Association between Ser9Gly Polymorphism of DRD3 Gene and Depression in Parkinson's Disease / 中国康复理论与实践

Objectives:To explore the relationship between the dopamine D3 receptor (DRD3) polymorphism on Ser9Gly and depression in Parkinson's disease (PD). Methods:From June, 2016 to June, 2018, 312 Chinese patients with PD were divided into depression group (n = 132) and non-depression group (n = 180) according to scores of Hamilton Depression Scale. A total of 252 age- and gender-matched healthy subjects were recruited as control group. Their blood samples were collected. Genotyping of Ser9Gly polymorphism was carried out using polymerase chain reaction-restriction fragment length polymorphism. Results:No statistical difference was identified in Ser9Gly polymorphism among three groups in both gene types and allel (χ2 = 3.095, χ2 = 2.627, P > 0.05). Conclusion:Ser9Gly polymorphism in DRD3 gene may not be a susceptible factor for depression in PD in China.

Association between Ser9Gly Polymorphism of DRD3 Gene and Depression in Parkinson's Disease / 中国康复理论与实践

Objectives:To explore the relationship between the dopamine D3 receptor (DRD3) polymorphism on Ser9Gly and depression in Parkinson's disease (PD). Methods:From June, 2016 to June, 2018, 312 Chinese patients with PD were divided into depression group (n = 132) and non-depression group (n = 180) according to scores of Hamilton Depression Scale. A total of 252 age- and gender-matched healthy subjects were recruited as control group. Their blood samples were collected. Genotyping of Ser9Gly polymorphism was carried out using polymerase chain reaction-restriction fragment length polymorphism. Results:No statistical difference was identified in Ser9Gly polymorphism among three groups in both gene types and allel (χ2 = 3.095, χ2 = 2.627, P > 0.05). Conclusion:Ser9Gly polymorphism in DRD3 gene may not be a susceptible factor for depression in PD in China.

Effect of DRD1, DRD3 gene knockout and double gene knockout on body weight in mice / 中国比较医学杂志

Objective To study the effect of dopamine receptors on neurological and physiological activities. Methods Dopamine D1 receptor gene (DRD1) knockout mice and dopamine D3 receptor (DRD3) gene knockout mice were introduced, and double gene knockout mice were bred in our lab.Seven SPF male mice in each group were used in this experiment.The food intake, water intake, body weight gain for 24 hours were tested on the age of 30 d, 50 d, and 70 d and were compared with those of wild type mice.Results DRD1 gene and DRD3 gene showed significant effect on the body weight in mice in age of 21 day and 35 day, but at the age of 90 day, the differences became insignificant among the mice of various genetypes.Conclusions Dopamine may effect on the foraging and satiety in newborn mice through regulating the hypothalamic-pituitary-adrenal ( HPA ) axis activity, and finally leads to a reduced body weight gain in newborn mice and puppies during lactation.Furthermore, DRD1 gene and DRD3 gene may influence on body weight of newborn mice through regulating mothers’ lactation, lead to a lower body weight at ablactation, and compensatory increase of body weight after ablactation.Our results provide a substantial foundation for studying the function and interaction of DRD1 and DRD3 genes.

Association Study between Treatment Response of Amisulpride and Dopamine D3 Receptor Gene Polymorphisms

OBJECTIVES: The aim of this study is to evaluate the association between rs6280 and rs905568 genetic polymorphism of DRD3 gene and the treatment response of amisulpride. METHODS: After six weeks treatment of amisulpride, 125 schizophrenia patients were interviewed based on the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression-Severity (CGI-S). The genotyping for rs6280 and rs905568 was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. RESULTS: There was no significant difference in the frequency of genotype and allele of rs6280 between the responders and non-responders based on the total, positive, and general score of PANSS and CGI-S score. However, there was a significant association between this SNP and treatment response in the negative score of PANSS (chi2 = 5.23, p = 0.022). There was no significant association between rs905568 and the response in positive, negative, general, and total PANSS score and CGI-S score. CONCLUSIONS: This is the first positive association study between DRD3 gene and the treatment response of negative symptoms to amisulpride in Korean schizophrenia patients. A larger scale research on more SNP of the DRD3 gene will make a progress in the study of pharmacogenetics on the treatment response of the amisulpride.

