Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia
| Autor: | Gennadiy Tenin, Anton J. M. Loonen, Nikolay A. Bokhan, Elena G Kornetova, Diana Z Paderina, Bob Wilffert, Anastasiia S Boiko, Svetlana A. Ivanova, Olga Yu Fedorenko, Arkadiy V. Semke, Ivan V Pozhidaev |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Disease Tardive dyskinesia medicine.disease Minor allele frequency 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Internal medicine mental disorders Genotype Genetics medicine Gene polymorphism Allele business Gene 030217 neurology & neurosurgery Genetics (clinical) Pharmacogenetics |
| Zdroj: | The Application of Clinical Genetics. 13:97-105 |
| ISSN: | 1178-704X |
| DOI: | 10.2147/tacg.s247174 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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