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


Gresle, MM and Jordan, MA and Stankovich, J and Spelman, T and Johnson, LJ and Laverick, L and Hamlett, A and Smith, LD and Jokubaitis, VG and Baker, J and Haartsen, J and Taylor, B and Charlesworth, J and Bahlo, M and Speed, TP and Brown, MA and Field, J and Baxter, AG and Butzkueven, H, Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells, Life Science Alliance, 3, (7) Article e202000650. ISSN 2575-1077 (2020) [Refereed Article]

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Copyright Statement

2020 Gresle et al. This article is available under a Creative Commons License (Attribution 4.0 International, as described at licenses/by/4.0/).

DOI: doi:10.26508/lsa.202000650


At least 200 single-nucleotide polymorphisms (SNPs) are associated with multiple sclerosis (MS) risk. A key function that could mediate SNP-encoded MS risk is their regulatory effects on gene expression. We performed microarrays using RNA extracted from purified immune cell types from 73 untreated MS cases and 97 healthy controls and then performed Cis expression quantitative trait loci mapping studies using additive linear models. We describe MS risk expression quantitative trait loci associations for 129 distinct genes. By extending these models to include an interaction term between genotype and phenotype, we identify MS risk SNPs with opposing effects on gene expression in cases compared with controls, namely, rs2256814 MYT1 in CD4 cells (q = 0.05) and rs12087340 RF00136 in monocyte cells (q = 0.04). The rs703842 SNP was also associated with a differential effect size on the expression of the METTL21B gene in CD8 cells of MS cases relative to controls (q = 0.03). Our study provides a detailed map of MS risk loci that function by regulating gene expression in cell types relevant to MS.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Central nervous system
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Taylor, B (Professor Bruce Taylor)
UTAS Author:Charlesworth, J (Dr Jac Charlesworth)
ID Code:139915
Year Published:2020
Web of Science® Times Cited:12
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-07-15
Last Modified:2022-08-23
Downloads:19 View Download Statistics

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