https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13674 Wed 24 Jun 2020 12:51:30 AEST ]]> Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13672 Wed 11 Apr 2018 16:23:10 AEST ]]> Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13673 Wed 11 Apr 2018 15:24:43 AEST ]]> Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24220 A and −174 G>C) correlate with MS susceptibility, but with varying results. In the present study, we analyzed these polymorphisms, together with an additional polymorphism (−572 G>C) in 279 healthy controls and 509 patients with MS. We found no significant differences between MS patients and healthy controls for the different −597 or −174 IL6 promoter alleles or genotypes. There was a slight reduction in the percentage of individuals with MS who carried a C allele at position −572, although this was not significant after correction for multiple comparisons. Interestingly, however, the −572 C allele showed a significant correlation with the MS severity score, suggesting a possible role in disease progression.]]> Wed 11 Apr 2018 15:18:27 AEST ]]> The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: implications for gene function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:26643 Wed 11 Apr 2018 13:39:49 AEST ]]> Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13696 Wed 11 Apr 2018 12:04:40 AEST ]]> Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:18970 Sat 24 Mar 2018 07:58:53 AEDT ]]> The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19680 Sat 24 Mar 2018 07:53:39 AEDT ]]> Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25354 Sat 24 Mar 2018 07:24:42 AEDT ]]> A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24704 85% loss of 'pore' function of the P2X7 receptor measured by ATP-induced ethidium uptake. Analysis shows Arg307Gln always occurred with 270His suggesting a single 307Gln-270His haplotype which confers dominant negative effects on P2X7 function and protection against MS. Modelling based on the homologous zP2X4 receptor showed Arg307 is located in a region rich in basic residues located only 12Å from the ligand binding site. Our data show the protective effect against MS of a rare genetic variant of P2RX7 with heterozygotes showing near absent proinflammatory 'pore' function.]]> Sat 24 Mar 2018 07:10:52 AEDT ]]>