The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia
Background: Personal variations in genetic risk for schizophrenia relate to its phenotypic heterogeneity—both in disorder development and clinical manifestations. Abnormal glutamatergic neurotransmitter system functioning is integrated in the pathogenesis of schizophrenia. Methods: A sample of 805 R...
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MDPI AG
2023-02-01
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| Online Access: | https://www.mdpi.com/2073-4425/14/3/575 |
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| author | Evgeniya G. Poltavskaya Elena G. Kornetova Maxim B. Freidin Ivan V. Pozhidaev Diana Z. Paderina Anna V. Bocharova Arkadiy V. Semke Nikolay A. Bokhan Svetlana A. Ivanova Olga Y. Fedorenko |
| author_facet | Evgeniya G. Poltavskaya Elena G. Kornetova Maxim B. Freidin Ivan V. Pozhidaev Diana Z. Paderina Anna V. Bocharova Arkadiy V. Semke Nikolay A. Bokhan Svetlana A. Ivanova Olga Y. Fedorenko |
| author_sort | Evgeniya G. Poltavskaya |
| collection | DOAJ |
| description | Background: Personal variations in genetic risk for schizophrenia relate to its phenotypic heterogeneity—both in disorder development and clinical manifestations. Abnormal glutamatergic neurotransmitter system functioning is integrated in the pathogenesis of schizophrenia. Methods: A sample of 805 Russian schizophrenia patients from the Siberian Federal region was investigated. We examined the association of 39 single nucleotide polymorphisms in eight genes (<i>GRIN2A</i>, <i>GRIN2B</i>, <i>SLC1A2</i>, <i>SLC1A3</i>, <i>SLC17A7</i>, <i>GRM3</i>, <i>GRM7</i>, and <i>GRM8</i>) involved in the glutamatergic system with the development of clinical heterogeneity of schizophrenia. The MassARRAY Analyzer 4 was used for genotyping. Results: <i>GRIN2A</i> rs11644461, rs8057394 and <i>GRIN2B</i> rs7313149 are associated with the continuous type of schizophrenia. The <i>GRIN2A</i> rs8057394*G allele is a relative risk factor (<i>p</i> = 0.019) for developing the continuous type of schizophrenia. We found a nominally significant association between negative symptoms of schizophrenia and <i>SLC17A7</i> rs62126236. The <i>SLC17A7</i> rs62126236*T allele has a protective effect (<i>p</i> = 0.039) against predominant negative symptoms in schizophrenia. The total Positive and Negative Syndrome Scale (PANSS) scores were significantly associated with <i>GRIN2A</i> rs9788936 after adjusting for multiple testing (<i>p</i> = 0.001). Conclusions: In this study the contribution of the glutamatergic gene polymorphisms to the clinical heterogeneity of schizophrenia has been demonstrated. |
| first_indexed | 2024-03-11T06:30:33Z |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T06:30:33Z |
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| series | Genes |
| spelling | doaj.art-ebab420370284614b623eab27fbf68342023-11-17T11:16:28ZengMDPI AGGenes2073-44252023-02-0114357510.3390/genes14030575The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of SchizophreniaEvgeniya G. Poltavskaya0Elena G. Kornetova1Maxim B. Freidin2Ivan V. Pozhidaev3Diana Z. Paderina4Anna V. Bocharova5Arkadiy V. Semke6Nikolay A. Bokhan7Svetlana A. Ivanova8Olga Y. Fedorenko9Mental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaMental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634014 Tomsk, RussiaBackground: Personal variations in genetic risk for schizophrenia relate to its phenotypic heterogeneity—both in disorder development and clinical manifestations. Abnormal glutamatergic neurotransmitter system functioning is integrated in the pathogenesis of schizophrenia. Methods: A sample of 805 Russian schizophrenia patients from the Siberian Federal region was investigated. We examined the association of 39 single nucleotide polymorphisms in eight genes (<i>GRIN2A</i>, <i>GRIN2B</i>, <i>SLC1A2</i>, <i>SLC1A3</i>, <i>SLC17A7</i>, <i>GRM3</i>, <i>GRM7</i>, and <i>GRM8</i>) involved in the glutamatergic system with the development of clinical heterogeneity of schizophrenia. The MassARRAY Analyzer 4 was used for genotyping. Results: <i>GRIN2A</i> rs11644461, rs8057394 and <i>GRIN2B</i> rs7313149 are associated with the continuous type of schizophrenia. The <i>GRIN2A</i> rs8057394*G allele is a relative risk factor (<i>p</i> = 0.019) for developing the continuous type of schizophrenia. We found a nominally significant association between negative symptoms of schizophrenia and <i>SLC17A7</i> rs62126236. The <i>SLC17A7</i> rs62126236*T allele has a protective effect (<i>p</i> = 0.039) against predominant negative symptoms in schizophrenia. The total Positive and Negative Syndrome Scale (PANSS) scores were significantly associated with <i>GRIN2A</i> rs9788936 after adjusting for multiple testing (<i>p</i> = 0.001). Conclusions: In this study the contribution of the glutamatergic gene polymorphisms to the clinical heterogeneity of schizophrenia has been demonstrated.https://www.mdpi.com/2073-4425/14/3/575schizophreniaclinical heterogeneitypolymorphism<i>GRIN2A</i><i>GRIN2B</i><i>SLC1A2</i> |
| spellingShingle | Evgeniya G. Poltavskaya Elena G. Kornetova Maxim B. Freidin Ivan V. Pozhidaev Diana Z. Paderina Anna V. Bocharova Arkadiy V. Semke Nikolay A. Bokhan Svetlana A. Ivanova Olga Y. Fedorenko The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia Genes schizophrenia clinical heterogeneity polymorphism <i>GRIN2A</i> <i>GRIN2B</i> <i>SLC1A2</i> |
| title | The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia |
| title_full | The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia |
| title_fullStr | The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia |
| title_full_unstemmed | The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia |
| title_short | The Role of Glutamatergic Gene Polymorphisms in the Clinical Phenotypes of Schizophrenia |
| title_sort | role of glutamatergic gene polymorphisms in the clinical phenotypes of schizophrenia |
| topic | schizophrenia clinical heterogeneity polymorphism <i>GRIN2A</i> <i>GRIN2B</i> <i>SLC1A2</i> |
| url | https://www.mdpi.com/2073-4425/14/3/575 |
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