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American Association for the Advancement of Science, Science, 6460(365), 2019

DOI: 10.1126/science.aav7188

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Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.

Journal article published in 2019 by Nikolas A. Patsopoulos, Adams Santaniello, Parisa Shoostari, Chris Cotsapas, Garrett Wong, Helle Bach Sondergaard, Tojo James, Joseph Replogle, Lise Wegner Thorner, Ioannis S. Vlachos, Cristin McCabe, Tune H. Pers, Mark Muehlau, Charles White, Brendan Keenan and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the International Multiple Sclerosis Genetics Consortium identified more than 200 risk loci in MS (see the Perspective by Briggs). Focusing on the best candidate genes, including a model of the major histocompatibility complex region, the authors identified statistically independent effects at the genome level. Gene expression studies detected that every major immune cell type is enriched for MS susceptibility genes and that MS risk variants are enriched in brain-resident immune cells, especially microglia. Up to 48% of the genetic contribution of MS can be explained through this analysis. Science , this issue p. eaav7188 ; see also p. 1383