Article
A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome.
Human molecular genetics - 15 Dec 2015
Didonna Alessandro, Isobe Noriko, Caillier Stacy J, Li Kathy H, Burlingame Alma L, Hauser Stephen L, Baranzini Sergio E, Patsopoulos Nikolaos A, Oksenberg Jorge R
Abstract excerpt
Despite recent progress in the characterization of genetic loci associated with multiple sclerosis (MS) risk, the ubiquitous linkage disequilibrium operating across the genome has stalled efforts to distinguish causative variants from proxy single-nucleotide polymorphisms (SNPs). Here, we have identified through fine mapping and meta-analysis EVI5 as the most plausible disease risk gene within the 1p22.1 locus....
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