Multiple Sclerosis risk variants regulate gene expression in innate and adaptive immune cells

Study ID Alternative Stable ID Type
EGAS00001004087 Other

Study Description

Each of at least 200 single nucleotide polymorphisms (SNPs) have been confirmed to be associated with individually small increases in the risk of Multiple Sclerosis (MS). A key function that could mediate SNP encoded MS risk is their regulatory effects on gene expression or splicing. Transcriptomic profiling was performed using Affymetrix gene-expression microarrays, using RNA extracted from purified human peripheral blood monocytes, CD4 and CD8 positive lymphocyte cells, B-lymphocyte cells and Natural Killer cells from 73 untreated MS cases and 97 healthy controls. Cis expression quantitative trait locus (eQTL) mapping studies were performed in each cell type separately to characterize MS risk loci associated with gene expression change.

Study Datasets 6 datasets.

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Dataset ID Description Technology Samples
Expression measurements in NK cells
Affymetrix Human Gene_1.0ST array 140
Expression measurements in CD4 cells
Affymetrix Human Gene_1.0ST array 123
Expression measurements in moonoocytes
Affymetrix Human Gene_1.0ST array 131
Expression measurements in B cells
Affymetrix Human Gene_1.0ST array 124
Expression measurements in CD8 cells
Affymetrix Human Gene_1.0ST array 146
Illumina Immunochip genotypes
Illumina Immunochip 170

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