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Prevalent Function of Genome Loci Associated with Development of Multiple Sclerosis as Revealed by GWAS and eQTL Analysis
Russian Acad Sci, Vavilov Inst Gen Genet, Moscow 119991, Russia..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Russian Acad Sci, Vavilov Inst Gen Genet, Moscow 119991, Russia..
Russian Acad Sci, Vavilov Inst Gen Genet, Moscow 119991, Russia..
2017 (English)In: Russian journal of genetics, ISSN 1022-7954, E-ISSN 1608-3369, Vol. 53, no 9, p. 982-987Article in journal (Refereed) Published
Abstract [en]

We studied genome distribution of single-nucleotide polymorphisms (SNP) associated with development of multiple sclerosis and identified genome segments enriched in such polymorphisms. Some SNPs observed in identified segments are also local or distal eQTLs (expression quantitative trait loci) for a number of genes expressed in the blood or the nervous system. We analyzed lists of genes expression of which depends on these eQTLs, separately for the blood and the nervous system, and identified GO functions overrepresented in such gene lists. An antigen processing and presentation via MHC class II appeared to be the main gene functions either in the blood or in the nervous system. We identified a set of SNPs genetically linked with at least three SNPs associated with multiple sclerosis in GWAS, which includes eQTLs for all overrepresented functions. These SNPs and genes are located in a rather short locus on chromosome 14 presumably containing IGHG genes. SNPs from this genome segment affect expression of the HLA-DOB, HLA-DQA1, HLA-DQA2, and HLA-DQB1 genes both in the blood and in the nervous system. The results we obtained made it possible to suggest the mechanisms of multiple sclerosis development.

Place, publisher, year, edition, pages
Maik Nauka/Interperiodica, 2017. Vol. 53, no 9, p. 982-987
Keywords [en]
multiple sclerosis, GWAS, eQTL, prevalent functions
National Category
Genetics
Identifiers
URN: urn:nbn:se:uu:diva-336498DOI: 10.1134/S1022795417090058ISI: 000411516900004OAI: oai:DiVA.org:uu-336498DiVA, id: diva2:1166155
Available from: 2017-12-14 Created: 2017-12-14 Last updated: 2017-12-14Bibliographically approved

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Oparina, Nina Yu.

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