Kalra, S (2019) A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis. Nature Communications, 10 (1). 2236 - ?.

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Abstract

Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has proven extremely difficult. Even determining which cell types and which particular gene(s) are relevant continues to be a challenge. Here, we conduct a cell-specific pathway analysis of the latest GWAS in multiple sclerosis (MS), which had analyzed a total of 47,351 cases and 68,284 healthy controls and found more than 200 non-MHC genome-wide associations. Our analysis identifies pan immune cell as well as cell-specific susceptibility genes in T cells, B cells and monocytes. Finally, genotype-level data from 2,370 patients and 412 controls is used to compute intra-individual and cell-specific susceptibility pathways that offer a biological interpretation of the individual genetic risk to MS. This approach could be adopted in any other complex trait for which genome-wide data is available.

Item Type: Article
Additional Information: This is the final published version of the article (version of record). It first appeared online via Nature Research at http://doi.org/10.1038/s41467-019-09773-y - please refer to any applicable terms of use of the publisher.
Subjects: R Medicine > RC Internal medicine > RC346 Neurology. Diseases of the nervous system, including speech disorders
Divisions: Faculty of Medicine and Health Sciences > Institute for Science and Technology in Medicine
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Depositing User: Symplectic
Date Deposited: 12 Jun 2019 10:08
Last Modified: 12 Jun 2019 10:10
URI: http://eprints.keele.ac.uk/id/eprint/6476

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