dc.contributor.author | Yalın, Osman Özgür | |
dc.contributor.author | Gökdoğan Edgünlü, Tuba | |
dc.contributor.author | Karakaş Çelik, Sevim | |
dc.contributor.author | Emre, Ufuk | |
dc.contributor.author | Güneş, Taşkın | |
dc.contributor.author | Erdal, Yüksel | |
dc.contributor.author | Eroğlu Ünal, Aysun | |
dc.date.accessioned | 2022-05-11T14:40:12Z | |
dc.date.available | 2022-05-11T14:40:12Z | |
dc.date.issued | 2019 | |
dc.identifier.issn | 2146-3123 | |
dc.identifier.issn | 2146-3131 | |
dc.identifier.uri | https://doi.org/10.4274/balkanmedj.galenos.2018.2017.1034 | |
dc.identifier.uri | https://app.trdizin.gov.tr/makale/TXpFNE9URTVPUT09 | |
dc.identifier.uri | https://hdl.handle.net/20.500.11776/8898 | |
dc.description.abstract | Background: It is well known that axonal degeneration plays a role in disability in patients with multiple sclerosis, and synaptopathy has recently become an important issue.Aims: To investigate the possible roles of selected synaptic and presynaptic membrane protein genetic polymorphisms (VAMP2, SNAP-25, synaptotagmin, and syntaxin 1A) in patients with multiple sclerosis.Study Design: Case-control study.Methods: A total of 123 patients with multiple sclerosis and 192 healthy controls were included. The functional polymorphisms of specific SNARE complex proteins (VAMP2, synaptotagmin XI, syntaxin 1A, and SNAP-25) were analyzed by polymerase chain reaction.Results: Significant differences were detected in the genotype and allele distribution of 26-bp Ins/Del polymorphisms of VAMP2 between patients with multiple sclerosis and control subjects; Del/Del genotype and Del allele of VAMP2 were more frequent in patients with multiple sclerosis (p=0.011 and p=0.004, respectively). Similarly, Ddel polymorphism of SNAP-25 gene C/C genotype (p=0.059), syntaxin 1A T/C and C/C genotypes (p=0.005), and synaptotagmin XI gene C allele (p=0.001) were observed more frequently in patients with multiple sclerosis. CC, syntaxin rs1569061 1A gene for 33-bp promoter region TC haplotypes, and synaptotagmin XI gene were found to be associated with an increased risk for multiple sclerosis (p=0.012). Similarly, GC haplotype for rs3746544 of SNAP-25 gene and rs1051312 of SNAP-25 gene were associated with an increased risk for multiple sclerosis (p=0.022).Conclusion: Genetic polymorphisms of SNARE complex proteins, which have critical roles in synaptic structure and communication, may play a role in the development of multiple sclerosis. | en_US |
dc.language.iso | eng | en_US |
dc.identifier.doi | 10.4274/balkanmedj.galenos.2018.2017.1034 | |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Klinik Nöroloji | en_US |
dc.subject | Sağlık Bilimleri ve Hizmetleri | en_US |
dc.subject | Tıbbi İnformatik | en_US |
dc.subject | Genel ve Dahili Tıp | en_US |
dc.subject | Tıbbi Araştırmalar Deneysel | en_US |
dc.subject | Temel Sağlık Hizmetleri | en_US |
dc.subject | Cerrahi | en_US |
dc.title | Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis | en_US |
dc.type | article | en_US |
dc.relation.ispartof | Balkan Medical Journal | en_US |
dc.department | Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nöroloji Ana Bilim Dalı | en_US |
dc.identifier.volume | 36 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.startpage | 174 | en_US |
dc.identifier.endpage | 178 | en_US |
dc.institutionauthor | Ünal, Aysun | |
dc.identifier.trdizinid | TXpFNE9URTVPUT09 | en_US |