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 ]]> Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data https://nova.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://nova.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://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13696 Wed 11 Apr 2018 12:04:40 AEST ]]> Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 https://nova.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://nova.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 ]]> 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 ]]> Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36658 exp] in the gene encoding Replication Factor C1 (RFC1). This motif, not reported in the reference sequence, localized to an Alu element and replaced the reference (AAAAG)11 short tandem repeat. Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. WGS of the four RFC1-negative CANVAS-affected families identified plausible variants in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45. This study identified the genetic basis of CANVAS and demonstrated that these improved bioinformatics tools increase the diagnostic utility of WGS to determine the genetic basis of a heterogeneous group of clinically overlapping neurogenetic disorders.]]> Mon 22 Jun 2020 15:22:42 AEST ]]>