Ontology highlight
ABSTRACT: Background
Previous studies have linked muscarinic M4 receptors (CHRM4) to schizophrenia. Specifically, the rs2067482 polymorphism was found to be highly associated with this disease.Purpose
To test whether rs2067482 and rs72910092 are potential risk factors for schizophrenia and/or pharmacogenetic markers for antipsychotic-induced tardive dyskinesia.Patients and methods
We genotyped DNA of 449 patients with schizophrenia and 134 healthy controls for rs2067482 and rs72910092 polymorphisms of the CHRM4 gene with the use of the MassARRAY® System by Agena Bioscience. Mann-Whitney test was used to compare qualitative traits and χ 2 test was used for categorical traits.Results
The frequency of genotypes and alleles of rs72910092 did not differ between patients with schizophrenia and control subjects. We did not reveal any statistical differences for both rs2067482 and rs72910092 between schizophrenia patients with and without tardive dyskinesia. The frequency of the C allele of the polymorphic variant rs2067482 was significantly higher in healthy persons compared to patients with schizophrenia (OR=0.51, 95% CI [0.33-0.80]; p=0.003). Accordingly, the CC genotype was found significantly more often in healthy persons compared to patients with schizophrenia (OR=0.49, 95% CI [0.31-0.80]; p=0.010).Conclusion
Our study found the presence of the minor allele (T) of rs2067482 variant being associated with schizophrenia. We argue that the association of rs2067482 with schizophrenia may be via its regulatory effect on some other gene with protein kinase C and casein Kknase substrate in neurons 3 (PACSIN3) as a possible candidate. Neither rs2067482 nor rs72910092 is associated with tardive dyskinesia.
SUBMITTER: Pozhidaev IV
PROVIDER: S-EPMC7183770 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Pozhidaev Ivan V IV Boiko Anastasiia S AS Boiko Anastasiia S AS Loonen Anton J M AJM Paderina Diana Z DZ Fedorenko Olga Yu OY Tenin Gennadiy G Kornetova Elena G EG Semke Arkadiy V AV Bokhan Nikolay A NA Wilffert Bob B Ivanova Svetlana A SA
The application of clinical genetics 20200422
<h4>Background</h4>Previous studies have linked muscarinic M4 receptors (CHRM4) to schizophrenia. Specifically, the rs2067482 polymorphism was found to be highly associated with this disease.<h4>Purpose</h4>To test whether rs2067482 and rs72910092 are potential risk factors for schizophrenia and/or pharmacogenetic markers for antipsychotic-induced tardive dyskinesia.<h4>Patients and methods</h4>We genotyped DNA of 449 patients with schizophrenia and 134 healthy controls for rs2067482 and rs72910 ...[more]