Molecular genetic case-control women investigation from the first Brazilian high-risk study on functional psychosis / Investigação genético-molecular do tipo caso-controle em uma amostra de mulheres portadoras de psicose funcional do primeiro estudo de alto-risco brasileiro

OBJECTIVE: Data from epidemiological studies have demonstrated that genetics is an important risk factor for psychosis. The present study is part of a larger project, pioneer in Brazil, which has been conducted by other researchers who intend to follow a high-risk population (children) for the development of schizophrenia and bipolar disorder. In this first phase of the project, the objective was to investigate the distribution of four candidate genetic polymorphisms for functional psychosis (Ser9Gly DRD3, 5HTTLPR, the VNTR 3'-UTR SLC6A3 and Val66Met BDNF) in a case-control sample. METHOD: A total of 105 women (58 with schizophrenia and 47 with bipolar disorder) and 62 gender-matched controls were investigated. RESULTS: Allele and genotype distributions of all identified functional polymorphisms did not differ statistically between cases and controls. CONCLUSIONS: These results suggest that the investigated polymorphisms were not related to susceptibility to functional psychoses in our Brazilian sample. These findings need to be validated in larger and independent studies.

OBJETIVO: Estudos epidemiológicos demonstram que alterações genéticas são fatores de risco importantes para o desenvolvimento de psicose. O presente estudo é parte um projeto maior, pioneiro no Brasil, realizado com mais pesquisadores, que pretende seguir uma população de alto risco genético para o desenvolvimento de esquizofrenia e transtorno bipolar. Nesta primeira fase, o objetivo foi investigar a distribuição de quatro polimorfismos genéticos candidatos no desenvolvimento de psicose funcional (Ser9Gly DRD3, 5HTTLPR, o VNTR 3'-UTR SLC6A3 e Val66Met BDNF) em uma amostra caso-controle. MÉTODO: O estudo genético respeitou o desenho metodológico do estudo clínico. Um total de 105 mulheres (58 esquizofrenia e 47 transtorno bipolar) e 62 controles sem diagnóstico psiquiátrico foi investigado. RESULTADOS: Nenhuma diferença estatisticamente significante foi observada nas distribuições alélicas e genotípicas entre os grupos investigados. CONCLUSÕES: Os resultados sugerem que estes polimorfismos não estavam relacionados à suscetibilidade para psicose funcional nesta amostra brasileira estudada. Esses achados precisam ser validados em estudos maiores e independentes.

Association between Schizophrenia and the Genetic Polymorphism of DRD3, DRD4 and HTR2A / 대한진단검사의학회지

BACKGROUND: Dopamine and serotonin receptors are candidate genes for the genetic study of schizophrenia because of their implication in the pathophysiology and etiology of schizophrenia (serotonine- dopamin hypothesis). A population-based association study was performed between schizophrenics and normal controls to identify the susceptibility genes. METHODS: A total of 145 schizophrenics and 242 normal controls were recruited. Ser9Gly polymorphism of DRD3, 12 bp repeat of DRD4, and 102T/C of HTR2A were selected as candidate polymorphism. The molecular techniques such as polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-polyacrylamide gel electrophoresis were used. Chi-square analysis was performed to find any differences between two groups and logistic linear regression was tested to evaluate the interaction between three genes. RESULTS: There were no significant differences in allele frequencies and genotype frequencies of the three genetic polymorphism. Stratified by sex, the difference of DRD4 allele (P=0.065) and HTR2A allele (P=0.083) and genotype (P=0.054) was observed between male patients and controls; also noted was the difference of HTR2A genotype (P=0.080) between female patients and controls. Stratified by age of onset, the difference in the linear trend of DRD3 between early-onset patients and normal control (P=0.003) was observed. Stratified by family history, the difference in the linear trend of DRD4 (P=0.008) was also observed. Logistic linear regression with 90 patients who had early-onset phenotype (< or =20 year-old) or family history showed a significant result in interaction term (P=0.053). CONCLUSIONS: The finding that there were significant results only after stratification may imply a different genetic load on each subgroup of the disease. The interaction of genes between DRD3, DRD4, and HTR2A in a subgroup with supposedly high genetic background may support the serotonindopamine hypothesis. This, however, should be verified hereafter in large-scale studies.