The association of the DRD3 gene with Parkinson’s disease

Ivanova, Svetlana A.; Алифирова, В. М.; Жукова, И. А.; Boiko, Anastasiia S.; Fedorenko, Olga Yu; Жукова, Н. Г.; Бохан, Н. А.

doi:10.17116/jnevro20161165171-74

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…SNPs rs9817063, rs9817063, rs2134655, rs963468, rs3773679, rs167770, and rs324029 were reported in studies involving Parkinson’s disease, depression, obsessive compulsive disorder, tardive dyskinesia, attention deficit hyperactivity disorder, and schizophrenia. 28–35 No previously reported studies were found for rs324023.…”

Section: Discussionmentioning

confidence: 99%

HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease

Powell-Roach

Yao

Wallace

et al. 2022

Exp Biol Med (Maywood)

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A previous exploratory analysis of a COMT gene single-nucleotide polymorphism (SNP) and a DRD3 SNP by our group suggested possible contributions to pain-related acute care utilization in people with sickle cell disease (SCD). Our aim was to extend the analysis to gene-spanning haplotypes of COMT SNPs and DRD3 SNPs to investigate possible associations with pain intensity and pain-related acute care utilization in an SCD cohort. Genotyping was conducted, and clinical data were collected, including self-reported pain intensity using PAINReportIt® (average of current pain and least and worst in past 24 hours, average pain intensity [API]) and medical record-extracted, pain-related acute care utilization data of 130 adults with SCD. Haplotype blocks were identified based on linkage disequilibria (COMT = 7 haploblocks; DRD3 = 8 haploblocks). Regression analyses were tested for association between haplotypes and API and utilization, yielding several significant findings. For COMT block 1 (rs2075507, rs4646310, rs737865), the A-G-G haplotype was associated with higher API compared to the reference A-G-A ( p = 0.02), whereas the A-A-A haplotype was associated with higher utilization ( p = 0.02). For DRD3 block 2 (rs9817063, rs2134655, rs963468, and rs3773679), relative to reference T-C-G-C, the T-T-G-C haplotype was associated with higher utilization ( p = 0.01). For DRD3 block 4 (rs167770, rs324029, and rs324023), the A-G-T haplotype was associated with higher API ( p = 0.04) and utilization ( p < 0.001) relative to reference G-A-T, whereas the A-A-T haplotype was associated with higher utilization ( p = 0.01). We found COMT and DRD3 haplotypes associated with pain-related SCD features, suggesting that in future studies more emphasis be placed on cis effects of SNP alleles in evaluating genetic contributions to SCD pain and acute care utilization for pain.

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Section: Discussionmentioning

confidence: 99%

HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease

Powell-Roach

Yao

Wallace

et al. 2022

Exp Biol Med (Maywood)

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Antipsychotic-Induced Parkinsonism: A Risk Assessment Scale and Personalised Diagnosis Algorithm

Shnayder,

Vaiman,

Nasyrova

2024

Bezopasnost' i risk farmakoterapii

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INTRODUCTION. Antipsychotic-induced parkinsonism (AIP) is an extrapyramidal adverse drug reaction (ADR) associated with antipsychotics (APs). Despite its classification as a non-serious ADR, AIP significantly decreases the quality of life in patients with schizophrenia spectrum disorders, which makes early diagnosis and timely management of AIP an urgent issue.AIM. This study aimed to develop a risk assessment scale and a personalised diagnostic algorithm for AIP as the most common and clinically significant neurological ADR in patients with schizophrenia spectrum disorders.MATERIALS AND METHODS. The authors analysed modifiable and non-modifiable risk factors for AIP, as well as rating scales, questionnaires, and laboratory testing methods to diagnose the condition. The analysis was based on full-text publications in Russian or in English sourced from the eLIBRARY.RU, PubMed, Springer, ClinicalKey, and Google Scholar databases. As a preliminary step, the authors compared the effectiveness of validated AIP risk assessment scales, including the Simpson–Angus Scale (SAS), the Extrapyramidal Symptom Rating Scale (ESRS), the Unified Parkinson’s Disease Rating Scale (UPDRS), the Hoehn and Yahr scale (H&Y Scale), the Webster Rating Scale, and the Mindham Rating Scale. Comparisons were made regarding the duration of testing, the degree of reliability in assessing clinical manifestations of AIP, and the ability to assess risk factors (predictors) of AIP and the rate of AIP development. The results obtained formed the basis for developing an AIP riskometer and a diagnostic algorithm.RESULTS. The authors developed an original risk assessment scale for diagnosing and predicting AIP. Directions for personalised patient management were determined for patients at high and medium risk of AIP. This article presents an algorithm for diagnosing AIP in patients with schizophrenia spectrum disorders in two variants based on pro-reactive (predictive) or reactive pharmacogenetic testing. According to the study results, pro-reactive pharmacogenetic testing can help determine the risk of AIP in a patient before primary therapy.CONCLUSIONS. The risk assessment scale and the personalised diagnostic algorithm developed by the authors may be useful for practising neurologists, psychiatrists, and clinical pharmacologists. The development and clinical implementation of novel tools for risk assessment, prevention, and diagnosis of AIP—the most common AP-associated neurological ADR—can improve the quality of treatment and preventive care for patients with schizophrenia spectrum disorders.

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Genes of dopamine receptors and transporter in patients with schizophrenia: associations with the clinical characteristics of the disorder

Boiko

Pozhidaev

Paderina

et al. 2019

V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY

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The association of the DRD3 gene with Parkinson’s disease

Abstract: Associations between 4 polymorphisms (rs11721264, rs3773678, rs167771, rs324035) and PD have been found. Our study confirms the involvement of polymorphic features of dopamine receptors genes in the pathophysiology in PD.

Cited by 3 publications

References 13 publications

HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease

HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease

Antipsychotic-Induced Parkinsonism: A Risk Assessment Scale and Personalised Diagnosis Algorithm

Genes of dopamine receptors and transporter in patients with schizophrenia: associations with the clinical characteristics of the disorder

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