2 research outputs found
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis
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 intraindividual 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
Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (Nature Communications, (2019), 10, 1, (2236), 10.1038/s41467-019-09773-y)
The original version of this Article contained an error in the spelling of the author Nikolaos A. Patsopoulos, which was incorrectly given as Niklaos A. Patsopoulos, and author Efthimios Dardiotis, which was incorrectly given as Dardiotis Efthimios. This has now been corrected in both the PDF and HTML versions of the Article