https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 NLRP3 polymorphisms and response to interferon-beta in multiple sclerosis patients https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43306 Thu 15 Sep 2022 13:54:25 AEST ]]> Genetic variants are major determinants of CSF antibody levels in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27383 -16). Furthermore, we identify a novel association signal of rs9807334, near the ELAC1/SMAD4 genes, for oligoclonal band status (P = 8.45 x 10-7). The previously reported association of the immunoglobulin heavy chain locus with immunoglobulin G index reaches strong evidence for association in this data set (P = 3.79 x 10-37). We identify two novel associations in the major histocompatibility complex region with immunoglobulin G index: the rs9271640*A-rs6457617*G haplotype (P = 1.59 x 10-22), shared with oligoclonal band status, and an additional independent effect of rs6457617*G (P = 3.68 x 10-6). Variants identified in this study account for up to 2-fold differences in the odds of being oligoclonal band positive and 7.75% of the variation in immunoglobulin G index. Both traits are associated with clinical features of disease such as female gender, age at onset and severity. This is the largest study population so far investigated for the genetic influence on antibody levels in the cerebrospinal fluid in multiple sclerosis, including 6950 patients. We confirm that genetic factors underlie these antibody levels and identify both the major histocompatibility complex and immunoglobulin heavy chain region as major determinants.]]> Sat 24 Mar 2018 07:34:11 AEDT ]]> A pharmacogenetic study implicates NINJ2 in the response to Interferon-ß in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38338 -4, hazard ratio = 1.41). Moreover, rs7298096AA is associated with a higher NINJ2 expression in blood (p = 7.0 x 10-6), which was confirmed in vitro (p = 0.009). Finally, NINJ2 expression is downregulated by IFNβ treatment and related to TTFR. Conclusions: Rs7298096 could influence MS disease activity during IFNβ treatment by modulating NINJ2 expression in blood. The gene encodes for an adhesion molecule involved in inflammation and endothelial cells activation, supporting its role in MS.]]> Mon 30 Aug 2021 13:46:38 AEST ]]>