dc.creator | Ntellas P., Dardiotis E., Sevdali E., Siokas V., Aloizou A.-M., Tsinti G., Germenis A.E., Hadjigeorgiou G.M., Eibel H., Speletas M. | en |
dc.date.accessioned | 2023-01-31T09:40:51Z | |
dc.date.available | 2023-01-31T09:40:51Z | |
dc.date.issued | 2020 | |
dc.identifier | 10.1016/j.msard.2019.101422 | |
dc.identifier.issn | 22110348 | |
dc.identifier.uri | http://hdl.handle.net/11615/77340 | |
dc.description.abstract | Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently been analyzed in MS patients. BAFF mediates its function through binding to three receptors; among them, its interaction with the BAFF receptor (BAFFR) is crucial in mediating its survival function. Interestingly, two common polymorphisms of the TNFRSF13C gene, encoding BAFFR, P21R (rs77874543) and H159Y (rs61756766), have been reported to affect BAFFR assembly and signaling. In order to evaluate the possible contribution of BAFFR in MS pathogenesis and/or phenotype, we analyzed both TNFRSF13C/BAFFR polymorphisms in 486 MS patients in relation to their disease severity, their disability status and the age of disease onset and duration. As control group, we used allele frequencies extracted from the Exome Aggregation Consortium (ExAC) Browser. Interestingly, we found a higher prevalence of the H159Y polymorphism in MS patients, suggesting that enhanced BAFFR-signaling might contribute to the disease pathogenesis. © 2019 Elsevier B.V. | en |
dc.language.iso | en | en |
dc.source | Multiple Sclerosis and Related Disorders | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85073934023&doi=10.1016%2fj.msard.2019.101422&partnerID=40&md5=5e5edf7b7d7cd0e6d0d5f5033304629b | |
dc.subject | adult | en |
dc.subject | aged | en |
dc.subject | Article | en |
dc.subject | BAFFR P21R gene | en |
dc.subject | cohort analysis | en |
dc.subject | controlled study | en |
dc.subject | disability | en |
dc.subject | disease duration | en |
dc.subject | disease severity | en |
dc.subject | female | en |
dc.subject | gene | en |
dc.subject | gene frequency | en |
dc.subject | genetic polymorphism | en |
dc.subject | H159Y gene | en |
dc.subject | human | en |
dc.subject | major clinical study | en |
dc.subject | male | en |
dc.subject | multiple sclerosis | en |
dc.subject | onset age | en |
dc.subject | P21R gene | en |
dc.subject | pathogenesis | en |
dc.subject | phenotype | en |
dc.subject | prevalence | en |
dc.subject | signal transduction | en |
dc.subject | TNFRSF13C gene | en |
dc.subject | B lymphocyte | en |
dc.subject | genetic polymorphism | en |
dc.subject | genetics | en |
dc.subject | immunology | en |
dc.subject | metabolism | en |
dc.subject | multiple sclerosis | en |
dc.subject | B cell activating factor | en |
dc.subject | B cell activating factor receptor | en |
dc.subject | TNFRSF13C protein, human | en |
dc.subject | TNFSF13B protein, human | en |
dc.subject | Adult | en |
dc.subject | Age of Onset | en |
dc.subject | B-Cell Activating Factor | en |
dc.subject | B-Cell Activation Factor Receptor | en |
dc.subject | B-Lymphocytes | en |
dc.subject | Female | en |
dc.subject | Humans | en |
dc.subject | Male | en |
dc.subject | Multiple Sclerosis | en |
dc.subject | Polymorphism, Genetic | en |
dc.subject | Signal Transduction | en |
dc.subject | Elsevier B.V. | en |
dc.title | TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis | en |
dc.type | journalArticle | en |