Yalın, Osman ÖzgürGökdoğan Edgünlü, TubaKarakaş Çelik, SevimEmre, UfukGüneş, TaşkınErdal, YükselEroğlu Ünal, Aysun2022-05-112022-05-1120192146-31232146-3131https://doi.org/10.4274/balkanmedj.galenos.2018.2017.1034https://app.trdizin.gov.tr/makale/TXpFNE9URTVPUT09https://hdl.handle.net/20.500.11776/8898Background: 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.en10.4274/balkanmedj.galenos.2018.2017.1034info:eu-repo/semantics/openAccessKlinik NörolojiSağlık Bilimleri ve HizmetleriTıbbi İnformatikGenel ve Dahili TıpTıbbi Araştırmalar DeneyselTemel Sağlık HizmetleriCerrahiArticle3631741782-s2.0-8506582148630582321Q3