No Evidence for an Association between Dopamine D2 Receptor Polymorphisms and Tardive Dyskinesia in Korean Schizophrenia Patients

Park, Young Min; Na, Kyoung-Sae; Choi, Jung Eun; Kim, Yong Ku; Kim, Seung Hyun; Park, Ji Young; Lee, Heon Jeong

doi:10.4306/pi.2011.8.1.49

Cited by 19 publications

(10 citation statements)

References 43 publications

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“…All subjects were inpatients at collaborating hospitals of Korea University. Other findings from these subjects have been reported previously 20,23-28…”

Section: Methodssupporting

confidence: 85%

No Association between PAWR Gene Polymorphisms and Tardive Dyskinesia in Schizophrenia Patients

Kim

Yoon

et al. 2012

Psychiatry Investig

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Tardive dyskinesia (TD) is a hyperkinetic movement disorder associated with the prolonged use of antipsychotic drugs. Since prostate apoptosis response 4 (Par-4) is a key ligand of the dopamine D2 receptor, the Par-4 gene (PAWR) is a good candidate gene to study in the context of TD susceptibility. We examined the association between PAWR gene polymorphisms and TD. Three single nucleotide polymorphisms of PAWR were selected for the analysis: rs7979987, rs4842318, and rs17005769. Two hundred and eighty unrelated Korean schizophrenic patients participated in this study (105 TD and 175 non-TD patients). Genotype/allele-wise and haplotype-wise analyses were performed. There were no significant differences in genotype and allele frequencies between the two groups. Haplotype analysis also did not reveal a difference between the two groups. Within the limitations imposed by the size of the clinical sample, these findings suggest that PAWR gene variants do not significantly contribute to an increased risk of TD.

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“…All subjects were inpatients at collaborating hospitals of Korea University. Other findings from these subjects have been reported previously 20,23-28…”

Section: Methodssupporting

confidence: 85%

No Association between PAWR Gene Polymorphisms and Tardive Dyskinesia in Schizophrenia Patients

Kim

Yoon

et al. 2012

Psychiatry Investig

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“…The DRD2/ANKK1 marker rs1800497 (TaqIA) has yielded the most consistent findings, with two meta-analyses conducted prior to 2010 supporting an association with TD [136,137]. However, the two studies included in our review that reexamined this association yielded negative results [138,139]. Nevertheless, these studies hold little weight in view of the overall evidence, and the association between the TaqIA variant and TD susceptibility continues to be of clinical interest.…”

Section: Eps and Tdmentioning

confidence: 91%

Genetics of Common Antipsychotic-Induced Adverse Effects

MacNeil

Müller

2016

Complex Psychiatry

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The effectiveness of antipsychotic drugs is limited due to accompanying adverse effects which can pose considerable health risks and lead to patient noncompliance. Pharmacogenetics (PGx) offers a means to identify genetic biomarkers that can predict individual susceptibility to antipsychotic-induced adverse effects (AAEs), thereby improving clinical outcomes. We reviewed the literature on the PGx of common AAEs from 2010 to 2015, placing emphasis on findings that have been independently replicated and which have additionally been listed to be of interest by PGx expert panels. Gene-drug associations meeting these criteria primarily pertain to metabolic dysregulation, extrapyramidal symptoms (EPS), and tardive dyskinesia (TD). Regarding metabolic dysregulation, results have reaffirmed HTR2C as a strong candidate with potential clinical utility, while MC4R and OGFR1 gene loci have emerged as new and promising biomarkers for the prediction of weight gain. As for EPS and TD, additional evidence has accumulated in support of an association with CYP2D6 metabolizer status. Furthermore, HSPG2 and DPP6 have been identified as candidate genes with the potential to predict differential susceptibility to TD. Overall, considerable progress has been made within the field of psychiatric PGx, with inroads toward the development of clinical tools that can mitigate AAEs. Going forward, studies placing a greater emphasis on multilocus effects will need to be conducted.

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“…As for DRD2, rs1801028, rs1800497, rs1799732 (Hori et al [100]; Kaiser et al [101]; Koning et al [102]; Park et al [103]), rs1801028 [101,104], rs1799978, rs1079597, Val96Ala, Leu141Leu, Pro310Ser [101], rs1800498 [102,103], rs6275 [103], and rs6277 [102] did not present any statistically significant association either in allelic or in genotypic level. However, concerning rs1800497 on DRD2, there is an older study which was performed in a group of patients with schizophrenia, indicating that this polymorphism may affect the development of TD differently [105].…”

Section: Pharmacogenomics Of Drug-induced Dystoniamentioning

confidence: 95%

Tardive Dystonia due to D2 Antagonists and Other Agents

Σκώκου¹,

Tsermpini²,

Giamarelou³

et al. 2018

Dystonia - Different Prospects

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Tardive dystonia due to D2 antagonists or other agents is a potentially severe extrapyramidal side effect emerging after long-term drug treatment, prevalent but not limited to psychiatric populations. Its course is often deteriorating, and available treatments are frequently far from satisfying. It presents with sustained muscle contractions, abnormal postures, and repetitive twisting movements and leads to increased psychiatric morbidity, mortality, and decline of quality of life. Inadequate clinical skill and awareness of tardive dystonia can lead to neglect or misdiagnoses, considered as conversion symptoms or of psychogenic origin. Since the syndrome is persistent and often treatment resistant, prevention should be a mainstay of clinical care. Emerging evidence supports positive effects of atypical antipsychotics, particularly quetiapine and clozapine. Therapies such as tetrabenazine, valbenazine, deutetrabenazine, anticholinergics, baclofen, benzodiazepines, vitamin E, or non-pharmacologic interventions, namely botulinum toxin A, deep-brain stimulation, have been found to be helpful in some cases of tardive dystonia. This chapter comprehensively illustrates multiple aspects of this entity, including recent advances on etiology, pathophysiology, clinical presentation, epidemiology, pharmacogenomics, and treatment, aiming to enhance and deepen clinicians' and researchers' awareness of tardive dystonia, with the final goal of ameliorating patients' prognosis and quality of life.

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No Evidence for an Association between Dopamine D2 Receptor Polymorphisms and Tardive Dyskinesia in Korean Schizophrenia Patients

Cited by 19 publications

References 43 publications

No Association between PAWR Gene Polymorphisms and Tardive Dyskinesia in Schizophrenia Patients

No Association between PAWR Gene Polymorphisms and Tardive Dyskinesia in Schizophrenia Patients

Genetics of Common Antipsychotic-Induced Adverse Effects

Tardive Dystonia due to D2 Antagonists and Other Agents

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