TY  - JOUR
TI  - Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis
AB  - Objective: Although Aquaporin-4 (Aqp-4) gene polymorphisms have been extensively studied in neuromyelitis optica spectrum disorder (NMOSD), there islittle evidence on the involvement of Aqp-4 in the pathogenesis of relapsing optic neuritis (RON).Materials and Methods: In our study, we recruited patients who were followed by Istanbul University, Istanbul Faculty of Medicine, Department of Neurology,Multiple Sclerosis and Myelin Disorders Unit between 1979 and 2015. Blood samples of the patients were genotyped for potential variants in the exons and thenearby regions of Aqp-4 gene.Results: The Aqp-4 gene was sequenced in 15 patients with RON who were seronegative, 33 patients with NMOSD, and 30 healthy controls. None of thepatients showed previously described single nucleotide polymorphisms (SNPs). Three new SNPs were identified in non-exonic regions of the gene. One intronicSNP located in close proximity to the fifth exon had a higher prevalence in patients with RON than patients with NMOSD and healthy controls.Conclusion: Aqp-4 SNPs show a considerable heterogeneous geographic distribution and might be involved in RON pathogenesis.
AU  - Kürtüncü, Murat
AU  - Cakar, Arman
AU  - Tuzun, Erdem
AU  - Bireller, Sinem
AU  - Ulusoy, Canan
AU  - Kucukali, Cem Ismail
DO  - 10.4274/tnd.2020.56492
PY  - 2020
JO  - Türk Nöroloji Dergisi
VL  - 26
IS  - 2
SN  - 1301-062X
SP  - 122
EP  - 125
DB  - TRDizin
UR  - http://search/yayin/detay/387068
ER  -