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Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China

OBJECTIVE: Tic disorders (TDs) are highly polygenic and heritable neurodevelopmental disorders characterized by the presence of movements (motor tics) and/or vocalizations (phonic tics). SLITRK1 is a pathogenic variation of TD, and in a recent genome-wide association study in those of European ances...

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Autores principales: Gao, Ming, Lin, Haisheng, Li, Bingxiao, Wen, Junjie, Wang, Yingying, Zhang, Zhanhui, Chen, Wenxiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818983/
https://www.ncbi.nlm.nih.gov/pubmed/35140465
http://dx.doi.org/10.2147/NDT.S340197
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author Gao, Ming
Lin, Haisheng
Li, Bingxiao
Wen, Junjie
Wang, Yingying
Zhang, Zhanhui
Chen, Wenxiong
author_facet Gao, Ming
Lin, Haisheng
Li, Bingxiao
Wen, Junjie
Wang, Yingying
Zhang, Zhanhui
Chen, Wenxiong
author_sort Gao, Ming
collection PubMed
description OBJECTIVE: Tic disorders (TDs) are highly polygenic and heritable neurodevelopmental disorders characterized by the presence of movements (motor tics) and/or vocalizations (phonic tics). SLITRK1 is a pathogenic variation of TD, and in a recent genome-wide association study in those of European ancestry, a single-nucleotide polymorphism (rs2504235) in the FLT3 gene was significantly associated with TDs/Tourette’s syndrome. However, these results need to be proved in different populations. This study aimed to determine whether these two genetic variants were also associated with TD patients in south China. METHODS: A total of 116 child TD patients and 114 healthy controls were included. All children underwent peripheral blood sampling for genomic DNA extraction. Gene fragments with two single-nucleotide polymorphisms were amplified by PCR and sequenced by Sanger chain termination before genotype analysis. RESULTS: SLITRK1 var321 was not observed in any of the TD patients or controls. No significant difference was observed in allelic frequencies or genotypic distributions of rs2504235 between TD patients and controls. CONCLUSION: Our results provide no evidence to support the previous conclusion that SLITRK1 var321 plays a major role in TDs, and FLT3 rs2504235 was not significantly associated with TDs in our cohort.
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spelling pubmed-88189832022-02-08 Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China Gao, Ming Lin, Haisheng Li, Bingxiao Wen, Junjie Wang, Yingying Zhang, Zhanhui Chen, Wenxiong Neuropsychiatr Dis Treat Original Research OBJECTIVE: Tic disorders (TDs) are highly polygenic and heritable neurodevelopmental disorders characterized by the presence of movements (motor tics) and/or vocalizations (phonic tics). SLITRK1 is a pathogenic variation of TD, and in a recent genome-wide association study in those of European ancestry, a single-nucleotide polymorphism (rs2504235) in the FLT3 gene was significantly associated with TDs/Tourette’s syndrome. However, these results need to be proved in different populations. This study aimed to determine whether these two genetic variants were also associated with TD patients in south China. METHODS: A total of 116 child TD patients and 114 healthy controls were included. All children underwent peripheral blood sampling for genomic DNA extraction. Gene fragments with two single-nucleotide polymorphisms were amplified by PCR and sequenced by Sanger chain termination before genotype analysis. RESULTS: SLITRK1 var321 was not observed in any of the TD patients or controls. No significant difference was observed in allelic frequencies or genotypic distributions of rs2504235 between TD patients and controls. CONCLUSION: Our results provide no evidence to support the previous conclusion that SLITRK1 var321 plays a major role in TDs, and FLT3 rs2504235 was not significantly associated with TDs in our cohort. Dove 2022-02-02 /pmc/articles/PMC8818983/ /pubmed/35140465 http://dx.doi.org/10.2147/NDT.S340197 Text en © 2022 Gao et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Original Research
Gao, Ming
Lin, Haisheng
Li, Bingxiao
Wen, Junjie
Wang, Yingying
Zhang, Zhanhui
Chen, Wenxiong
Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title_full Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title_fullStr Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title_full_unstemmed Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title_short Lack of Association of FLT3 rs2504235 and Absence of SLITRK1 var321 in Patients with Tic Disorders from Guangdong Province, China
title_sort lack of association of flt3 rs2504235 and absence of slitrk1 var321 in patients with tic disorders from guangdong province, china
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818983/
https://www.ncbi.nlm.nih.gov/pubmed/35140465
http://dx.doi.org/10.2147/NDT.S340197
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