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 ]]> 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 ]]> Common and low frequency variants in MERTK are independently associated with multiple sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30273 MERTK has been established as an MS susceptibility gene and is part of a family of receptor tyrosine kinases known to be involved in the pathogenesis of demyelinating disease. In this study we have refined the association of MERTK with MS risk to independent signals from both common and low frequency variants. One of the associated variants was also found to be linked with increased expression of MERTK in monocytes and higher expression of MERTK was associated with either increased or decreased risk of developing MS, dependent upon HLA-DRB1*15:01 status. This discordant association potentially extended beyond MS susceptibility to alterations in disease course in established MS. This study provides clear evidence that distinct polymorphisms within MERTK are associated with MS susceptibility, one of which has the potential to alter MERTK transcription, which in turn can alter both susceptibility and disease course in MS patients.]]> Wed 11 Apr 2018 13:23:58 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 ]]> 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 ]]>