psychology and Cultural Anthropology, University of Verona, Verona, Italy;4. Department of Biomedical Sciences and Biotechnologies, Biology and Genetic Division, Brescia University School of Medicine, Brescia, Italy
Abstract:Major Depression Disorder (MDD) is a serious mental illness that is one of the most disabling diseases worldwide. In addition, approximately 15% of depression patients are defined treatment-resistant (TRD). Preclinical and genetic studies show that serotonin modulation dysfunction exists in patients with TRD. Some polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4) are likely to be involved in the pathogenesis/treatment of MDD; however, no data are available concerning TRD.
Keywords:5-HTTLPR, serotonin-transporter-linked promoter region, (43bp Ins=L allele/Del=S allele)   ANOVA, analysis of variance   ATD, acute tryptophan depletion   DSM-IV, Diagnostic and Statistical Manual of Mental Disorders   ECT, Electroconvulsive therapy   HWE, Hardy-Weinberg Equilibrium   M.I.N.I., Mini International Neuropsychiatric Interview   M.M.S.E., Mini Mental State Examination   MAF, minor Allele Frequency   MDD, major depressive disorder   PCR, polymerase chain reaction   rMDD, remitted major depressive disorder   rTMS, repetitive transcranial magnetic stimulation   SLC6A4, serotonin transporter gene   SNP, single nucleotide polymorphism   SSRI, Selective Serotonin Reuptake Inhibitor   STin2, 17-bp variable tandem repeat intron 2   TCA, trcyclic antidepressant   TD, tryptophan depletion   TRD, treatment-resistant depression
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