https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis https://ogma.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://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13672 Wed 11 Apr 2018 16:23:10 AEST ]]> Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13671 Wed 11 Apr 2018 16:06:02 AEST ]]> Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13673 Wed 11 Apr 2018 15:24:43 AEST ]]> Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13696 Wed 11 Apr 2018 12:04:40 AEST ]]> Investigating a cluster of vulvar cancer in young women: a cross-sectional study of genital human papillomavirus prevalence https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25542 Wed 11 Apr 2018 11:47:09 AEST ]]> Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22235 −6). Network analysis of cases and controls sharing haplotypes on chromosome 19 further strengthened the association as there are more large networks of cases sharing haplotypes than controls. This linkage region includes a cluster of zinc finger genes of unknown function. Analysis of genome wide transcriptome data suggests that genes in this zinc finger cluster may be involved in very early developmental regulation of the CNS. Our study also indicates that BEAGLE fastIBD allowed identification of rare variants in large unrelated population with moderate computational intensity. Even with the development of whole-genome sequencing, IBD mapping still may be a promising way to narrow down the region of interest for sequencing priority.]]> Wed 11 Apr 2018 11:41:58 AEST ]]> The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9594 Sat 24 Mar 2018 08:39:37 AEDT ]]> Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7518 Sat 24 Mar 2018 08:38:28 AEDT ]]> Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:12845 T at 3p24.1 (odds ratio [OR], 1.17; p = 1.6 × 10−8) near EOMES, rs2150702G in the second intron of MLANA on chromosome 9p24.1 (OR, 1.16; p = 3.3 × 10−8), and rs6718520A in an intergenic region on chromosome 2p21, with THADA as the nearest flanking gene (OR, 1.17; p = 3.4 × 10−8). The 3 new loci do not have a strong cis effect on RNA expression in PBMCs. Ten other susceptibility loci had a suggestive p < 1 × 10−6, some of these loci have evidence of association in other inflammatory diseases (ie, IL12B, TAGAP, PLEK, and ZMIZ1). Interpretation: We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene discovery efforts and highlights 3 novel MS susceptibility loci. These and additional loci with suggestive evidence of association are excellent candidates for further investigations to refine and validate their role in the genetic architecture of MS.]]> Sat 24 Mar 2018 08:17:22 AEDT ]]> Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18970 Sat 24 Mar 2018 07:58:53 AEDT ]]> Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects https://ogma.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://ogma.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 ]]>