Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population

Wojciech Merk,1 Krzysztof Kucia,1 Tomasz Mędrala,1 Małgorzata Kowalczyk,2 Aleksander Owczarek,3,4 Jan Kowalski21Department of Psychiatry and Psychotherapy, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; 2Department of Medical Genetics, School of Pharmacy with the Di...

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Autores principales:	Merk W, Kucia K, Mędrala T, Kowalczyk M, Owczarek A, Kowalski J
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2019
Materias:	schizophrenia glutamate system Excitatory Amino Acid Transporter 2 Glycine Transporter 1 polymorphism PANSS Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/9b584df2346f4ceaa02f0432abf06898
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spelling	oai:doaj.org-article:9b584df2346f4ceaa02f0432abf068982021-12-02T06:49:13ZAssociation study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population1178-2021https://doaj.org/article/9b584df2346f4ceaa02f0432abf068982019-04-01T00:00:00Zhttps://www.dovepress.com/association-study-of-the-excitatory-amino-acid-transporter-2-eaat2-and-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Wojciech Merk,1 Krzysztof Kucia,1 Tomasz Mędrala,1 Małgorzata Kowalczyk,2 Aleksander Owczarek,3,4 Jan Kowalski21Department of Psychiatry and Psychotherapy, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; 2Department of Medical Genetics, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Poland; 3Division of Statistics, Department of Instrumental Analysis, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Poland; 4Department of Instrumental Analysis, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, PolandBackground: Excitatory amino acid transporter 2 encoded by SLC1A2 is responsible for approximately 90% of glutamate uptake. Glycine transporter 1, encoded by SLC6A9, is responsible for maintaining a low concentration of the N-methyl-D-aspartate receptor (NMDAR) co-agonist – glycine in the synaptic cleft, suggesting its participation in the development of the NMDARs hypofunction described in schizophrenia. Aim: The aim of this study was to evaluate whether the functional polymorphism-181 A/C (rs4354668) of the SLC1A2 and the rs2486001 (IVS3+411 G/A) in the SLC6A9 are involved in schizophrenia development and its clinical picture in the Polish population. Methods: The study group consisted of 393 unrelated Caucasian patients (157 [39.9%] females and 236 [60.1%] males; mean age 41±12) diagnosed with schizophrenia according to the DSM-5, and 462 healthy controls. The results of the Positive and Negative Syndrome Scale (PANSS) were presented in the five-dimensional model. Polymorphisms of SLC1A2 and SLC6A9 were genotyped with the use of PCR-RFLP assay.Results: There were no statistically significant differences in the frequency of genotypes and alleles between the patients and controls for SLC1A2 and SLC6A9 polymorphisms in either the entire sample or after stratification according to gender. In the haplotype analysis, men with CA haplotype had more than 1.5 higher risk to develop schizophrenia than women (OR=1.63 [95% CI=1.17–2.27, p<0.05]). The influence of gender, genotypes of both analyzed polymorphisms and gender x genotype interactions on individual dimensions of the PANSS scale has not been observed. Also, there was no association of either polymorphism with suicide attempts.Conclusion: The results of the present study did not indicate an association of polymorphism-181 A/C (rs4354668) in SLC1A2 and rs2486001 in SLC6A9 with onset of schizophrenia and its psychopathology in a Polish population.Keywords: schizophrenia, glutamate system, excitatory amino acid transporter 2, glycine transporter 1, polymorphism, PANSSMerk WKucia KMędrala TKowalczyk MOwczarek AKowalski JDove Medical Pressarticleschizophreniaglutamate systemExcitatory Amino Acid Transporter 2Glycine Transporter 1polymorphismPANSSNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 15, Pp 989-1000 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	schizophrenia glutamate system Excitatory Amino Acid Transporter 2 Glycine Transporter 1 polymorphism PANSS Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	schizophrenia glutamate system Excitatory Amino Acid Transporter 2 Glycine Transporter 1 polymorphism PANSS Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Merk W Kucia K Mędrala T Kowalczyk M Owczarek A Kowalski J Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
description	Wojciech Merk,1 Krzysztof Kucia,1 Tomasz Mędrala,1 Małgorzata Kowalczyk,2 Aleksander Owczarek,3,4 Jan Kowalski21Department of Psychiatry and Psychotherapy, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; 2Department of Medical Genetics, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Poland; 3Division of Statistics, Department of Instrumental Analysis, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Poland; 4Department of Instrumental Analysis, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, PolandBackground: Excitatory amino acid transporter 2 encoded by SLC1A2 is responsible for approximately 90% of glutamate uptake. Glycine transporter 1, encoded by SLC6A9, is responsible for maintaining a low concentration of the N-methyl-D-aspartate receptor (NMDAR) co-agonist – glycine in the synaptic cleft, suggesting its participation in the development of the NMDARs hypofunction described in schizophrenia. Aim: The aim of this study was to evaluate whether the functional polymorphism-181 A/C (rs4354668) of the SLC1A2 and the rs2486001 (IVS3+411 G/A) in the SLC6A9 are involved in schizophrenia development and its clinical picture in the Polish population. Methods: The study group consisted of 393 unrelated Caucasian patients (157 [39.9%] females and 236 [60.1%] males; mean age 41±12) diagnosed with schizophrenia according to the DSM-5, and 462 healthy controls. The results of the Positive and Negative Syndrome Scale (PANSS) were presented in the five-dimensional model. Polymorphisms of SLC1A2 and SLC6A9 were genotyped with the use of PCR-RFLP assay.Results: There were no statistically significant differences in the frequency of genotypes and alleles between the patients and controls for SLC1A2 and SLC6A9 polymorphisms in either the entire sample or after stratification according to gender. In the haplotype analysis, men with CA haplotype had more than 1.5 higher risk to develop schizophrenia than women (OR=1.63 [95% CI=1.17–2.27, p<0.05]). The influence of gender, genotypes of both analyzed polymorphisms and gender x genotype interactions on individual dimensions of the PANSS scale has not been observed. Also, there was no association of either polymorphism with suicide attempts.Conclusion: The results of the present study did not indicate an association of polymorphism-181 A/C (rs4354668) in SLC1A2 and rs2486001 in SLC6A9 with onset of schizophrenia and its psychopathology in a Polish population.Keywords: schizophrenia, glutamate system, excitatory amino acid transporter 2, glycine transporter 1, polymorphism, PANSS
format	article
author	Merk W Kucia K Mędrala T Kowalczyk M Owczarek A Kowalski J
author_facet	Merk W Kucia K Mędrala T Kowalczyk M Owczarek A Kowalski J
author_sort	Merk W
title	Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
title_short	Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
title_full	Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
title_fullStr	Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
title_full_unstemmed	Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population
title_sort	association study of the excitatory amino acid transporter 2 (eaat2) and glycine transporter 1 (glyt1) gene polymorphism with schizophrenia in a polish population
publisher	Dove Medical Press
publishDate	2019
url	https://doaj.org/article/9b584df2346f4ceaa02f0432abf06898
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Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population

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