Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/8626
Title: Single nucleotide variants around the connective tissue growth factor (CTGF/CCN2) gene and their association with multiple sclerosis risk, disability scores, and rate of disease progression
Authors: Can Demirdöğen, Birsen
Kilic, Osman Oguzhan
Karagulle, Elif Naz
Kalmaz, Latife Mekselina
Mungan, Semra
Keywords: EDSS
MSSS
Neurodegeneration
Oligodendrocyte
Progression
Prognosis
Expression
Polymorphisms
Myelination
Diagnosis
Issue Date: 2022
Publisher: Springer-Verlag Italia Srl
Source: Can Demirdöğen, B., Kılıç, O. O., Karagülle, E. N., Kalmaz, L. M., & Mungan, S. (2022). Single nucleotide variants around the connective tissue growth factor (CTGF/CCN2) gene and their association with multiple sclerosis risk, disability scores, and rate of disease progression. Neurological Sciences, 43(6), 3867-3877.
Abstract: Background This study aimed to explore the possible association of single nucleotide polymorphisms (SNPs) in the upstream (rs9402373) and downstream regions (rs9399005 and rs12526196) of the gene encoding connective tissue growth factor (CTGF/CCN2) with relapsing-remitting multiple sclerosis (RRMS) risk and clinical parameters including disability scores and rate of disability progression. Materials and methods In total, 200 patients with RRMS and 305 controls were genotyped using real-time PCR (rs1252696 C/T and rs9402373 G/C) or PCR-RFLP (rs9399005 C/T) methods. Furthermore, the association between these genotypes and clinical parameters including Expanded Disability Status Scale (EDSS) score, Multiple Sclerosis Severity Score (MSSS), age at onset, duration of disease, duration of treatment, and presence of contrast-enhancing lesions was analyzed. Results rs9399005 genotypes TT and CT in the dominant model were significant predictors of RRMS vs. control status by logistic regression analysis (OR = 1.45, 95% CI = 1.01-2.08, P = .04). Moreover, these genotypes for rs9399005 were associated with a MSSS >= 2.4 (OR = 3.54, 95% CI = 1.56-8.05, P = .003). In addition, MSSS was lower in patients who had at least one rs12526196C allele than in the corresponding patients with the TT genotype (P = .02). Conclusion To our knowledge, this is the first evidence of the involvement of variants around the CTGF gene in MS risk and disability progression.
URI: https://doi.org/10.1007/s10072-021-05852-5
https://hdl.handle.net/20.500.11851/8626
ISSN: 1590-1874
1590-3478
Appears in Collections:Biyomedikal Mühendisliği Bölümü / Department of Biomedical Engineering
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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