Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran
Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffol...
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| Format: | Article |
| Language: | English |
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Iran University of Medical Sciences
2021-01-01
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| Series: | Basic and Clinical Neuroscience |
| Subjects: | |
| Online Access: | http://bcn.iums.ac.ir/article-1-1106-en.html |
| _version_ | 1797284971549818880 |
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| author | Nahid Mizban Nasim Vousooghi Nasrin Mizban |
| author_facet | Nahid Mizban Nasim Vousooghi Nasrin Mizban |
| author_sort | Nahid Mizban |
| collection | DOAJ |
| description | Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SHANK3 gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein. The present study aimed to evaluate whether rs9616915 polymorphism of SHANK3 is involved in the susceptibility to PD.
Methods: The study subjects were 100 patients diagnosed with PD and 100 control volunteers. The obtained samples were evaluated by the polymerase chain reaction-restriction fragment length polymorphism method.
Results: A significant association was found in genotype distribution between cases and controls. Individuals with TC genotype had increased risk of PD (P=0.035, OR=1.98, 95% CI=1.04 - 3.74). No significant difference was found in allele distribution (P=0.7).
Conclusion: The findings suggest that the SHANK3 rs9616915 polymorphism is associated with an increased risk of PD in the population. Further studies are needed to confirm the role of the SHANK3 gene in PD. |
| first_indexed | 2024-03-07T17:55:30Z |
| format | Article |
| id | doaj.art-15b5c3db10c14318b0d7bb4012993729 |
| institution | Directory Open Access Journal |
| issn | 2008-126X 2228-7442 |
| language | English |
| last_indexed | 2024-03-07T17:55:30Z |
| publishDate | 2021-01-01 |
| publisher | Iran University of Medical Sciences |
| record_format | Article |
| series | Basic and Clinical Neuroscience |
| spelling | doaj.art-15b5c3db10c14318b0d7bb40129937292024-03-02T12:15:57ZengIran University of Medical SciencesBasic and Clinical Neuroscience2008-126X2228-74422021-01-011215762Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of IranNahid Mizban0Nasim Vousooghi1Nasrin Mizban2 Department of Biology, Faculty of Sciences, University of Guilan, Guilan, Iran. Department of Applied Cell Sciences, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran. Department of Biological Sciences, Faculty of Biological Sciences and Technologies, Shahid Beheshti University, Tehran, Iran. Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SHANK3 gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein. The present study aimed to evaluate whether rs9616915 polymorphism of SHANK3 is involved in the susceptibility to PD. Methods: The study subjects were 100 patients diagnosed with PD and 100 control volunteers. The obtained samples were evaluated by the polymerase chain reaction-restriction fragment length polymorphism method. Results: A significant association was found in genotype distribution between cases and controls. Individuals with TC genotype had increased risk of PD (P=0.035, OR=1.98, 95% CI=1.04 - 3.74). No significant difference was found in allele distribution (P=0.7). Conclusion: The findings suggest that the SHANK3 rs9616915 polymorphism is associated with an increased risk of PD in the population. Further studies are needed to confirm the role of the SHANK3 gene in PD.http://bcn.iums.ac.ir/article-1-1106-en.htmlshank3parkinson diseasegene polymorphismrs9616915 |
| spellingShingle | Nahid Mizban Nasim Vousooghi Nasrin Mizban Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran Basic and Clinical Neuroscience shank3 parkinson disease gene polymorphism rs9616915 |
| title | Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran |
| title_full | Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran |
| title_fullStr | Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran |
| title_full_unstemmed | Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran |
| title_short | Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran |
| title_sort | association of shank3 gene polymorphism and parkinson disease in the north of iran |
| topic | shank3 parkinson disease gene polymorphism rs9616915 |
| url | http://bcn.iums.ac.ir/article-1-1106-en.html |
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