Association Study of the Estrogen Receptor Polymorphisms with Tardive Dyskinesia in Schizophrenia

Abstract

Tardive dyskinesia (TD) is an involuntary movement disorder induced by long-term antipsychotic treatments. Estrogen is suggested to modulate dopamine receptors in the central nervous system and may decrease the incidence and/or relieve the symptoms of TD. In this study, 118 schizophrenia patients with antipsychotic-induced TD and 128 sex- and age-matched non-TD schizophrenia patients were recruited. All patients were assessed by the Abnormal Involuntary Movement Scale and genotyped for the polymorphisms of estrogen receptor-α gene (ESR 1). There was a marginal association of the genotypes determined by Pvu II between TD and non-TD patients (p = 0.057), but not of the genotypes determined by Xba I (p = 0.896). However, further studies on other polymorphisms of ESR 1 or other estrogen receptors are necessary to clarify the role of estrogen in the pathogenesis of TD.

Gray Matter Abnormalities in Schizophrenia Patients with Tardive Dyskinesia: A Magnetic Resonance Imaging Voxel-Based Morphometry Study

“…Therefore, the patients with parkinsonism or dystonia could be easily identified as TD subjects in their study, and may lead to the positive findings in basal ganglia [59]. Our rating scale for TD is AIMS; which is a widely used rating scale for TD researches [4], [5], [24]–[42], and the instruction of this scale emphasizes to exclude the parkinsonism or dystonia symptoms. Although the long-held believe of the involvement of basal ganglia in TD cannot be found in the our study, the research evidence showed cortical information is processed in the basal ganglia nuclei, which in turn send projections back via the thalamus to the cortex (corticobasal ganglion loop) [61].…”

“…The clinical rating scales included the Positive and Negative Symptom Scale (PANSS) for severity of psychopathology, the Abnormal Involuntary Movement Scale (AIMS) for TD, and the Simpson-Angus Scale (SAS) for extrapyramidal side effects. The clinical ratings were performed by Dr. Bai, who has years of experience using AIMS ratings for TD [4], [5], [24]–[42]. All participants were accompanied with family relatives or care takers to assure they understood and provided the written informed consent before participating in the study.…”

Pharmacogenetic Studies of Psychotropic Drug-Induced Adverse Effects

“…Other negative findings of genetic association in TD include genetic polymorphisms of apolipoprotein E [Kimura et al, 2000], and the estrogen receptor-alpha [Lai et al, 2002], serotonin transporter [Chong et al, 2000], serotonin 6 receptor gene (HTR6) [Ohmori et al, 2002], angiotensin converting enzyme [Segman et al, 2002b], delta opioid receptor [Ohmori et al, 2001], neural nitric oxide synthase Shinkai et al, 2004], monoamine oxidase A [Matsumoto et al, 2004b], monoamine oxidase B [Matsumoto et al, 2004b], and catechol-o-methyltransferase genes [Matsumoto et al, 2004b;Lai et al, 2004].…”

Clinical implications of pharmacogenomics for tardive dyskinesia

“…No specific effect was found in females alone. 79 The angiotensin-converting enzyme has been found to modulate dopamine turnover in the striatum. 80 Segman et al 81 examined the role of a functional Ins/Del variant, however, yielding no significant results.…”