Article
The MS Risk Allele of CD40 Is Associated with Reduced Cell-Membrane Bound Expression in Antigen Presenting Cells: Implications for Gene Function.
PloS one - 1 Jan 2015
Field Judith, Shahijanian Fernando, Schibeci Stephen, Johnson Laura, Gresle Melissa, Laverick Louise, Parnell Grant, Stewart Graeme, McKay Fiona, Kilpatrick Trevor, Butzkueven Helmut, Booth David
Abstract excerpt
Human genetic and animal studies have implicated the costimulatory molecule CD40 in the development of multiple sclerosis (MS). We investigated the cell specific gene and protein expression variation controlled by the CD40 genetic variant(s) associated with MS, i.e. the T-allele at rs1883832. Previously we had shown that the risk allele is expressed at a lower level in whole blood, especially in people with MS....
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