Prevalent function of genome loci associated with development of multiple sclerosis as revealed by GWAS and eQTL analysis
- 作者: Bykadorov P.1, Oparina N.2, Fridman M.1, Makeev V.1
-
隶属关系:
- Vavilov Institute of General Genetics
- Department of Medical Biochemistry and Microbiology
- 期: 卷 53, 编号 9 (2017)
- 页面: 982-987
- 栏目: General Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188424
- DOI: https://doi.org/10.1134/S1022795417090058
- ID: 188424
如何引用文章
详细
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.
作者简介
P. Bykadorov
Vavilov Institute of General Genetics
Email: marina-free@mail.ru
俄罗斯联邦, Moscow, 119991
N. Oparina
Department of Medical Biochemistry and Microbiology
Email: marina-free@mail.ru
瑞典, Uppsala, 752 36
M. Fridman
Vavilov Institute of General Genetics
编辑信件的主要联系方式.
Email: marina-free@mail.ru
俄罗斯联邦, Moscow, 119991
V. Makeev
Vavilov Institute of General Genetics
Email: marina-free@mail.ru
俄罗斯联邦, Moscow, 119991