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Epistatic effects on the phenotype of multiple sclerosis.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Katharine Harding, Samantha Loveless, Mark Wardle, Valentina Tomassini, Trevor Pickersgill, Neil Robertson
Cardiff University; University Hospital of Wales.
MS is an autoimmune disease of complex aetiology characterised by variable age related pathology including an early inflammatory process reflected by clinical relapses and later neurodegeneration associated with slow accumulation of fixed disability. However, the relationship between these stages remains poorly understood. Recent advances in genetic analysis have improved our understanding of the pathophysiological processes but an understanding of the contribution of genetic factors to disease phenotype remain elusive, and although family studies have demonstrated convincing evidence of a genetic influence on disease phenotype, no such effect has been demonstrated in superficial analysis of disease associate SNPs in large GWAS. This suggests that any effects on disease expression are likely to be complex and multigenic. In this study we have examined the effect of interactions between genes on phenotypic aspects of MS.
PMID: 24109011 [PubMed - as supplied by publisher]